Gene
TPM2
tropomyosin 2
- HGNC 12011↗(opens in a new tab)
- Ensembl gene ENSG00000198467↗(opens in a new tab)
- NCBI Gene 7169↗(opens in a new tab)
Summary
- Cytogenetic location
- 9p13.3
- Coordinates
- Chromosome 9: 35,682,932–35,689,925 (GRCh38)
- Exons
- 9 exons across 7 kb
- Protein
- 284 amino acids
- Also known as
- DA1, NEM4
- Previous symbols
- AMCD1
- MANE Select transcript
- ENST00000645482.3NM_003289.4
- Locus type
- Protein-coding
- Very high
- Confident
- Low
- Very low
This page as data
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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.
- 2 GenCC submitters rate it definitive or strong
How TPM2 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
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 1.2 kb of the gene's 7 kb; 855 of those bases code for the protein.
Sequencing TPM2
27
positions in TPM2 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 7 kb of TPM2, introns included, not only the 1.2 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
- TPM3tropomyosin 3Shares 1 condition
Traits linked to TPM2
The Human Phenotype Ontology lists these as features of the rare conditions TPM2 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the musculoskeletal system
- Joint contracture
- Neck muscle weakness
- EMG: myopathic abnormalities
- Joint stiffness
- Low muscle tone
- Muscle tissue disease
- Progressive muscle weakness
- Scoliosis
Show 53 more traits
- Type 1 muscle fiber atrophy
- Abnormal muscle fiber morphology
- Abnormality of the hip bone
- Abnormally shaped skeletal
- Axial muscle weakness
- Central core regions in muscle fibers
- Centrally nucleated skeletal muscle fibers
- Decreased lung function due to weak breathing muscles
- Fatigable weakness of bulbar muscles
- Fatigable weakness of distal limb muscles
- Flexed joint that cannot be straightened
- Generalized muscle wasting
- Increased variability in muscle fiber diameter
- Low muscle tone, in neonatal onset
- Muscle fiber splitting
- Muscle stiffness
- Neck flexion weakness
- Permanent flexion of the finger or toe
- Poor head control
- Proximal neurogenic muscle weakness
- Reduced spine movement
- Tired easily
- Type 1 muscle fiber predominance
- Vertebral segmentation defect
- Weakness of muscles of respiration
- Angulated muscle fibers
- Arthrogryposis multiplex congenita
- Difficulty running
- Difficulty walking up stairs
- Diffuse skeletal muscle wasting
- Excessive inward curvature of lower spine
- Fatigable weakness of respiratory muscles
- Fatiguable weakness of proximal limb muscles
- Fiber type grouping
- Frequent falls
- Funnel chest
- Generalized decreased muscle tone
- Generalized muscle weakness
- Gowers sign
- Kyphoscoliosis
- Lower limb amyotrophy
- Muscle weakness between ribs
- Narrow chest
- Pigeon chest
- Poorly developed skeletal musculature
- Prominent swayback
- Spasticity and rigidity of muscles
- Thoracic kyphosis
- Thoracic scoliosis
- Hunched back
- Decreased hip abduction
- Muscle degeneration
- Stiff shoulders
Abnormality of limbs
- Lower limb muscle weakness
- Aplasia/Hypoplasia of the radius
- Bilateral single transverse palmar creases
- Inward turned thumb
- Overlapping fingers
- Absent distal interphalangeal creases
- Club feet
- Finger bends toward pinky
Show 29 more traits
- Foot drop
- Fused ankle bones
- Limb muscle weakness
- Limb-girdle muscle weakness
- Permanent flexion of the finger
- Rocker bottom foot
- Talipes
- Ulnar deviation of the hand or of fingers of the hand
- Ulnar deviation of the wrist
- Ankle flexion contracture
- Dislocated hip since birth
- Dropped arches
- Elbow flexion contracture
- Flexion contracture of finger
- High-arched foot
- Hip contracture
- Hip dislocation
- Inability to straighten knee
- Knock knees
- Outward bow-leggedness
- Pelvic girdle muscle weakness
- Pes valgus
- Weak shoulder muscles
- Winged shoulder blade
- Foot and ankle bend up toward shin of leg
- Hand clenching
- Joint contracture of the hand
- Overlapping toe
- Single transverse palmar crease
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 2026-10-17: 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 2026.10.17-8666dff2.
Cite this page
Dante Labs. (n.d.). TPM2 gene: tropomyosin 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/tpm2
Dante Labs. TPM2 gene: tropomyosin 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/tpm2
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