TMEM201

Chr 1

transmembrane protein 201

Also known as: Ima1, NET5, SAMP1

NCBI Gene: 199953ENSG00000188807UniProt: Q5SNT2

Predicted to enable actin filament binding activity and lamin binding activity. Involved in several processes, including centrosome localization; positive regulation of endothelial cell migration; and protein localization to nuclear envelope. Located in cortical endoplasmic reticulum; nucleus; and spindle pole centrosome. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating 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
3
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.29
LOEUF· LoF intol.
LOF
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.29LOEUF
pLI 0.990
Z-score 4.29
OE 0.11 (0.05–0.29)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?
1.33Z-score
OE missense 0.82 (0.75–0.90)
350 obs / 427.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.11 (0.05–0.29)
0≤0.351.4
Missense OE?0.82 (0.75–0.90)
0≤0.61.4
Synonymous OE?0.97
0≤1.21.6
LoF obs/exp: 3 / 27.1Missense obs/exp: 350 / 427.2Syn Z: 0.32

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TMEM201 · 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