Aliases for CITED2 Gene
External Ids for CITED2 Gene
The protein encoded by this gene inhibits transactivation of HIF1A-induced genes by competing with binding of hypoxia-inducible factor 1-alpha to p300-CH1. Mutations in this gene are a cause of cardiac septal defects. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]
GeneCards Summary for CITED2 Gene
CITED2 (Cbp/P300-Interacting Transactivator, With Glu/Asp-Rich Carboxy-Terminal Domain, 2) is a Protein Coding gene. Diseases associated with CITED2 include ventricular septal defect 2 and atrial septal defect 8. Among its related pathways are HIF-2-alpha transcription factor network and HIF-1-alpha transcription factor network. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and transcription coactivator activity. An important paralog of this gene is CITED4.
UniProtKB/Swiss-Prot for CITED2 Gene
Transcriptional coactivator of the p300/CBP-mediated trancription complex. Acts as a bridge, linking TFAP2 transcription factors and the p300/CBP transcriptional coactivator complex in order to stimulate TFAP2-mediated transcriptional activation. Positively regulates TGF-beta signaling through its association with the SMAD/p300/CBP-mediated transcriptional coactivator complex. Stimulates the peroxisome proliferator-activated receptors PPARA transcriptional activity. Enhances estrogen-dependent transactivation mediated by estrogen receptors. Acts also as a transcriptional corepressor; interferes with the binding of the transcription factors HIF1A or STAT2 and the p300/CBP transcriptional coactivator complex. Participates in sex determination and early gonad development by stimulating transcription activation of SRY. Plays a role in controlling left-right patterning during embryogenesis; potentiates transcriptional activation of NODAL-mediated gene transcription in the left lateral plate mesoderm (LPM). Plays an essential role in differentiation of the adrenal cortex from the adrenogonadal primordium (AGP); stimulates WT1-mediated transcription activation thereby up-regulating the nuclear hormone receptor NR5A1 promoter activity. Associates with chromatin to the PITX2 P1 promoter region.