LMOD2 Gene - Leiomodin 2
Cardiac Actin-Binding Protein and Its Role in Dilated Cardiomyopathy
Gene Information Card
| Symbol | LMOD2 |
|---|---|
| Full Name | leiomodin 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 7q31.32 |
| NCBI Gene ID | 442496 ncbi.nlm.nih.gov/gene/442496 |
| Ensembl ID | ENSG00000185052 |
| UniProt ID | Q6P5Q4 |
| OMIM ID | 616117 |
| HGNC ID | 6649 |
| Aliases | C7orf16, FLJ12529, leiomodin-2 |
Description
LMOD2 encodes leiomodin 2, a cardiac-specific actin-binding protein that regulates thin filament length in sarcomeres. It is essential for normal cardiac contractility and sarcomere assembly. Mutations in LMOD2 cause autosomal recessive dilated cardiomyopathy (DCM) with early-onset heart failure.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Dilated Cardiomyopathy 2E (CMD2E) | Loss-of-function mutations in LMOD2 disrupt thin filament length regulation, leading to sarcomere disorganization and impaired cardiac contractility. | OMIM #619897; ClinVar pathogenic variants |
| Cardiomyopathy, dilated, with left ventricular noncompaction | Compound heterozygous LMOD2 variants impair actin filament nucleation, causing myocardial structural defects. | Case reports in ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 125.3 | High |
| Skeletal Muscle | 12.1 | Low |
| Liver | 0.0 | Not detected |
| Brain | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cardiomyocytes (iPSC-derived) | 98.7 | High expression; essential for sarcomere formation |
| HeLa | 0.0 | No detectable expression |
| HEK293 | 0.0 | No detectable expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of translation initiation; pathogenic in DCM |
| c.325C>T (p.Arg109*) | Nonsense | Rare | Premature stop; loss of function |
| c.1048_1049del (p.Lys350Glufs*2) | Frameshift | Rare | Truncated protein; loss of actin-binding domain |
Mutation functional classification
Loss of Function (LOF)
Biallelic loss-of-function mutations (nonsense, frameshift, start loss) cause dilated cardiomyopathy via impaired thin filament assembly.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported; disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • actin binding (GO:0003779) | • protein binding (GO:0005515) |
| • striated muscle thin filament (GO:0005865) | • muscle filament sliding (GO:0030049) |
| • actin filament polymerization (GO:0051015) |
Pathways
• Sarcomere assembly and function (Reactome: R-HSA-390522)
• Striated muscle contraction (Reactome: R-HSA-397014)
Protein Summary
Leiomodin 2 is a 495-amino-acid protein predominantly expressed in cardiac muscle. It contains an N-terminal actin-binding domain and a C-terminal tropomyosin-binding region. LMOD2 nucleates actin polymerization and caps the pointed end of thin filaments, regulating sarcomere length. Loss of function leads to shortened thin filaments and dilated cardiomyopathy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LMOD2 Knockout HEK293 Cell Line | EDJ-KQ9032 | Human | 442721 | Details Get a Quote |
| ELMOD2 Knockout HEK293 Cell Line | EDJ-KQ11803 | Human | 255520 | Details Get a Quote |
| ELMOD2 Knockout A-549 Cell Line | EDJ-KQ40218 | Human | 255520 | Details Get a Quote |
| ELMOD2 Knockout HCT 116 Cell Line | EDJ-KQ40219 | Human | 255520 | Details Get a Quote |
| ELMOD2 Knockout HeLa Cell Line | EDJ-KQ40220 | Human | 255520 | Details Get a Quote |
| LMOD2 Knockout HeLa Cell Line | EDJ-KQ60457 | Human | 442721 | Details Get a Quote |
| LMOD2 Knockout A-549 Cell Line | EDJ-KQ68926 | Human | 442721 | Details Get a Quote |
| LMOD2 Knockout HCT 116 Cell Line | EDJ-KQ77286 | Human | 442721 | Details Get a Quote |
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