CITED4
Chr 1Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 4
CITED4 encodes a transcriptional coactivator that binds to CBP/p300 and enhances gene transcription by interacting with transcription factor AP2 and estrogen receptors. Mutations cause autosomal recessive developmental delays, intellectual disability, and congenital anomalies including cardiac defects and limb malformations. The gene shows moderate tolerance to loss-of-function variation (pLI 0.35, LOEUF 1.82).
Some data sources returned errors (1)
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CITED4 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools