LMOD2

Chr 7AR

leiomodin 2

Also known as: C-LMOD, CLMOD, CMD2G

NCBI Gene: 442721ENSG00000170807UniProt: Q6P5Q4OMIM: 608006

Enables actin monomer binding activity and tropomyosin binding activity. Involved in actin nucleation; positive regulation of actin filament polymerization; and sarcomere organization. Located in M band and actin filament. Implicated in dilated cardiomyopathy 2G. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Cardiomyopathy, dilated, 2GMIM #619897
AR

Clinical highlights

Gene-disease validity (ClinGen)
cardiomyopathy, dilated, 2G · ARDefinitivesufficient evidence for diagnostic panels
0
Active trials
11
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.86
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.86LOEUF
pLI 0.001
Z-score 2.00
OE 0.48 (0.28–0.86)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.27Z-score
OE missense 0.96 (0.87–1.05)
282 obs / 295.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.48 (0.28–0.86)
0≤0.351.4
Missense OE?0.96 (0.87–1.05)
0≤0.61.4
Synonymous OE?0.99
0≤1.21.6
LoF obs/exp: 8 / 16.8Missense obs/exp: 282 / 295.1Syn Z: 0.12

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

LMOD2 · 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