LEMD2

Chr 6ARAD

LEM domain nuclear envelope protein 2

Also known as: CTRCT42, LEM2, MARUPS, NET25, dJ482C21.1

NCBI Gene: 221496ENSG00000161904UniProt: Q8NC56OMIM: 616312

This gene encodes a LEM domain-containing transmembrane protein of the inner nuclear membrane. The protein is involved in nuclear structure organization and plays a role in cell signaling and differentiation. Mutations in this gene result in Cataract 46, juvenile-onset. Multiple transcript variants have been found for this gene. [provided by RefSeq, Feb 2017]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Cataract 46, juvenile-onsetMIM #212500
AR
Marbach-Rustad progeroid syndromeMIM #619322
AD

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.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
9
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.41
LOEUF
—
Mechanism
📖
GeneReview available — LEMD2
Authoritative clinical overview · Recommended first read
Open GeneReview ↗

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.41LOEUF
pLI 0.753
Z-score 3.58
OE 0.18 (0.09–0.41)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
1.82Z-score
OE missense 0.67 (0.58–0.76)
157 obs / 235.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.18 (0.09–0.41)
0≤0.351.4
Missense OE?0.67 (0.58–0.76)
0≤0.61.4
Synonymous OE?0.90
0≤1.21.6
LoF obs/exp: 4 / 22.2Missense obs/exp: 157 / 235.4Syn Z: 0.81

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

LEMD2 · 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