SMIM13

Chr 6

small integral membrane protein 13

Also known as: C6orf228

NCBI Gene: 221710ENSG00000224531UniProt: P0DJ93

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

ResearchGenerating clinical summary…
0
Active trials
1
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.57
LOEUF
GOF
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?
1.57LOEUF
pLI 0.192
Z-score 0.94
OE 0.38 (0.13–1.57)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.69Z-score
OE missense 0.71 (0.53–0.95)
31 obs / 43.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.38 (0.13–1.57)
0≤0.351.4
Missense OE?0.71 (0.53–0.95)
0≤0.61.4
Synonymous OE?1.06
0≤1.21.6
LoF obs/exp: 1 / 2.7Missense obs/exp: 31 / 43.9Syn Z: -0.20

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SMIM13 · 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