SMIM8

Chr 6

small integral membrane protein 8

Also known as: C6orf162, dJ102H19.2

NCBI Gene: 57150ENSG00000111850UniProt: Q96KF7

Located in mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.88
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?
1.88LOEUF
pLI 0.006
Z-score -0.13
OE 1.08 (0.46–1.88)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.22Z-score
OE missense 1.08 (0.88–1.35)
57 obs / 52.6 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.08 (0.46–1.88)
0≤0.351.4
Missense OE?1.08 (0.88–1.35)
0≤0.61.4
Synonymous OE?0.46
0≤1.21.6
LoF obs/exp: 3 / 2.8Missense obs/exp: 57 / 52.6Syn Z: 1.75

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SMIM8 · 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