Glioma Biomarkers
Representative Biomarkers Full List of Biomarkers Tested Data-Supported Products
Glioma represents the most prevalent form of central nervous system (CNS) neoplasms, originating from glial cells. Characterized by their diffusive infiltration into surrounding brain tissue, gliomas pose a significant challenge in diagnosis and treatment. The United States records approximately six glioma cases per 100,000 individuals annually. These tumors range from the highly malignant glioblastoma to the less aggressive pilocytic astrocytomas. Recent advancements have shifted the classification of gliomas from purely histopathological criteria to include molecular and genetic markers, offering better prognostic and therapeutic insights. This classification spans from grade I to IV, based on factors such as the mitotic index and the presence or absence of necrosis, further refining treatment approaches and patient management strategies. The complexity of glioma, coupled with its varying degrees of malignancy, underscores the necessity for a nuanced understanding of its pathophysiology, enabling more effective interprofessional efforts in managing this challenging CNS pathology.
Figure 1 Schematic showing how the disease entities from WHO 2016 is now defined in WHO 2021. (Benjamin, 2022)
Representative Biomarkers of Glioma
EGFR
The Epidermal Growth Factor Receptor (EGFR) plays a pivotal role in cellular proliferation and survival, making it a key target in cancer research, particularly in gliomas, the most aggressive form of brain tumors. EGFR gene amplification and overexpression are especially prominent in glioblastoma multiforme (GBM), observed in about 40% of cases. Notably, around 50% of GBM cases with EGFR amplification also exhibit a specific mutant form of EGFR, known as EGFRvIII. This mutant is characterized by a deletion that results in constitutive signaling independent of ligand binding, contributing significantly to tumor growth and resistance to therapy. The presence of EGFRvIII is associated with a more aggressive tumor phenotype and has been linked to poor prognosis, underscoring its importance in glioma pathogenesis and as a potential therapeutic target.
Recommended Human Anti-EGFR mAb (Nimotuzumab) (CAT#: TAB-710)
Figure 2 ELISA analysis of TAB-710 was performed by coating with human EGFR protein (His Tag). The secondary antibody: HRP-anti-human IgG.
Recommended Rabbit Anti-EGFR mAb (CAT#: ZG-0644J)
Figure 3 Overlay histogram showing Jurkat cells stained with this product (red line) at 1:50. The cells were fixed with 70% Ethylalcohol (18h) and then incubated in 10% normal goat serum to block non-specific protein-protein interactions followedby the antibody (1µg/1*106cells) for 1 h at 4°C. The secondary antibody used was FITC-conjugated goat anti-rabbit IgG (H+L) at 1/200 dilution for 30min at 4°C. Control antibody (green line) was Rabbit IgG (1µg/1*106cells) used under the same conditions. Acquisition of>10,000 events was performed.
Recommended Human Anti-EGFR mAb (CAT#: TAB-014MZ-VHH)
Figure 4 The purity of TAB-014MZ-VHH was greater than 95% as determined by HPLC.
CDKN2A
CDKN2A, also known as cyclin-dependent kinase inhibitor 2A, plays a crucial role in the regulation of the cell cycle, acting as a tumor suppressor gene by inhibiting the activity of CDK4 and CDK6, thus preventing the phosphorylation of the retinoblastoma protein and halting cell cycle progression at the G1 phase. This gene is of particular interest in the context of glioma, a type of brain tumor that originates from glial cells. Mutations, deletions, or epigenetic silencing of CDKN2A are frequently observed in various subtypes of glioma, leading to uncontrolled cell proliferation and tumor development. The loss of CDKN2A function is associated with poor prognosis and aggressive tumor behavior, underscoring its significance in glioma pathogenesis. Its role extends beyond cell cycle regulation, as it also influences apoptosis, senescence, and DNA repair mechanisms, impacting tumor response to therapy. Understanding the biology of CDKN2A in glioma not only sheds light on the molecular mechanisms underpinning tumorigenesis but also opens avenues for targeted therapeutic strategies aimed at restoring its tumor suppressive functions or counteracting the effects of its loss.
Recommended Mouse Anti-CDKN2A mAb (CAT#: ZG-0334C)
Figure 5 Immunohistochemistry analysis of paraffin-embedded rat liver tissue (A), human brain tumor (B), breast cancer (C), esophageal epithelium tissue (D), mouse brain tissue (E) and stomach tisue (F), showing nuclear localization with DAB staining using p16 monoclonal antibody.
Recommended Rabbit Anti-CDKN2A mAb (CAT#: ZG-0376U)
Figure 6 Adenocarcinoma in situ of the uterine cervix, stained with anti-p16 monoclonal antibody. The result shows strong and specific positive immunostaining of dysplastic and neoplastic epithelium, with no reactivity in normal epithelial and stromal structures. Formalin fixed, paraffin embedded human tissues (4 μm sections) stained.
Recommended Mouse Anti-CDKN2A mAb (CAT#: ZG-0795F)
Figure 7 Immunohistochemical staining of formalin fixed, paraffin embedded tissue from an HPV infected preneoplastic lesion in the uterine cervix using p16-INK4a antibody. Antigen retreival was performed with Tris/EDTA buffer pH 9.
BRAF
BRAF is a serine/threonine kinase involved in the MAPK/ERK signaling pathway, which plays a critical role in cell division, differentiation, and secretion. As a part of the RAS/RAF/MEK/ERK pathway, BRAF mutations often lead to excessive cell proliferation and survival, contributing to the development of various cancers, including gliomas. Gliomas, a category of brain tumors that arise from glial cells, have been found to sometimes harbor mutations in the BRAF gene, particularly the V600E mutation, which leads to a constitutively active form of the B-Raf protein. This mutation promotes uncontrolled cell growth and tumor development in the brain. The presence of BRAF mutations in gliomas has significant implications for prognosis and treatment strategies, as targeted therapies that inhibit the activity of the mutated BRAF protein have shown promise in improving outcomes for patients with these mutations.
Recommended Mouse Anti-BRAF mAb (CAT#: ZG-054R)
Figure 8 Immunohistochemistry analysis of paraffin-embedded human testis tissues with AEC staining using Raf-B monoclonal antibody.
