NKX2.5 Antibody – Mouse Monoclonal

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: transcription factor complex; cytoplasm; nucleus

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

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

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