Gene
LMOD3
leiomodin 3
- HGNC 6649↗(opens in a new tab)
- Ensembl gene ENSG00000163380↗(opens in a new tab)
- NCBI Gene 56203↗(opens in a new tab)
Summary
- Cytogenetic location
- 3p14.1
- Coordinates
- Chromosome 3: 69,106,065–69,122,595 (GRCh38)
- Exons
- 3 exons across 16.5 kb
- Protein
- 560 amino acids
- MANE Select transcript
- ENST00000420581.7NM_198271.5
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Congenital Myopathies
- Nemaline myopathy
A congenital myopathy defined by rod-shaped structures in muscle fibers, most often caused by NEB or ACTA1 variants.
- ClinGen rates the link definitive
- 4 GenCC submitters rate it definitive or strong
How LMOD3 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 4.9 kb of the gene's 16.5 kb; 1,683 of those bases code for the protein.
How a genome test reads LMOD3
41
positions in LMOD3 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 16.5 kb of LMOD3, introns included, not only the 4.9 kb of exons.
Genes linked to the same conditions
- ACTA1actin alpha 1, skeletal muscleShares 1 condition
- CFL2cofilin 2Shares 1 condition
- KBTBD13kelch repeat and BTB domain containing 13Shares 1 condition
- KLHL40kelch like family member 40Shares 1 condition
- KLHL41kelch like family member 41Shares 1 condition
- MYPNmyopalladinShares 1 condition
- NEBnebulinShares 1 condition
- SELENONselenoprotein NShares 1 condition
- TNNT1troponin T1, slow skeletal typeShares 1 condition
- TPM2tropomyosin 2Shares 1 condition
- TPM3tropomyosin 3Shares 1 condition
Traits linked to LMOD3
The Human Phenotype Ontology lists these as features of the rare conditions LMOD3 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the musculoskeletal system
- Bulbar palsy
- Decreased lung function due to weak breathing muscles
- Fatty replacement of skeletal muscle
- Generalized decreased muscle tone
- Generalized muscle weakness
- Muscle weakness
- Severely decreased muscle tone
- Abnormality of the chest
Show 23 more traits
- Axial muscle weakness
- Fatigable weakness of distal limb muscles
- Flexed joint that cannot be straightened
- Increased connective tissue
- Increased variability in muscle fiber diameter
- Low muscle tone, in neonatal onset
- Multiple fractures present at birth
- Muscle degeneration
- Neck flexion weakness
- Type 1 muscle fiber predominance
- Abnormality of the diaphragm
- Arthrogryposis multiplex congenita
- Congenital contracture
- Fatigable weakness of respiratory muscles
- Fatiguable weakness of proximal limb muscles
- Funnel chest
- Muscle tissue disease
- Narrow chest
- Prominent swayback
- Reduced spine movement
- Scoliosis
- Thin ribs
- Hunched back
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). LMOD3 gene: leiomodin 3. Retrieved 17 October 2026, from https://dantelabs.com/genes/lmod3
Dante Labs. LMOD3 gene: leiomodin 3 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/lmod3
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