Recommended Rabbit Anti-BRAF mAb (CAT#: ZG-0571J)
Figure 9 Immunofluorescence staining of HepG2 cells with ZG-0571J at 1:100,counter-stained with DAPI. The cells were fixed in 4% formaldehyde, permeabilized using 0.2% Triton X-100 and blocked in 10% normal Goat Serum. The cells were then incubated with the antibody overnight at 4°C. The secondary antibody was Alexa Fluor 488-congugated Goat Anti-Rabbit IgG (H+L).
Recommended Rabbit Anti-BRAF mAb (CAT#: ZG-0299U)
Figure 10 Formalin fixed, paraffin embedded human tissues (4 μm sections) stained with Anti - B-raf antibody. Nuclear B-raf expression in the epithelium and stromal cells in normal bowel mucosa tissue.
Full List of Glioma Biomarkers
| Biomarker | Alternative Names | Gene ID | UniProt ID | Roles |
| AEBP1 | AE Binding Protein 1; Aortic Carboxypeptidase-Like Protein 2; AE-Binding Protein 1; ACLP; Adipocyte Enhancer Binding Protein 1 | 165 | Q8IUX7 | This gene encodes a member of carboxypeptidase A protein family. The encoded protein may function as a transcriptional repressor and play a role in adipogenesis and smooth muscle cell differentiation. Studies in mice suggest that this gene functions in wound healing and abdominal wall development. Overexpression of this gene is associated with glioblastoma. |
| APRIL | APRIL; tumor necrosis factor ligand superfamily member 13-like; a proliferation-inducing ligand | 103112612 | APRIL is a cytokine that belongs to the TNF superfamily and binds to TACI and BCMA. It is implicated in the regulation of tumor cell growth and is involved in monocyte/macrophage-mediated immunological processes. Anti-APRIL (mouse) Monoclonal Antibody (recombinant) (Blocking) (APRY-1-1) is an antibody developed by antibody phage display technology using a human naive antibody gene library. These libraries consist of scFv (single chain fragment variable) composed of VH (variable domain of the human immunoglobulin heavy chain) and VL (variable domain of the human immunoglobulin light chain) connected by a polypeptide linker. The antibody fragments are displayed on the surface of filamentous bacteriophage (M13). This scFv was selected by affinity selection on antigen in a process termed panning. Multiple rounds of panning are performed to enrich for antigen-specific scFv-phage. Monoclonal antibodies are subsequently identified by screening after each round of selection. The selected monoclonal scFv is cloned into an appropriate vector containing a Fc portion of interest and then produced in mammalian cells to generate an IgG like scFv-Fc fusion protein. | |
| ASCL1 | ASCL1; achaete-scute family bHLH transcription factor 1; ASH1; HASH1; MASH1; bHLHa46; achaete-scute homolog 1; ASH-1; achaete scute protein; achaete-scute complex-like 1; achaete-scute complex homolog 1; class A basic helix-loop-helix protein 46; | 429 | P50553 | This gene encodes a member of the basic helix-loop-helix (BHLH) family of transcription factors. The protein activates transcription by binding to the E box (5-CANNTG-3). Dimerization with other BHLH proteins is required for efficient DNA binding. This protein plays a role in the neuronal commitment and differentiation and in the generation of olfactory and autonomic neurons. Mutations in this gene may contribute to the congenital central hypoventilation syndrome (CCHS) phenotype in rare cases. [provided by RefSeq, Jul 2008] |
| B2M | Beta-2-Microglobulin; Beta Chain Of MHC Class I Molecules; Beta-2-Microglobin; IMD43 | 567 | P61769 | This gene encodes a serum protein found in association with the major histocompatibility complex (MHC) class I heavy chain on the surface of nearly all nucleated cells. The protein has a predominantly beta-pleated sheet structure that can form amyloid fibrils in some pathological conditions. The encoded antimicrobial protein displays antibacterial activity in amniotic fluid. A mutation in this gene has been shown to result in hypercatabolic hypoproteinemia.B2M (Beta-2-Microglobulin) is a Protein Coding gene. Diseases associated with B2M include Immunodeficiency 43 and Amyloidosis, Familial Visceral. Among its related pathways are Cytokine Signaling in Immune system and Innate Immune System. Gene Ontology (GO) annotations related to this gene include identical protein binding.Component of the class I major histocompatibility complex (MHC). Involved in the presentation of peptide antigens to the immune system. Exogenously applied M.tuberculosis EsxA or EsxA-EsxB (or EsxA expressed in host) binds B2M and decreases its export to the cell surface (total protein levels do not change), probably leading to defects in class I antigen presentation (PubMed:25356553). |
| BRAF | B-Raf Proto-Oncogene, Serine/Threonine Kinase; V-Raf Murine Sarcoma Viral Oncogene Homolog B1; V-Raf Murine Sarcoma Viral Oncogene Homolog B; Proto-Oncogene B-Raf; BRAF1; RAFB1; B-Raf Proto-Oncogene Serine/Threonine-Protein Kinase (P94); Murine Sarcoma Viral (V-Raf) Oncogene Homolog B1; Serine/Threonine-Protein Kinase B-Raf | 673 | P15056 | This gene encodes a protein belonging to the RAF family of serine/threonine protein kinases. This protein plays a role in regulating the MAP kinase/ERK signaling pathway, which affects cell division, differentiation, and secretion. Mutations in this gene, most commonly the V600E mutation, are the most frequently identified cancer-causing mutations in melanoma, and have been identified in various other cancers as well, including non-Hodgkin lymphoma, colorectal cancer, thyroid carcinoma, non-small cell lung carcinoma, hairy cell leukemia and adenocarcinoma of lung. Mutations in this gene are also associated with cardiofaciocutaneous, Noonan, and Costello syndromes, which exhibit overlapping phenotypes. A pseudogene of this gene has been identified on the X chromosome. |
| CALD1 | Caldesmon 1; CDM; Testis Secretory Sperm-Binding Protein Li 227n; Caldesmon; H-CAD; L-CAD | 800 | Q05682 | CALD1 (Caldesmon 1) is a Protein Coding gene. Diseases associated with CALD1 include Mixed Endometrial Stromal And Smooth Muscle Tumor and Kidney Leiomyosarcoma. Among its related pathways are Cardiac conduction and Smooth Muscle Contraction. Gene Ontology (GO) annotations related to this gene include actin binding and myosin binding. |
