SMCO2

Chr 12

single-pass membrane protein with coiled-coil domains 2

Also known as: C12orf70

NCBI Gene: 341346ENSG00000165935UniProt: A6NFE2

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.52
LOEUF
Multiple*
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?
1.52LOEUF
pLI 0.000
Z-score 0.20
OE 0.94 (0.60–1.52)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.80Z-score
OE missense 0.82 (0.71–0.95)
127 obs / 155.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.94 (0.60–1.52)
0≤0.351.4
Missense OE?0.82 (0.71–0.95)
0≤0.61.4
Synonymous OE?0.73
0≤1.21.6
LoF obs/exp: 12 / 12.8Missense obs/exp: 127 / 155.0Syn Z: 1.61

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SMCO2 · 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