POM121L2

Chr 6

POM121 transmembrane nucleoporin like 2

Also known as: POM121-L, POM121L

NCBI Gene: 94026ENSG00000158553UniProt: Q96KW2

Predicted to enable nuclear localization sequence binding activity. Predicted to be a structural constituent of nuclear pore. Predicted to be involved in RNA export from nucleus and protein import into nucleus. Predicted to be part of nuclear pore. [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
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.85
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
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.85LOEUF
pLI 0.327
Z-score 0.61
OE 0.00 (0.00–1.85)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
2.16Z-score
OE missense 0.74 (0.68–0.80)
396 obs / 536.8 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.00 (0.00–1.85)
0≤0.351.4
Missense OE?0.74 (0.68–0.80)
0≤0.61.4
Synonymous OE?0.69
0≤1.21.6
LoF obs/exp: 0 / 0.4Missense obs/exp: 396 / 536.8Syn Z: 3.50

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

POM121L2 · 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