| CD25 | CD25; Il2r; Ly-43 | 16184 | P01590 | CD25 (alpha-chain of IL-2 receptor, or IL2RA), is a type I transmembrane glycoprotein with a signal peptide, an extracellular region, a transmembrane region, and a cytoplasmic domain. IL2RA is expressed on activated T cells and regulatory T cells, and is capable of binding IL2 with low affinity by itself. However, a ligand-induced high affinity heterotrimeric receptor complex is produced when IL2RA is associated non-covelently with the IL2 receptor beta and gamma chain, and subsequently initiates the intacellular signal pathways such as MAPK or JAK/STAT. On dendritic cells (DC), CD25 has been previously regarded as an activation marker, while both murine and human DC can express CD25, they do not express the beta-chain of the IL-2 receptor, which is indispensable for the execution of IL-2 signaling. The IL2RA (CD25) gene is a substantial component of the high-affinity receptor molecule highly expressed by activated T lymphocytes. Recently, a strong evidence was obtained for the involvement of IL-2RA in conferring susceptibility to type 1 diabetes (T1D). Cancer growth and development is associated with the stimulation of the innate immune system, including enhanced interleukin 2 receptor (IL-2R) expression in immune cells and its shedding into the circulation in a soluble form of sIL-2Ralpha. In most haematological malignancies, including different types of leukaemias and lymphomas, sIL-2Ralpha has been found to be released directly from the surface of neoplastic cells thus reflecting the tumour bulk, turnover and activity. Several studies have proved that not only lymphoid cancer cells, but also some non-lymphoid cancer cells, express IL-2R on their surface. They include malignant melanoma and carcinomas of the kidney, head and neck, oesophagus and lung. Thus, sIL-2Ralpha is elevated in most proliferative disturbances of the hematopoietic system and in many solid tumors. |
| CD44 | CD44 Molecule (Indian Blood Group); Hematopoietic Cell E- And L-Selectin Ligand; GP90 Lymphocyte Homing/Adhesion Receptor; Chondroitin Sulfate Proteoglycan 8; Extracellular Matrix Receptor III; Heparan Sulfate Proteoglycan; Phagocytic Glycoprotein 1; Hyaluronate Receptor; Hermes Antigen; CD44 Antigen; ECMR-III; HUTCH-I; Epican; CDW44; MDU2; MDU3 | 960 | P16070 | The protein encoded by this gene is a cell-surface glycoprotein involved in cell-cell interactions, cell adhesion and migration. It is a receptor for hyaluronic acid (HA) and can also interact with other ligands, such as osteopontin, collagens, and matrix metalloproteinases (MMPs). This protein participates in a wide variety of cellular functions including lymphocyte activation, recirculation and homing, hematopoiesis, and tumor metastasis. Transcripts for this gene undergo complex alternative splicing that results in many functionally distinct isoforms, however, the full length nature of some of these variants has not been determined. Alternative splicing is the basis for the structural and functional diversity of this protein, and may be related to tumor metastasis. |
| CD63 | CD63 antigen; Granulophysin; LAMP-3; Limp1; Melanoma-associated antigen ME491; OMA81H; Ocular melanoma-associated antigen; Tetraspanin-30; Tspan-30 | 967 | P08962 | The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. The encoded protein is a cell surface glycoprotein that is known to complex with integrins. It may function as a blood platelet activation marker. Deficiency of this protein is associated with Hermansky-Pudlak syndrome. Also this gene has been associated with tumor progression. Alternative splicing results in multiple transcript variants encoding different protein isoforms. |
| CDKN2A | Cyclin Dependent Kinase Inhibitor 2A; Cyclin-Dependent Kinase Inhibitor 2A (Melanoma, P16, Inhibits CDK4); Cyclin-Dependent Kinase 4 Inhibitor A; Cyclin-Dependent Kinase Inhibitor 2A; Multiple Tumor Suppressor 1; Alternative Reading Frame; P16-INK4A; P16INK4A; P14ARF; CDKN2; CDK4I; MTS-1; MTS1; MLM | 1029 | P42771 | CDKN2A loss has been shown to be a significant event in a number of cancer types. While no targeted therapeutic has been engaged in clinical trials, the prognostic impact has been studied by a number of meta-analyses. In majority of cases CDKN2A is inactivated by homozygous deletions. One of the mechanisms by which loss of CDKN2A can occur is by hypermethylation of the promoter region for the gene. |
| CHI3L1 | ASRT7; CGP-39; GP-39; GP39; HC-gp39; HCGP-3P; hCGP-39; YK-40; YKL-40; YKL40; YYL-40 | 1116 | P36222 | Chitinases catalyze the hydrolysis of chitin, which is an abundant glycopolymer found in insect exoskeletons and fungal cell walls. The glycoside hydrolase 18 family of chitinases includes eight human family members. This gene encodes a glycoprotein member of the glycosyl hydrolase 18 family. The protein lacks chitinase activity and is secreted by activated macrophages, chondrocytes, neutrophils and synovial cells. The protein is thought to play a role in the process of inflammation and tissue remodeling. |
| CTSD | Cathepsin D; Ceroid-Lipofuscinosis, Neuronal 10; EC 3.4.23.5; CPSD; Epididymis Secretory Sperm Binding Protein Li 130P; Cathepsin D (Lysosomal Aspartyl Protease) | 1509 | P07339 | CTSD (Cathepsin D) is a Protein Coding gene. Diseases associated with CTSD include Ceroid Lipofuscinosis, Neuronal, 10 and Neuronal Ceroid Lipofuscinosis. Among its related pathways are Peptide hormone metabolism and Innate Immune System. Gene Ontology (GO) annotations related to this gene include aspartic-type endopeptidase activity. An important paralog of this gene is ENSG00000250644. |
| CXCL9 | C-X-C Motif Chemokine Ligand 9; Monokine Induced By Gamma Interferon; Monokine Induced By Interferon-Gamma; Gamma-Interferon-Induced Monokine; Chemokine (C-X-C Motif) Ligand 9; Small-Inducible Cytokine B9; Humig | 4283 | Q07325 | CXCL9 (C-X-C Motif Chemokine Ligand 9) is a Protein Coding gene. Diseases associated with CXCL9 include Endotheliitis and Sydenham Chorea. Among its related pathways are PEDF Induced Signaling and Akt Signaling. Gene Ontology (GO) annotations related to this gene include cytokine activity and CXCR3 chemokine receptor binding. An important paralog of this gene is CXCL10. |
| DLL3 | Delta Like Canonical Notch Ligand 3; Drosophila Delta Homolog 3; Delta3; Delta (Drosophila)-Like 3; Delta-Like 3 (Drosophila); Delta-Like Protein 3; Delta-Like 3; SCDO1 | 10683 | Q9NYJ7 | This gene encodes a member of the delta protein ligand family. This family functions as Notch ligands that are characterized by a DSL domain, EGF repeats, and a transmembrane domain. Mutations in this gene cause autosomal recessive spondylocostal dysostosis 1. Two transcript variants encoding distinct isoforms have been identified for this gene. |
| EGFR | Epidermal Growth Factor Receptor; Receptor Tyrosine-Protein Kinase ErbB-1; Erb-B2 Receptor Tyrosine Kinase 1; Proto-Oncogene C-ErbB-1; EC 2.7.10.1; ERBB1; ERBB; HER1; Epidermal Growth Factor Receptor (Avian Erythroblastic Leukemia Viral (V-Erb-B) Oncogene Homolog); Erythroblastic Leukemia Viral (V-Erb-B) Oncogene Homolog (Avian) | 1956 | P00533 | The protein encoded by this gene is a transmembrane glycoprotein that is a member of the protein kinase superfamily. This protein is a receptor for members of the epidermal growth factor family. EGFR is a cell surface protein that binds to epidermal growth factor. Binding of the protein to a ligand induces receptor dimerization and tyrosine autophosphorylation and leads to cell proliferation. Mutations in this gene are associated with lung cancer. [provided by RefSeq, Jun 2016] |
| ENO1 | Enolase 1; 2-Phospho-D-Glycerate Hydro-Lyase; Plasminogen-Binding Protein; Phosphopyruvate Hydratase; Enolase 1, (Alpha); Non-Neural Enolase; Alpha-Enolase; EC 4.2.1.11; ENO1L1; MPB1; NNE; Epididymis Secretory Protein Li 17; C-Myc Promoter-Binding Protein-1 | 2023 | P06733 | This gene encodes alpha-enolase, one of three enolase isoenzymes found in mammals. Each isoenzyme is a homodimer composed of 2 alpha, 2 gamma, or 2 beta subunits, and functions as a glycolytic enzyme. Alpha-enolase in addition, functions as a structural lens protein (tau-crystallin) in the monomeric form. Alternative splicing of this gene results in a shorter isoform that has been shown to bind to the c-myc promoter and function as a tumor suppressor. Several pseudogenes have been identified, including one on the long arm of chromosome 1. Alpha-enolase has also been identified as an autoantigen in Hashimoto encephalopathy. [provided by RefSeq, Jan 2011] |
| FGF2 | Fibroblast Growth Factor 2; Fibroblast Growth Factor 2 (Basic); Heparin-Binding Growth Factor 2; HBGF-2; FGF-2; BFGF | 2247 | P09038 | The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members bind heparin and possess broad mitogenic and angiogenic activities. This protein has been implicated in diverse biological processes, such as limb and nervous system development, wound healing, and tumor growth. The mRNA for this gene contains multiple polyadenylation sites, and is alternatively translated from non-AUG (CUG) and AUG initiation codons, resulting in five different isoforms with distinct properties. The CUG-initiated isoforms are localized in the nucleus and are responsible for the intracrine effect, whereas, the AUG-initiated form is mostly cytosolic and is responsible for the paracrine and autocrine effects of this FGF. [provided by RefSeq, Jul 2008] |
| FLT1 | Fms Related Tyrosine Kinase 1; Vascular Permeability Factor Receptor; Fms-Related Tyrosine Kinase 1 (Vascular Endothelial Growth Factor/Vascular Permeability Factor Receptor); Vascular Endothelial Growth Factor Receptor 1; Tyrosine-Protein Kinase Receptor FLT; Tyrosine-Protein Kinase FRT; Fms-Like Tyrosine Kinase 1 | 2321 | P17948 | This gene encodes a member of the vascular endothelial growth factor receptor (VEGFR) family. VEGFR family members are receptor tyrosine kinases (RTKs) which contain an extracellular ligand-binding region with seven immunoglobulin (Ig)-like domains, a transmembrane segment, and a tyrosine kinase (TK) domain within the cytoplasmic domain. This protein binds to VEGFR-A, VEGFR-B and placental growth factor and plays an important role in angiogenesis and vasculogenesis. Expression of this receptor is found in vascular endothelial cells, placental trophoblast cells and peripheral blood monocytes. Multiple transcript variants encoding different isoforms have been found for this gene. Isoforms include a full-length transmembrane receptor isoform and shortened, soluble isoforms. The soluble isoforms are associated with the onset of pre-eclampsia. |
| FOXM1 | Forkhead Box M1; M-Phase Phosphoprotein 2; Hepatocyte Nuclear Factor 3 Forkhead Homolog 11; Winged-Helix Factor From INS-1 Cells; Forkhead-Related Protein FKHL16; MPM-2 Reactive Phosphoprotein 2; Transcription Factor Trident; HNF-3/Fork-Head Homolog 11; FKHL16; HFH-11; HFH11; MPP2 | 2305 | Q08050 | The protein encoded by this gene is a transcriptional activator involved in cell proliferation. The encoded protein is phosphorylated in M phase and regulates the expression of several cell cycle genes, such as cyclin B1 and cyclin D1. Several transcript variants encoding different isoforms have been found for this gene. |
| FSTL1 | FRP; FSL1; OCC1; OCC-1; tsc36; MIR198 | 11167 | Q12841 | Follistatin-related protein 1 (FSTL1) is an extracellular glycoprotein whose functional significance in physiological and pathological processes is incompletely understood. Recently, we have shown that FSTL1 acts as a muscle-derived secreted factor that is up-regulated by Akt activation and ischemic stress and that FSTL1 exerts favorable actions on the heart and vasculature. Here, we sought to identify the receptor that mediates the cellular actions of FSTL1. It contains an FS module, a follistatin-like sequence containing 10 conserved cysteine residues. FSTL1 is thought to be an autoantigen associated with rheumatoid arthritis. DIP2A functions as a novel receptor that mediates the cardiovascular protective effects of FSTL1. Experiment results have provided in vivo and in vitro evidence to demonstrate that Fstl1 modulates lung development and alveolar maturation, in part, through BMP4 signaling. |
| GABRA1 | Gabra1 | 2554 | P14867 | Enables diazepam binding activity. Contributes to GABA receptor activity. Involved in GABAergic synaptic transmission and cellular response to histamine. Located in membrane. Is integral component of plasma membrane. Part of GABA receptor complex. Is active in GABA-ergic synapse. Is integral component of postsynaptic specialization membrane. Biomarker of hepatic encephalopathy. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 19 and idiopathic generalized epilepsy 13. Orthologous to human GABRA1 (gamma-aminobutyric acid type A receptor subunit alpha1). |
| GADD45A | DDIT1; GADD45 | 1647 | P24522 | This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The protein encoded by this gene responds to environmental stresses by mediating activation of the p38/JNK pathway via MTK1/MEKK4 kinase. The DNA damage-induced transcription of this gene is mediated by both p53-dependent and -independent mechanisms. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.[provided by RefSeq, Dec 2010] |
| GAS1 | GAS1; Growth arrest-specific protein 1 precursor | 2619 | P54826 | Growth arrest-specific 1 plays a role in growth suppression. GAS1 blocks entry to S phase and prevents cycling of normal and transformed cells. Gas1 is a putative tumor suppressor gene. [provided by RefSeq, Jul 2008] |
| GFAP | Glial Fibrillary Acidic Protein; Intermediate Filament Protein; ALXDRD | 2670 | P14136 | This gene encodes one of the major intermediate filament proteins of mature astrocytes. It is used as a marker to distinguish astrocytes from other glial cells during development. Mutations in this gene cause Alexander disease, a rare disorder of astrocytes in the central nervous system. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008] |
| GPX3 | GPX3; GPXP; GSHPx-3; Extracellular Glutathione Peroxidase; Plasma Glutathione Peroxidase; EC 1.11.1; EC 1.11.1.9; GPx-P; GPx-3; Glutathione Peroxidase 3 (Plasma); Glutathione Peroxidase 3; GSHPx-P | 2878 | P22352 | Protects cells and enzymes from oxidative damage, by catalyzing the reduction of hydrogen peroxide, lipid peroxides and organic hydroperoxide, by glutathione |
| GSN | Gelsolin; Actin-Depolymerizing Factor; Brevin; AGEL; ADF; Gelsolin (Amyloidosis, Finnish Type); Amyloidosis, Finnish Type | 2934 | P06396 | The protein encoded by this gene binds to the "plus" ends of actin monomers and filaments to prevent monomer exchange. The encoded calcium-regulated protein functions in both assembly and disassembly of actin filaments. Defects in this gene are a cause of familial amyloidosis Finnish type (FAF). Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] |
| IDH1 | Isocitrate Dehydrogenase (NADP(+)) 1, Cytosolic | 3417 | O75874 | Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two distinct subclasses, one of which utilizes NAD(+) as the electron acceptor and the other NADP(+). Five isocitrate dehydrogenases have been reported: three NAD(+)-dependent isocitrate dehydrogenases, which localize to the mitochondrial matrix, and two NADP(+)-dependent isocitrate dehydrogenases, one of which is mitochondrial and the other predominantly cytosolic. Each NADP(+)-dependent isozyme is a homodimer. The protein encoded by this gene is the NADP(+)-dependent isocitrate dehydrogenase found in the cytoplasm and peroxisomes. It contains the PTS-1 peroxisomal targeting signal sequence. The presence of this enzyme in peroxisomes suggests roles in the regeneration of NADPH for intraperoxisomal reductions, such as the conversion of 2, 4-dienoyl-CoAs to 3-enoyl-CoAs, as well as in peroxisomal reactions that consume 2-oxoglutarate, namely the alpha-hydroxylation of phytanic acid. The cytoplasmic enzyme serves a significant role in cytoplasmic NADPH production. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Sep 2013] |
| IgE | Immunoglobulin E; IgE | P06336 | Immunoglobulin E (IgE) is a type of antibody (or immunoglobulin (Ig) "isotype") that has only been found in mammals. IgE is synthesised by plasma cells. Monomers of IgE consist of two heavy chains (ε chain) and two light chains, with the ε chain containing 4 Ig-like constant domains (Cε1-Cε4). | |
| IGFBP2 | Insulin Like Growth Factor Binding Protein 2 | 3485 | P18065 | The protein encoded by this gene is one of six similar proteins that bind insulin-like growth factors I and II (IGF-I and IGF-II). The encoded protein can be secreted into the bloodstream, where it binds IGF-I and IGF-II with high affinity, or it can remain intracellular, interacting with many different ligands. High expression levels of this protein promote the growth of several types of tumors and may be predictive of the chances of recovery of the patient. Several transcript variants, one encoding a secreted isoform and the others encoding nonsecreted isoforms, have been found for this gene. |
| IL25 | IL17E; interleukin-25; interleukin-17E | 64806 | Q9H293 | The protein encoded by this gene is a cytokine that shares sequence similarity with interleukin 17. This cytokine can induce NF-kappaB activation, and stimulate the production of interleukin 8. Both this cytokine and interleukin 17B are ligands for the cytokine receptor IL17BR. Studies of a similar gene in mice suggest that this cytokine may be a pro-inflammatory cytokine favoring the Th2-type immune response. Alternative splicing results in multiple transcript variants. |
| IL-6 | CDF; HGF; HSF; BSF2; IL-6; BSF-2; IFNB2; IFN-beta-2 | Interleukin-6 (IL-6) is a multifunctional α-helical cytokine that regulates cell growth and differentiation of various tissues, which is known particularly for its role in the immune response and acute phase reactions. IL-6 protein is secreted by a variety of cell types including T cells and macrophages as phosphorylated and variably glycosylated molecule. It exerts actions through the its heterodimeric receptor composed of IL-6R that lacks the tyrosine/kinase domain and binds IL-6 with low affinity, and ubiquitously expressed glycoprotein 130 (gp130) that binds the IL-6. IL-6R complex with high affinity and thus transduces signals. IL-6 is also involved in hematopoiesis, bone metabolism, and cancer progression, and has been defined an essential role in directing transition from innate to acquired immunity. | ||
