Gene
TPM3
tropomyosin 3
- HGNC 12012↗(opens in a new tab)
- Ensembl gene ENSG00000143549↗(opens in a new tab)
- NCBI Gene 7170↗(opens in a new tab)
Summary
- Cytogenetic location
- 1q21.3
- Coordinates
- Chromosome 1: 154,161,813–154,192,100 (GRCh38)
- Exons
- 10 exons across 30.3 kb
- Protein
- 285 amino acids
- Also known as
- TRK
- Previous symbols
- NEM1
- MANE Select transcript
- ENST00000651641.1NM_152263.4
- 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.
- 3 GenCC submitters rate it definitive or strong
How TPM3 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 7.1 kb of the gene's 30.3 kb; 858 of those bases code for the protein.
How a genome test reads TPM3
27
positions in TPM3 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 30.3 kb of TPM3, introns included, not only the 7.1 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
- LMOD3leiomodin 3Shares 1 condition
- MYPNmyopalladinShares 1 condition
- NEBnebulinShares 1 condition
- SELENONselenoprotein NShares 1 condition
- TNNT1troponin T1, slow skeletal typeShares 1 condition
- TPM2tropomyosin 2Shares 1 condition
Traits linked to TPM3
The Human Phenotype Ontology lists these as features of the rare conditions TPM3 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the musculoskeletal system
- EMG: myopathic abnormalities
- Generalized muscle weakness
- Low muscle tone
- Muscle tissue disease
- Progressive muscle weakness
- Severely decreased muscle tone
- Type 1 muscle fiber atrophy
- Abnormal muscle fiber morphology
Show 41 more traits
- Abnormality of the chest
- Abnormally shaped skeletal
- Decreased lung function due to weak breathing muscles
- Fatigable weakness of bulbar muscles
- Flexed joint that cannot be straightened
- Generalized muscle wasting
- Increased variability in muscle fiber diameter
- Multiple fractures present at birth
- Muscle degeneration
- Muscle stiffness
- Poor head control
- Reduced spine movement
- Tired easily
- Type 1 muscle fiber predominance
- Weakness of muscles of respiration
- Difficulty running
- Difficulty walking up stairs
- Diffuse skeletal muscle wasting
- Excessive inward curvature of lower spine
- Fatiguable weakness of proximal limb muscles
- Frequent falls
- Funnel chest
- Generalized decreased muscle tone
- Gowers sign
- Kyphoscoliosis
- Lower limb amyotrophy
- Muscle weakness between ribs
- Narrow chest
- Neck muscle weakness
- Poorly developed skeletal musculature
- Prominent swayback
- Scoliosis
- Thoracic scoliosis
- Arthrogryposis multiplex congenita
- Bulbar palsy
- Centrally nucleated skeletal muscle fibers
- Distal lower limb amyotrophy
- Limb contractures
- Low muscle tone, in neonatal onset
- Proximal neurogenic muscle weakness
- Type 1 fibers relatively smaller than type 2 fibers
Abnormality of head or neck
- Bell's palsy
- Dental crowding
- High palate
- Long face
- Myopathic facies
- Weakness of facial musculature
- Chewing difficulties
- Facial diplegia
Show 4 more traits
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.). TPM3 gene: tropomyosin 3. Retrieved 17 October 2026, from https://dantelabs.com/genes/tpm3
Dante Labs. TPM3 gene: tropomyosin 3 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/tpm3
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