CITED2(redirected from P35SRJ)
CITED2A gene on chromosome 6q23.3 which encodes a transcriptional coactivator of the p300/CBP-mediated trancription complex. CITED2 links TFAP2 transcription factors and the p300/CBP transcriptional coactivator complex to stimulate TFAP2-mediated transcriptional activation. CITED2: upregulates TGF-beta signalling by associating with the SMAD/p300/CBP-mediated transcriptional coactivator complex; stimulates the peroxisome proliferator-activated receptors PPARA transcriptional activity; enhances oestrogen-dependent transactivation mediated by oestrogen receptors; 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 activating SRY; plays a role in controlling left-right patterning during embryogenesis; plays an essential role in differentiation of the adrenal cortex from the adrenogonadal primordium (AGP); and upregulates nuclear hormone receptor NR5A1 promoter activity.
Defects in CITED2 cause ventricular septal defect type 2 and atrial septal defect type 8.