| IQGAP1 | IQ Motif Containing GTPase Activating Protein 1 | 8826 | P46940 | This gene encodes a member of the IQGAP family. The protein contains four IQ domains, one calponin homology domain, one Ras-GAP domain and one WW domain. It interacts with components of the cytoskeleton, with cell adhesion molecules, and with several signaling molecules to regulate cell morphology and motility. Expression of the protein is upregulated by gene amplification in two gastric cancer cell lines. |
| JAG1 | AGS; AHD; AWS; HJ1; AGS1; DCHE; CD339; JAGL1; CMT2HH | 182 | P78504 | The jagged 1 protein encoded by JAG1 is the human homolog of the Drosophilia jagged protein. Human jagged 1 is the ligand for the receptor notch 1, the latter is involved in signaling processes. Mutations that alter the jagged 1 protein cause Alagille syndrome. Jagged 1 signalling through notch 1 has also been shown to play a role in hematopoiesis. |
| MGMT | O-6-Methylguanine-DNA Methyltransferase; Methylated-DNA--Protein-Cysteine Methyltransferase; -O-Methylguanine-DNA Methyltransferase; O-6-Methylguanine-DNA-Alkyltransferase; EC 2.1.1.63; O6-Methylguanine-DNA Methyltransferase; Methylguanine-DNA Methyltransferase | 4255 | P16455 | Alkylating agents are potent carcinogens that can result in cell death, mutation and cancer. The protein encoded by this gene is a DNA repair protein that is involved in cellular defense against mutagenesis and toxicity from alkylating agents. The protein catalyzes transfer of methyl groups from O(6)-alkylguanine and other methylated moieties of the DNA to its own molecule, which repairs the toxic lesions. Methylation of the genes promoter has been associated with several cancer types, including colorectal cancer, lung cancer, lymphoma and glioblastoma. [provided by RefSeq, Sep 2015] |
| MMP9 | Matrix Metallopeptidase 9; Matrix Metalloproteinase 9 (Gelatinase B, 92kDa Gelatinase, 92kDa Type IV Collagenase); EC 3.4.24.35; CLG4B; MMP-9; GELB; Matrix Metallopeptidase 9 (Gelatinase B, 92kDa Gelatinase, 92kDa Type IV Collagenase); Matrix Metalloproteinase-9 | 4318 | P14780 | Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. The enzyme encoded by this gene degrades type IV and V collagens. Studies in rhesus monkeys suggest that the enzyme is involved in IL-8-induced mobilization of hematopoietic progenitor cells from bone marrow, and murine studies suggest a role in tumor-associated tissue remodeling. [provided by RefSeq, Jul 2008] |
| NAMPT | Nicotinamide Phosphoribosyltransferase; Visfatin; Pre-B-Cell Colony-Enhancing Factor 1; Pre-B Cell-Enhancing Factor; EC 2.4.2.12; NAmPRTase; PBEF1 | 10135 | P43490 | This gene encodes a protein that catalyzes the condensation of nicotinamide with 5-phosphoribosyl-1-pyrophosphate to yield nicotinamide mononucleotide, one step in the biosynthesis of nicotinamide adenine dinucleotide. The protein belongs to the nicotinic acid phosphoribosyltransferase (NAPRTase) family and is thought to be involved in many important biological processes, including metabolism, stress response and aging. This gene has a pseudogene on chromosome 10. |
| NCAM2 | Neural Cell Adhesion Molecule 2; N-CAM-2; NCAM-2; NCAM21 | 4685 | O15394 | The protein encoded by this gene belongs to the immunoglobulin superfamily. It is a type I membrane protein and may function in selective fasciculation and zone-to-zone projection of the primary olfactory axons. [provided by RefSeq, Jul 2008] |
| NEFL | Neurofilament Light; Protein Phosphatase 1, Regulatory Subunit 110; Neurofilament, Light Polypeptide 68kDa; Neurofilament Triplet L Protein; NF-L; NF68; NFL; Light Molecular Weight Neurofilament Protein; Neurofilament Protein, Light Chain | 4747 | P07196 | Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and they functionally maintain the neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the light chain neurofilament protein. Mutations in this gene cause Charcot-Marie-Tooth disease types 1F (CMT1F) and 2E (CMT2E), disorders of the peripheral nervous system that are characterized by distinct neuropathies. A pseudogene has been identified on chromosome Y. [provided by RefSeq, Oct 2008] |
| NES | Nestin | 10763 | P48681 | This gene encodes a member of the intermediate filament protein family and is expressed primarily in nerve cells. |
| NOTCH3 | Notch 3; Neurogenic Locus Notch Homolog Protein 3; Notch (Drosophila) Homolog 3; Notch Homolog 3 (Drosophila); Notch Homolog 3; CADASIL1 | 4854 | Q9UM47 | This gene encodes the third discovered human homologue of the Drosophilia melanogaster type I membrane protein notch. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signalling pathway that plays a key role in neural development. Homologues of the notch-ligands have also been identified in human, but precise interactions between these ligands and the human notch homologues remains to be determined. Mutations in NOTCH3 have been identified as the underlying cause of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). |
| NPDC-1 | NPDC1 | Q8WXX4 | NPDC-1 has been shown to bind to E2F-1, a variety of cyclins, and to drive differentiation events in neuronal precursor cells. | |
| OLIG2 | Oligodendrocyte Transcription Factor 2; Oligodendrocyte-Specific BHLH Transcription Factor 2; Basic Domain; Helix-Loop-Helix Protein; Class B; 1; Oligodendrocyte Lineage Transcription Factor 2; Human Protein Kinase C-Binding Protein RACK17; Class E Basic Helix-Loop-Helix Protein 19; Class B Basic Helix-Loop-Helix Protein 1; Protein Kinase C Binding Protein 2 | 10215 | Q13516 | This gene encodes a basic helix-loop-helix transcription factor which is expressed in oligodendroglial tumors of the brain. The protein is an essential regulator of ventral neuroectodermal progenitor cell fate. The gene is involved in a chromosomal translocation t(14;21)(q11.2;q22) associated with T-cell acute lymphoblastic leukemia. Its chromosomal location is within a region of chromosome 21 which has been suggested to play a role in learning deficits associated with Down syndrome. |
| p53 | 7157 | K7PPA8 | ||
| PDGFRA | Platelet Derived Growth Factor Receptor Alpha; Platelet-Derived Growth Factor Receptor, Alpha Polypeptide; Alpha-Type Platelet-Derived Growth Factor Receptor; Platelet-Derived Growth Factor Receptor 2; CD140 Antigen-Like Family Member A; CD140a Antigen; PDGF-R-Alpha; EC 2.7.10.1; PDGFR-2 | 5156 | P16234 | This gene encodes a cell surface tyrosine kinase receptor for members of the platelet-derived growth factor family. These growth factors are mitogens for cells of mesenchymal origin. The identity of the growth factor bound to a receptor monomer determines whether the functional receptor is a homodimer or a heterodimer, composed of both platelet-derived growth factor receptor alpha and beta polypeptides. Studies suggest that this gene plays a role in organ development, wound healing, and tumor progression. Mutations in this gene have been associated with idiopathic hypereosinophilic syndrome, somatic and familial gastrointestinal stromal tumors, and a variety of other cancers. [provided by RefSeq, Mar 2012] |
| PIK3R1 | Phosphoinositide-3-Kinase Regulatory Subunit 1; Phosphatidylinositol 3-Kinase 85 KDa Regulatory Subunit Alpha; Phosphoinositide-3-Kinase, Regulatory Subunit 1 (Alpha); Phosphoinositide-3-Kinase Regulatory Subunit Alpha; PtdIns-3-Kinase Regulatory Subunit Alpha; PI3K Regulatory Subunit Alpha; PI3-Kinase Subunit P85-Alpha; GRB1; Phosphatidylinositol 3-Kinase, Regulatory Subunit, Polypeptide 1 (P85 Alpha) | 5295 | P27986 | Phosphatidylinositol 3-kinase phosphorylates the inositol ring of phosphatidylinositol at the 3-prime position. The enzyme comprises a 110 kD catalytic subunit and a regulatory subunit of either 85, 55, or 50 kD. This gene encodes the 85 kD regulatory subunit. Phosphatidylinositol 3-kinase plays an important role in the metabolic actions of insulin, and a mutation in this gene has been associated with insulin resistance. Alternative splicing of this gene results in four transcript variants encoding different isoforms. [provided by RefSeq, Jun 2011] |
| PRDX2 | PRDX2; NKEFB; TDPX1; Peroxiredoxin-2; Natural killer cell-enhancing factor B; NKEF-B; PRP; Thiol-specific antioxidant protein; TSA; Thioredoxin peroxidase 1; Thioredoxin-dependent peroxide reductase 1 | 7001 | P32119 | This gene encodes a member of the peroxiredoxin family of antioxidant enzymes, which reduce hydrogen peroxide and alkyl hydroperoxides. The encoded protein plays an antioxidant protective role in cells, and it may contribute to the antiviral activity of CD8(+) T-cells. The crystal structure of this protein has been resolved to 2.7 angstroms. This protein prevents hemolytic anemia from oxidative stress by stabilizing hemoglobin, thus making this gene a therapeutic target for patients with hemolytic anemia. This protein may have a proliferative effect and play a role in cancer development or progression. Related pseudogenes have been identified on chromosomes 5, 6, 10 and 13. |
| PTEN | BZS; DEC; CWS1; GLM2; MHAM; TEP1; MMAC1; PTEN1; 10q23del; PTENbeta | 5728 | P60484 | This gene was identified as a tumor suppressor that is mutated in a large number of cancers at high frequency. The protein encoded by this gene is a phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase. |
| PTPRZ1 | PTPZ; HPTPZ; PTP18; PTPRZ; RPTPB; HPTPzeta; PTP-ZETA; RPTPbeta; phosphacan; R-PTP-zeta-2 | 5803 | B4DFE7 | This gene encodes a member of the receptor protein tyrosine phosphatase family. Expression of this gene is restricted to the central nervous system (CNS), and it may be involved in the regulation of specific developmental processes in the CNS. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. |
| S100A10 | S100 Calcium Binding Protein A10; S100 Calcium Binding Protein A10 (Annexin II Ligand, Calpactin I, Light Polypeptide (P11)); Annexin II Tetramer (AIIt) P11 Subunit; Cellular Ligand Of Annexin II; Calpactin I Light Chain; Calpactin-1 Light Chain; ANX2LG; CAL1L; CLP11; P11; S100 Calcium-Binding Protein A10 (Annexin II Ligand, Calpactin I, Light Polypeptide (P11)) | 6281 | P60903 | The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in exocytosis and endocytosis. |
| S100A6 | S100 Calcium Binding Protein A6; Prolactin Receptor-Associated Protein; Growth Factor-Inducible Protein 2A9; Calcyclin; MLN 4; CACY; PRA; S100 Calcium-Binding Protein A6 (Calcyclin) | 6277 | P06703 | The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in stimulation of Ca2+-dependent insulin release, stimulation of prolactin secretion, and exocytosis. Chromosomal rearrangements and altered expression of this gene have been implicated in melanoma. [provided by RefSeq, Jul 2008] |
| SOD2 | Superoxide Dismutase 2; Superoxide Dismutase 2, Mitochondrial; EC 1.15.1.1; Manganese-Containing Superoxide Dismutase; Superoxide Dismutase [Mn], Mitochondrial; Mangano-Superoxide Dismutase; Mn Superoxide Dismutase | 6648 | P04179 | This gene is a member of the iron/manganese superoxide dismutase family. It encodes a mitochondrial protein that forms a homotetramer and binds one manganese ion per subunit. This protein binds to the superoxide byproducts of oxidative phosphorylation and converts them to hydrogen peroxide and diatomic oxygen. Mutations in this gene have been associated with idiopathic cardiomyopathy (IDC), premature aging, sporadic motor neuron disease, and cancer. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 1. [provided by RefSeq, Apr 2016] |
| SPARCL1 | SC1; MAST9; PIG33; MAST 9 | 8404 | Q14515 | SPARC-like protein 1 (SPARCL1), also known as hevin, is a secreted protein with high structural similarity to SPARC. SPARCLl (secreted protein acidic and rich inCysteine like 1) is a member of SPARC family, a glycoprotein exocrine to secretory stromal cells, a tumor suppressor molecule that inhibits cell proliferation, invasion and metastasis. Abnormal changes occur in some tumors, and too little secretion promotes the occurrence and development of tumors. |
| SYT1 | P65 | 6857 | P21579 | Enables several functions, including calmodulin binding activity; phospholipid binding activity; and syntaxin binding activity. Involved in several processes, including positive regulation of dopamine secretion; regulation of vesicle-mediated transport; and response to calcium ion. Located in several cellular components, including excitatory synapse; neuron projection terminus; and secretory vesicle. Is active in hippocampal mossy fiber to CA3 synapse. Is integral component of synaptic vesicle membrane. Biomarker of visual epilepsy. Orthologous to human SYT1 (synaptotagmin 1). |
| TIMP1 | TIMP Metallopeptidase Inhibitor 1; Tissue Inhibitor Of Metalloproteinases 1; Fibroblast Collagenase Inhibitor; Collagenase Inhibitor; TIMP-1; CLGI; TIMP; EPA | 7076 | P01033 | This gene belongs to the TIMP gene family. The proteins encoded by this gene family are natural inhibitors of the matrix metalloproteinases (MMPs), a group of peptidases involved in degradation of the extracellular matrix. In addition to its inhibitory role against most of the known MMPs, the encoded protein is able to promote cell proliferation in a wide range of cell types, and may also have an anti-apoptotic function. Transcription of this gene is highly inducible in response to many cytokines and hormones. In addition, the expression from some but not all inactive X chromosomes suggests that this gene inactivation is polymorphic in human females. This gene is located within intron 6 of the synapsin I gene and is transcribed in the opposite direction. [provided by RefSeq, Jul 2008] |
| TIMP3 | TIMP3; Human TIMP3 | 7078 | P35625 | |
| TIMP4 | TIMP4; TIMP Metallopeptidase Inhibitor 4; Metalloproteinase Inhibitor 4; TIMP-4; Tissue Inhibitor Of Metalloproteinase 4 | 7079 | Q99727 | Complexes with metalloproteinases (such as collagenases) and irreversibly inactivates them by binding to their catalytic zinc cofactor. Known to act on MMP-1, MMP-2, MMP-3, MMP-7 and MMP-9 |
| Tnc | GP; JI; TN; HXB; GMEM; TN-C; DFNA56; 150-225 | 3371 | P24821 | This gene encodes an extracellular matrix protein with a spatially and temporally restricted tissue distribution. This protein is homohexameric with disulfide-linked subunits, and contains multiple EGF-like and fibronectin type-III domains. It is implicated in guidance of migrating neurons as well as axons during development, synaptic plasticity, and neuronal regeneration. |
| Tnfsf13 | APRIL; CD256; TALL2; ZTNF2; TALL-2; TNLG7B; TRDL-1; UNQ383/PRO715 | 69583 | Q5F2A4 | The protein encoded by this gene is a member of the tumor necrosis factor (TNF) ligand family. This protein is a ligand for TNFRSF17/BCMA, a member of the TNF receptor family. This protein and its receptor are both found to be important for B cell development. In vitro experiments suggested that this protein may be able to induce apoptosis through its interaction with other TNF receptor family proteins such as TNFRSF6/FAS and TNFRSF14/HVEM. Alternative splicing results in multiple transcript variants. Some transcripts that skip the last exon of the upstream gene (TNFSF12) and continue into the second exon of this gene have been identified; such read-through transcripts are contained in GeneID 407977, TNFSF12-TNFSF13. |
| TOP2A | DNA Topoisomerase II Alpha; Topoisomerase (DNA) II Alpha 170kDa; DNA Topoisomerase II, Alpha Isozyme; EC 5.99.1.3; TOP2; DNA Topoisomerase (ATP-Hydrolyzing) | 7153 | P11388 | This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This nuclear enzyme is involved in processes such as chromosome condensation, chromatid separation, and the relief of torsional stress that occurs during DNA transcription and replication. It catalyzes the transient breaking and rejoining of two strands of duplex DNA which allows the strands to pass through one another, thus altering the topology of DNA. Two forms of this enzyme exist as likely products of a gene duplication event. The gene encoding this form, alpha, is localized to chromosome 17 and the beta gene is localized to chromosome 3. The gene encoding this enzyme functions as the target for several anticancer agents and a variety of mutations in this gene have been associated with the development of drug resistance. Reduced activity of this enzyme may also play a role in ataxia-telangiectasia. [provided by RefSeq, Jul 2010] |
| VEGFA | MVCD1; VEGF; VPF | 7422 | P15692 | This gene is a member of the PDGF/VEGF growth factor family. It encodes a heparin-binding protein, which exists as a disulfide-linked homodimer. This growth factor induces proliferation and migration of vascular endothelial cells, and is essential for both physiological and pathological angiogenesis. Disruption of this gene in mice resulted in abnormal embryonic blood vessel formation. This gene is upregulated in many known tumors and its expression is correlated with tumor stage and progression. Elevated levels of this protein are found in patients with POEMS syndrome, also known as Crow-Fukase syndrome. Allelic variants of this gene have been associated with microvascular complications of diabetes 1 (MVCD1) and atherosclerosis. Alternatively spliced transcript variants encoding different isoforms have been described. There is also evidence for alternative translation initiation from upstream non-AUG (CUG) codons resulting in additional isoforms. A recent study showed that a C-terminally extended isoform is produced by use of an alternative in-frame translation termination codon via a stop codon readthrough mechanism, and that this isoform is antiangiogenic. Expression of some isoforms derived from the AUG start codon is regulated by a small upstream open reading frame, which is located within an internal ribosome entry site. |
| VEGFR2 | CD309; FLK1; VEGFR; VEGFR2 | 3791 | A0A024RD88 | Vascular endothelial growth factor (VEGF) is a major growth factor for endothelial cells. This gene encodes one of the two receptors of the VEGF. This receptor, known as kinase insert domain receptor, is a type III receptor tyrosine kinase. It functions as the main mediator of VEGF-induced endothelial proliferation, survival, migration, tubular morphogenesis and sprouting. The signalling and trafficking of this receptor are regulated by multiple factors, including Rab GTPase, P2Y purine nucleotide receptor, integrin alphaVbeta3, T-cell protein tyrosine phosphatase, etc.. Mutations of this gene are implicated in infantile capillary hemangiomas. |
Tested Data-Supported Products Targeting Glioma Biomarkers
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References
- erence Whitfield, Benjamin T., and Jason T. Huse. "Classification of adult‐type diffuse gliomas: Impact of the World Health Organization 2021 update." Brain Pathology 32.4 (2022): e13062.
For research use only. Not intended for any clinical use.
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