CCKAR

Chr 4

cholecystokinin A receptor

Also known as: CCK-1R, CCK-A, CCK1-R, CCK1R, CCKRA

NCBI Gene: 886ENSG00000163394UniProt: P32238OMIM: 118444

This gene encodes a G-protein coupled receptor that binds non-sulfated members of the cholecystokinin (CCK) family of peptide hormones. This receptor is a major physiologic mediator of pancreatic enzyme secretion and smooth muscle contraction of the gallbladder and stomach. In the central and peripheral nervous system this receptor regulates satiety and the release of beta-endorphin and dopamine. [provided by RefSeq, Jul 2008]

OMIMResearchGenerating clinical summary…
0
Active trials
15
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.89
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.89LOEUF
pLI 0.004
Z-score 1.87
OE 0.45 (0.24–0.89)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.31Z-score
OE missense 0.95 (0.85–1.05)
255 obs / 269.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.45 (0.24–0.89)
0≤0.351.4
Missense OE?0.95 (0.85–1.05)
0≤0.61.4
Synonymous OE?1.05
0≤1.21.6
LoF obs/exp: 6 / 13.4Missense obs/exp: 255 / 269.2Syn Z: -0.46

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CCKAR · 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