DISEASES

Disease-gene associations mined from literature

Literature associating NKX2-5 and congenital heart disease

NKX2-5 [ENSP00000327758]

Homeobox protein NK-2 homolog E; 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. It is transcriptionally controlled by PBX1 and acts as a transcriptional repressor of CDKN2B (By similarity). It is required for spleen development; NKL subclass homeoboxes and pseudogenes

Synonyms:  NKX2-5,  A1ECB8,  E5RH49,  P52952,  A1ECB8p ...

Linkouts:  STRING  Pharos  UniProt