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SMIM2

Chr 13

small integral membrane protein 2

Also known as: C13orf44

NCBI Gene: 79024UniProt: Q9BVW6

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

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.74
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/SMIM2?content-type=application/json

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?
1.74LOEUF
pLI 0.042
Z-score 0.51
OE 0.68 (0.27–1.74)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.91Z-score
OE missense 0.64 (0.48–0.86)
32 obs / 50.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.68 (0.27–1.74)
0≤0.351.4
Missense OE?0.64 (0.48–0.86)
0≤0.61.4
Synonymous OE?0.62
0≤1.21.6
LoF obs/exp: 2 / 2.9Missense obs/exp: 32 / 50.2Syn Z: 1.30

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SMIM2 · 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