CITED2

Chr 6

Cbp/p300 interacting transactivator with ED-rich tail 2

Also known as: ASD8, MRG-1, MRG1, P35SRJ, VSD2

NCBI Gene: 10370ENSG00000164442UniProt: Q99967

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtVentricular septal defect 2
UniProtAtrial septal defect 8

Clinical highlights

Gene-disease validity (ClinGen)
congenital heart disease · ADModerateconsider for supplementary testing
Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
39
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.63
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.63LOEUF
pLI 0.763
Z-score 2.02
OE 0.00 (0.00–0.63)
Moderately constrained

Typical tolerance to LoF variation

Missense Constraint?
-0.47Z-score
OE missense 1.10 (0.98–1.25)
179 obs / 162.0 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.00 (0.00–0.63)
0≤0.351.4
Missense OE?1.10 (0.98–1.25)
0≤0.61.4
Synonymous OE?1.76
0≤1.21.6
LoF obs/exp: 0 / 4.8Missense obs/exp: 179 / 162.0Syn Z: -4.72

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CITED2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients