NEMP1

Chr 12

nuclear envelope integral membrane protein 1

Also known as: TMEM194, TMEM194A

NCBI Gene: 23306ENSG00000166881UniProt: O14524

Involved in nuclear membrane organization. Predicted to be located in nuclear inner membrane. Predicted to be active in nuclear envelope. [provided by Alliance of Genome Resources, Jul 2025]

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
5
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.36
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
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.36LOEUF
pLI 0.916
Z-score 3.95
OE 0.16 (0.08–0.36)
Highly constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
1.07Z-score
OE missense 0.80 (0.71–0.91)
187 obs / 233.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.16 (0.08–0.36)
0≤0.351.4
Missense OE?0.80 (0.71–0.91)
0≤0.61.4
Synonymous OE?1.02
0≤1.21.6
LoF obs/exp: 4 / 25.6Missense obs/exp: 187 / 233.0Syn Z: -0.15

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

NEMP1 · 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