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EFEMP2
Anti-EFEMP2 Recombinant Antibody Products
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For Research Use Only. Not For Clinical Use.
A large number of extracellular matrix proteins have been found to contain variations of the epidermal growth factor (EGF) domain and have been implicated in functions as diverse as blood coagulation, activation of complement and determination of cell fate during development. The protein encoded by this gene contains four EGF2 domains and six calcium-binding EGF2 domains. This gene is necessary for elastic fiber formation and connective tissue development. Defects in this gene are cause of an autosomal recessive cutis laxa syndrome. Alternatively spliced transcript variants have been identified for this gene.
Protein class
Disease related genes, Human disease related genes, Plasma proteins
Predicted location
Intracellular, Secreted (different isoforms)
Single cell type specificity
Cell type enhanced (Fibroblasts, Smooth muscle cells, Peritubular cells, Leydig cells, Muller glia cells)
Immune cell specificity
Immune cell enhanced (gdT-cell)
Cell line specificity
Cell line enhanced (BJ, BJ hTERT+, fHDF/TERT166, HSkMC, hTERT-RPE1, LHCN-M2, U-138 MG)
Interaction
Homodimer; disulfide-linked (PubMed:19570982, PubMed:23782690). Multimer; allows heparin binding (PubMed:23782690). Monomer (By similarity). Interacts with FBN1 (via N-terminal domain); this interaction inhibits EFEMP2 binding to LOX and ELN (PubMed:17255108, PubMed:19349279, PubMed:19570982). Interacts with LOX (via propeptide); this interaction is strong and facilitates formation of ternary complexes with ELN during elastic fiber assembly; this interaction limits interaction of EFEMP2 with FBLN5 (PubMed:19855011, PubMed:19570982, PubMed:27339457). Interacts with PITX2 (PubMed:22919265). Interacts with ELN with moderate affinity; this interaction regulates ELN self-assembly maturation stage (PubMed:19570982). Interacts with FBLN5 with moderate affinity (PubMed:19570982). Interacts with LOXL1 (via propeptide), LTBP1 and TGFB1 stronger than with LOXL2 and LTBP3 (PubMed:27339457). Interacts with PCOLCE (By similarity). Interacts with collagen type IV trimer (COL4A1-COL4A1-COL4A2), NID2 and moderately with COL15A1-derived endostatin (By similarity). Interacts with EMILIN1; this interaction promotes the incorporation of EFEMP2 into the extracellular matrix (By similarity). Interacts with LTBP4; the LTBP4 long form (LTBP4L) has a stronger binding affinity than the LTBP4 short form and the LTBP4 long form promotes fibrillar deposition of EFEMP2 (PubMed:27339457).
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