TMEM151A
Chr 11transmembrane protein 151A
Also known as: DYT36, EKD3, TMEM151
Located in endoplasmic reticulum and membrane. Implicated in episodic kinesigenic dyskinesia 3. [provided by Alliance of Genome Resources, Jul 2025]
ResearchGenerating clinical summary…
Primary Disease Associations & Inheritance
UniProtEpisodic kinesigenic dyskinesia 3
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.94LOEUF
pLI 0.003
Z-score 1.71
OE 0.48 (0.26–0.94)
Typical tolerance to LoF variation
Missense Constraint?
2.66Z-score
OE missense 0.57 (0.51–0.65)
179 obs / 311.3 exp
Moderately missense-constrained (top ~2.5%)
Observed / Expected Ratios?
LoF OE?0.48 (0.26–0.94)
0≤0.351.4
Missense OE?0.57 (0.51–0.65)
0≤0.61.4
Synonymous OE?0.72
0≤1.21.6
LoF obs/exp: 6 / 12.6Missense obs/exp: 179 / 311.3Syn Z: 2.77
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
TMEM151A · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools