Aliases for NKX2-5 Gene
External Ids for NKX2-5 Gene
Previous HGNC Symbols for NKX2-5 Gene
Previous GeneCards Identifiers for NKX2-5 Gene
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]
GeneCards Summary for NKX2-5 Gene
NKX2-5 (NK2 Homeobox 5) is a Protein Coding gene. Diseases associated with NKX2-5 include Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects and Ventricular Septal Defect 3. Among its related pathways are Heart Development and Gene Expression. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is NKX2-3.
UniProtKB/Swiss-Prot Summary for NKX2-5 Gene
Implicated in commitment to and/or differentiation of the myocardial lineage. Acts as a transcriptional activator of ANF in cooperation with GATA4 (By similarity). Binds to the core DNA motif of NPPA promoter (PubMed:22849347, PubMed:26926761). It is transcriptionally controlled by PBX1 and acts as a transcriptional repressor of CDKN2B (By similarity). It is required for spleen development.