NKX2-5 Antibody – Rabbit Polyclonal

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. [provided by RefSeq, Oct 2009]

NKX2-5: Implicated in commitment to and/or differentiation of the myocardial lineage. Acts as a transcriptional activator of ANF in cooperation with GATA4. 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. Expressed only in the heart. Belongs to the NK-2 homeobox family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: DNA-binding

Chromosomal Location of Human Ortholog: 5q34

Cellular Component: cytoplasm; nucleus; transcription factor complex

Molecular Function: chromatin binding; DNA binding; protein binding; protein heterodimerization activity; protein homodimerization activity; RNA polymerase II transcription factor activity, enhancer binding; sequence-specific DNA binding; transcription factor activity; transcription factor binding

Biological Process: adult heart development; atrial cardiac muscle cell development; BMP signaling pathway; cardiac muscle cell differentiation; cardiac muscle cell proliferation; cardiac muscle contraction; cardiac muscle morphogensis; cell differentiation; embryonic heart tube development; heart looping; heart morphogenesis; hemopoiesis; negative regulation of apoptosis; negative regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent; pharyngeal system development; positive regulation of cardioblast differentiation; positive regulation of cell proliferation; positive regulation of heart contraction; positive regulation of neuron differentiation; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; regulation of cardiac muscle cell proliferation; sarcomere organization; spleen development; thyroid gland development; transcription from RNA polymerase II promoter; vasculogenesis; ventricular cardiac muscle cell development; ventricular cardiac myofibril development; Wnt receptor signaling pathway through beta-catenin

Disease: Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects; Conotruncal Heart Malformations; Hypoplastic Left Heart Syndrome 2; Hypothyroidism, Congenital, Nongoitrous, 5; Tetralogy Of Fallot; Ventricular Septal Defect 3