LSM2

Chr 6

LSM2 homolog, U6 small nuclear RNA and mRNA degradation associated

ENSG00000204392UniProt: Q9Y333

Plays a role in pre-mRNA splicing as component of the U4/U6-U5 tri-snRNP complex that is involved in spliceosome assembly, and as component of the precatalytic spliceosome (spliceosome B complex) (PubMed:28781166). The heptameric LSM2-8 complex binds specifically to the 3'-terminal U-tract of U6 snRNA (PubMed:10523320)

ResearchGenerating clinical summary…
0
Active trials
16
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.74
LOEUF
—
Mechanism
Some data sources returned errors (2)

ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

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?
1.74LOEUF
pLI 0.000
Z-score 0.02
OE 0.99 (0.56–1.74)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
1.83Z-score
OE missense 0.28 (0.18–0.43)
14 obs / 50.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.99 (0.56–1.74)
0≤0.351.4
Missense OE?0.28 (0.18–0.43)
0≤0.61.4
Synonymous OE?0.78
0≤1.21.6
LoF obs/exp: 7 / 7.1Missense obs/exp: 14 / 50.5Syn Z: 0.81

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

LSM2 · 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