TMEM168

Chr 7

transmembrane protein 168

NCBI Gene: 64418ENSG00000146802UniProt: Q9H0V1

Enables sodium channel regulator activity. Predicted to act upstream of or within regulation of ubiquitin-dependent protein catabolic process and regulation of voltage-gated sodium channel activity. Located in nuclear membrane and transport vesicle. [provided by Alliance of Genome Resources, Apr 2025]

ResearchGenerating clinical summary…

Clinical highlights

Gene-disease validity (ClinGen)
Brugada syndrome · ADDisputedevidence questions this relationship
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.65
LOEUF
—
Mechanism
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?
0.65LOEUF
pLI 0.004
Z-score 2.80
OE 0.36 (0.21–0.65)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.89Z-score
OE missense 0.87 (0.79–0.95)
325 obs / 373.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.36 (0.21–0.65)
0≤0.351.4
Missense OE?0.87 (0.79–0.95)
0≤0.61.4
Synonymous OE?1.09
0≤1.21.6
LoF obs/exp: 8 / 22.2Missense obs/exp: 325 / 373.4Syn Z: -0.81

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TMEM168 · 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