TMEM33

Chr 4

transmembrane protein 33

Also known as: 1600019D15Rik, Pom33, SHINC-3, SHINC3

NCBI Gene: 55161ENSG00000109133UniProt: P57088OMIM: 618515

Involved in positive regulation of endoplasmic reticulum unfolded protein response; regulation of endoplasmic reticulum tubular network organization; and response to endoplasmic reticulum stress. Located in endoplasmic reticulum membrane; melanosome; and nuclear envelope. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…
0
Active trials
5
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.84
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.84LOEUF
pLI 0.005
Z-score 1.99
OE 0.43 (0.23–0.84)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.79Z-score
OE missense 0.81 (0.69–0.95)
107 obs / 132.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.43 (0.23–0.84)
0≤0.351.4
Missense OE?0.81 (0.69–0.95)
0≤0.61.4
Synonymous OE?0.99
0≤1.21.6
LoF obs/exp: 6 / 14.1Missense obs/exp: 107 / 132.5Syn Z: 0.04

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TMEM33 · 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