Gene Symbol | CITED2 |
Entrez Gene ID | 10370 |
Full Name | Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 |
Synonyms | ASD8,MRG-1,MRG1,P35SRJ,VSD2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Ventricular septal defect 2, 614431 (3); Atrial septal defect 8, 614433 (3) |