LMOD2

Chr 7AR

leiomodin 2

Also known as: C-LMOD, CLMOD, CMD2G

The LMOD2 protein mediates nucleation of actin filaments and promotes actin polymerization, and is required for normal sarcomere organization and heart function. Mutations cause autosomal recessive dilated cardiomyopathy 2G, a form of heart muscle disease where the heart becomes enlarged and weakened. The gene shows tolerance to loss-of-function variants in the general population (pLI 0.0006), consistent with its recessive inheritance pattern.

OMIMResearchSummary from RefSeq, OMIM, UniProt
MultiplemechanismARLOEUF 0.861 OMIM phenotype
Clinical SummaryLMOD2
🧬
Gene-Disease Validity (ClinGen)
cardiomyopathy, dilated, 2G · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
0.86LOEUF
pLI 0.001
Z-score 2.00
OE 0.48 (0.280.86)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
0.27Z-score
OE missense 0.96 (0.871.05)
282 obs / 295.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.48 (0.280.86)
00.351.4
Missense OE0.96 (0.871.05)
00.61.4
Synonymous OE0.99
01.21.6
LoF obs/exp: 8 / 16.8Missense obs/exp: 282 / 295.1Syn Z: 0.12
Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗
definitiveLMOD2-related infantile dilated cardiomyopathyOTHERAR

Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.

DN
0.7132th %ile
GOF
0.6639th %ile
LOF
0.3259th %ile

The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

0 submitted variants in 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.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC