C2CD5

Chr 12

C2 calcium dependent domain containing 5

Also known as: CDP138, KIAA0528

NCBI Gene: 9847ENSG00000111731UniProt: Q86YS7

Enables calcium ion binding activity and calcium-dependent phospholipid binding activity. Involved in several processes, including insulin receptor signaling pathway; intracellular protein transmembrane transport; and positive regulation of protein targeting to membrane. Located in several cellular components, including centriolar satellite; cytoplasmic vesicle membrane; and ruffle membrane. [provided by Alliance of Genome Resources, Apr 2025]

Research Assistant →
0
Active trials
3
Pubs (1 yr)
0
P/LP submissions
—
P/LP missense
0.70
LOEUF
—
Mechanism
Clinical Summary— C2CD5
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.70LOEUF
pLI 0.000
Z-score 3.29
OE 0.51 (0.38–0.70)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
2.68Z-score
OE missense 0.67 (0.61–0.73)
353 obs / 526.2 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios
LoF OE0.51 (0.38–0.70)
0≤0.351.4
Missense OE0.67 (0.61–0.73)
0≤0.61.4
Synonymous OE1.14
0≤1.21.6
LoF obs/exp: 27 / 52.8Missense obs/exp: 353 / 526.2Syn Z: -1.48

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

C2CD5 · 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 →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Machine learning based on clinical and gene expression data assists in survival prediction and treatment optimization for diffuse large B-Cell lymphoma patients
Lin J et al.·Ann Hematol
2026Cohort
Genetic parameters and identification of genomic regions and candidate genes associated with vaginal discharge score in Holstein cattle based on genomic and transcriptomic analyses.
Zhang J et al.·J Dairy Sci
2025
Mosaicism for a 12p12.1p12.2 microdeletion with a normal euploid cell line at amniocentesis in a pregnancy with a favorable outcome and postnatal decrease of the aneuploid cell line with microdeletion.
Chen CP et al.·Taiwan J Obstet Gynecol
2023
Core biomarkers analysis benefit for diagnosis on human intrahepatic cholestasis of pregnancy.
Fang Y et al.·BMC Pregnancy Childbirth
2024
Decreased Levels of DNA Methylation in the PCDHA Gene Cluster as a Risk Factor for Early-Onset High Myopia in Young Children
Swierkowska J et al.·Invest Ophthalmol Vis Sci
2022
Top 5 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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