LIMA1

Chr 12

LIM domain and actin binding 1

Also known as: EPLIN, LDLCQ8, SREBP3

NCBI Gene: 51474ENSG00000050405UniProt: Q9UHB6

This gene encodes a cytoskeleton-associated protein that inhibits actin filament depolymerization and cross-links filaments in bundles. It is downregulated in some cancer cell lines. Alternatively spliced transcript variants encoding different isoforms have been described for this gene, and expression of some of the variants maybe independently regulated. [provided by RefSeq, Aug 2011]

ResearchGenerating clinical summary…
0
Active trials
25
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.85
LOEUF
DN
Mechanism· predicted
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?
0.85LOEUF
pLI 0.000
Z-score 2.24
OE 0.59 (0.42–0.85)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.51Z-score
OE missense 0.79 (0.72–0.86)
316 obs / 401.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.59 (0.42–0.85)
0≤0.351.4
Missense OE?0.79 (0.72–0.86)
0≤0.61.4
Synonymous OE?1.03
0≤1.21.6
LoF obs/exp: 21 / 35.4Missense obs/exp: 316 / 401.2Syn Z: -0.30

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

LIMA1 · 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