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 Cardiac conduction and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. 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
Transcription factor required for the development of the heart and the spleen (PubMed:22560297). During heart development, 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). Together with PBX1, required for spleen development through a mechanism that involves CDKN2B repression (PubMed:22560297).