CITED2

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]

Cbp/P300 Interacting Transactivator With Glu/Asp Rich Carboxy-Terminal Domain 2

Transcriptional coactivator of the p300/CBP-mediated transcription 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.

Adrenal cortex formation Source: UniProtKB
Cell differentiation Source: UniProtKB-KW
Cell population proliferation Source: UniProtKB
Determination of left/right symmetry Source: UniProtKB
Embryonic heart tube left/right pattern formation Source: BHF-UCL
Heart development Source: UniProtKB
Left/right axis specification Source: BHF-UCL
Left/right pattern formation Source: GO_Central
Liver development Source: BHF-UCL
Negative regulation of apoptotic process Source: BHF-UCL
Negative regulation of cell migration Source: BHF-UCL
Negative regulation of gene expression Source: UniProtKB
Negative regulation of transcription, DNA-templated Source: UniProtKB
Negative regulation of transcription by RNA polymerase II Source: BHF-UCL
Negative regulation of transcription from RNA polymerase II promoter in response to hypoxia Source: BHF-UCL
Nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry Source: BHF-UCL
Outflow tract morphogenesis Source: BHF-UCL
Positive regulation of cell-cell adhesion Source: BHF-UCL
Positive regulation of cell cycle Source: UniProtKB
Positive regulation of gene expression Source: UniProtKB
Positive regulation of male gonad development Source: UniProtKB
Positive regulation of peroxisome proliferator activated receptor signaling pathway Source: UniProtKB
Positive regulation of transcription, DNA-templated Source: UniProtKB
Positive regulation of transcription by RNA polymerase II Source: BHF-UCL
Positive regulation of transforming growth factor beta receptor signaling pathway Source: UniProtKB
Regulation of animal organ formation Source: UniProtKB
Response to estrogen Source: UniProtKB
Response to fluid shear stress Source: BHF-UCL
Response to hypoxia Source: UniProtKB
Sex determination Source: UniProtKB
Spleen development Source: BHF-UCL
Ventricular septum morphogenesis Source: BHF-UCL

Nucleus. Colocalizes with EP300 in dot-like structures.

Ventricular septal defect 2 (VSD2):
A common form of congenital cardiovascular anomaly that may occur alone or in combination with other cardiac malformations. It can affect any portion of the ventricular septum, resulting in abnormal communications between the two lower chambers of the heart. Classification is based on location of the communication, such as perimembranous, inlet, outlet (infundibular), central muscular, marginal muscular, or apical muscular defect. Large defects that go unrepaired may give rise to cardiac enlargement, congestive heart failure, pulmonary hypertension, Eisenmenger's syndrome, delayed fetal brain development, arrhythmias, and even sudden cardiac death.
Atrial septal defect 8 (ASD8):
A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria.