LMOD2

Chr 7q31.32

leiomodin 2

Aliases:: C-Lmod
MANE:: ENST00000458573.3

OMIM: 608006 ↗NCBI: 442721 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

LMOD2 · Q6P5Q4

v62025-08-01

Predicted Aligned Error matrix for LMOD2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

66.9/ 100

Low

547 residues

Confidence breakdown

Very high(≥ 90)32%
Confident(70–90)20%
Low(50–70)14%
Very low(< 50)34%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

cardiomyopathy, dilated, 2G
0.70
familial isolated dilated cardiomyopathy
0.46
dilated cardiomyopathy
0.39
hereditary disease
0.19
polycystic ovary syndrome
0.14
hypertrophic cardiomyopathy
0.08
Rare familial disorder with hypertrophic cardiomyopathy
0.08
left ventricular noncompaction
0.08
Arrhythmogenic right ventricular dysplasia
0.08
glycogen storage disease due to muscle and heart glycogen synthase deficiency
0.07

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Leiomodin-2

Mediates nucleation of actin filaments and thereby promotes actin polymerization (PubMed:18403713, PubMed:25250574, PubMed:26370058, PubMed:26417072). Plays a role in the regulation of actin filament length (By similarity). Required for normal sarcomere organization in the heart, and for normal heart function (PubMed:18403713)