Gene

Gene details

Summary of gene annotations and link-out to annotation databases

Basic gene annotations are collected from Uniprot and displayed with links to original sources. A quick link to explore the genomic context with Uniprot Browser is available.

NKX2-5 - NK2 homeobox 5

Function

Transcription factor required for the development of the heart and the spleen (PubMed:22560297). During heart development, acts as a transcriptional activator of NPPA/ANF in cooperation with GATA4 (By similarity). May cooperate with TBX2 to negatively modulate expression of NPPA/ANF in the atrioventricular canal (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). Positively regulates transcription of genes such as COL3A1 and MMP2, resulting in increased pulmonary endothelial fibrosis in response to hypoxia (PubMed:29899023).

Uniprot Browser
Entrez IDEnsEMBL IDPreferred NameUniprot ID
1482 ENSG00000183072 NKX2-5 P52952

Gene Regulons

List of regulons containing the gene.

A gene can be associated with multiple causal flows as a member of multiple regulons

RegulonProgram# genes# regulators# causal flows