CITED2 Chromosome 6
Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2
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What This Gene Does
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]
Associated Conditions (2)
Atrial septal defect 8
CITED2-related disorder
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS749590293 | Health Risk | Conflicting classifications of pathogenicity | Atrial septal defect 8, CITED2-related disorder, Atrial septal defect 8 |
| RS1583066622 | Health Risk | Likely pathogenic | Atrial septal defect 8, Atrial septal defect 8 |