OCIAD2

Chr 4

OCIA domain containing 2

NCBI Gene: 132299ENSG00000145247UniProt: Q56VL3OMIM: 619633

Involved in cell migration and mitochondrial respiratory chain complex III assembly. Located in endosome and mitochondrial inner membrane. [provided by Alliance of Genome Resources, Jun 2026]

OMIMResearchGenerating clinical summary…
0
Active trials
12
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.34
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.34LOEUF
pLI 0.000
Z-score 0.78
OE 0.74 (0.44–1.34)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.29Z-score
OE missense 0.91 (0.75–1.10)
74 obs / 81.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.74 (0.44–1.34)
0≤0.351.4
Missense OE?0.91 (0.75–1.10)
0≤0.61.4
Synonymous OE?0.81
0≤1.21.6
LoF obs/exp: 8 / 10.7Missense obs/exp: 74 / 81.3Syn Z: 0.78

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

OCIAD2 · 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