CALCOCO1

Chr 12

calcium binding and coiled-coil domain 1

Also known as: Cocoa, PP13275, calphoglin

NCBI Gene: 57658ENSG00000012822UniProt: Q9P1Z2

Enables RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; beta-catenin binding activity; and transcription coactivator activity. Involved in positive regulation of DNA-templated transcription and positive regulation of gene expression. Located in cytosol and nucleus. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
9
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.64
LOEUF
DN
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
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.64LOEUF
pLI 0.000
Z-score 3.38
OE 0.42 (0.29–0.64)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.12Z-score
OE missense 0.84 (0.76–0.92)
319 obs / 380.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.42 (0.29–0.64)
0≤0.351.4
Missense OE?0.84 (0.76–0.92)
0≤0.61.4
Synonymous OE?0.91
0≤1.21.6
LoF obs/exp: 17 / 40.1Missense obs/exp: 319 / 380.7Syn Z: 0.87

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CALCOCO1 · 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