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NKX2-5
Anti-NKX2-5 Recombinant Antibody Products
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For Research Use Only. Not For Clinical Use.
This gene encodes a homeobox-containing transcription factor. This transcription factor functions in heart formation and development. Mutations in this gene cause atrial septal defect with atrioventricular conduction defect, and also tetralogy of Fallot, which are both heart malformation diseases. Mutations in this gene can also cause congenital hypothyroidism non-goitrous type 5, a non-autoimmune condition. Alternative splicing results in multiple transcript variants.
Protein class
Disease related genes, Human disease related genes, Transcription factors
Predicted location
Intracellular
Single cell type specificity
Cell type enriched (Cardiomyocytes)
Immune cell specificity
Not detected in immune cells
Cell line specificity
Cell line enhanced (HEK93, NTERA-2, SK-MEL-30, U-2 OS, U-251 MG)
Interaction
Homodimer (via the homeobox); binds DNA as homodimer (PubMed:22849347). Interacts (via the homeobox) with TBX5 (via the T-box); this complex binds DNA (PubMed:26926761). Interacts with HIPK1 and HIPK2, but not HIPK3. Interacts with the C-terminal zinc finger of GATA4 through its homeobox domain. Also interacts with JARID2 which represses its ability to activate transcription of ANF. Interacts with FBLIM1. Interacts with TBX18 (By similarity). Interacts with histone methyltransferase NSD2 (via HMG box) (By similarity).
Molecular function
Developmental protein, DNA-binding
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