TMEM184C

Chr 4

transmembrane protein 184C

Also known as: SLC51C3, TMEM34

NCBI Gene: 55751ENSG00000164168UniProt: Q9NVA4OMIM: 613937

Predicted to enable transmembrane transporter activity. Predicted to be involved in transmembrane transport. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.52
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.52LOEUF
pLI 0.069
Z-score 3.39
OE 0.28 (0.15–0.52)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
2.57Z-score
OE missense 0.52 (0.45–0.61)
121 obs / 231.1 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.28 (0.15–0.52)
0≤0.351.4
Missense OE?0.52 (0.45–0.61)
0≤0.61.4
Synonymous OE?0.75
0≤1.21.6
LoF obs/exp: 7 / 25.4Missense obs/exp: 121 / 231.1Syn Z: 1.84

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TMEM184C · 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