Gen
TPM2
tropomyosin 2
- HGNC 12011↗(åbnes i en ny fane)
- Ensembl-gen ENSG00000198467↗(åbnes i en ny fane)
- NCBI Gene 7169↗(åbnes i en ny fane)
Oversigt
- Cytogenetisk placering
- 9p13.3
- Koordinater
- Kromosom 9: 35.682.932–35.689.925 (GRCh38)
- Exoner
- 9 exoner fordelt over 7 kb
- Protein
- 284 aminosyrer
- Også kendt som
- DA1, NEM4
- Tidligere symboler
- AMCD1
- MANE Select-transkript
- ENST00000645482.3NM_003289.4
- Lokustype
- gene with protein product
- Meget høj
- Sikker
- Lav
- Meget lav
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Bestil min Genome TestKurateret rapport relevant for dette gen
Medfødte myopatier
- Nemalin myopati
En medfødt myopati, der kendetegnes ved stavformede strukturer i muskelfibrene, oftest forårsaget af varianter i NEB eller ACTA1.
- 2 GenCC-indsendere vurderer den som definitiv eller stærk
Sådan er TPM2 opbygget
- Kodende sekvens
- Utranslateret region
- Intron
- Transkriptionsretning
- Kendte sygdomsfremkaldende steder
Eksoner i genets MANE Select-transkript (udgave v1.5), fra NCBI og EMBL-EBI, på referencegenomet GRCh38.
Kromosombånd fra UCSC's GRCh38-ideogram (2022-10-29).
Gener i nærheden fra Ensembl-udgivelse 116, på GRCh38.
Eksoner udgør 1,2 kb af genets 7 kb; 855 af disse baser koder for proteinet.
Sådan læser en genomtest TPM2
27
positioner i TPM2, hvor ClinVar klassificerer en ændring som patogen eller sandsynligvis patogen
Ingen af dem ligger i en region, som korte læsninger har svært ved.
En helgenomsanalyse dækker alle 7 kb af TPM2, inklusive introner, og ikke kun de 1,2 kb eksoner.
Gener knyttet til de samme sygdomme
- ACTA1actin alpha 1, skeletal muscleDeler 1 sygdom
- CFL2cofilin 2Deler 1 sygdom
- KBTBD13kelch repeat and BTB domain containing 13Deler 1 sygdom
- KLHL40kelch like family member 40Deler 1 sygdom
- KLHL41kelch like family member 41Deler 1 sygdom
- LMOD3leiomodin 3Deler 1 sygdom
- MYPNmyopalladinDeler 1 sygdom
- NEBnebulinDeler 1 sygdom
- SELENONselenoprotein NDeler 1 sygdom
- TNNT1troponin T1, slow skeletal typeDeler 1 sygdom
- TPM3tropomyosin 3Deler 1 sygdom
Træk knyttet til TPM2
Human Phenotype Ontology angiver disse som kendetegn ved de sjældne tilstande, TPM2 kan forårsage. Hvert træks side viser de andre gener, der er knyttet til det.
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
Vis 53 træk mere
- 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
Vis 29 træk mere
- 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
Eksterne links
Genposter
Transkript
Protein
Hvor oplysningerne kommer fra
- HGNC: genets symbol, navn, andre symboler og placering.
- MANE Select v1.5, fra NCBI og EMBL-EBI: transkriptet, dets exoner og kodende sekvens.
- GenCC og ClinGen, udgivet 2026-10-16: hvilke sygdomme genet er knyttet til, og hvor stærkt.
- ACMG-listen over sekundære fund, SF v3.2.
- ClinVar og GIAB-stratifikationerne: kendte sygdomsfremkaldende positioner og de regioner, som korte læsninger har svært ved at aflæse.
- Human Phenotype Ontology, version 2026-09-01: de træk, der er knyttet til genet. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
Citér denne side
Dante Labs. (u.d.). TPM2-genet: tropomyosin 2. Hentet 17. oktober 2026, fra https://dantelabs.com/da/genes/tpm2
Dante Labs. TPM2-genet: tropomyosin 2 [Internet]. [citeret 17. oktober 2026]. Tilgængelig fra: https://dantelabs.com/da/genes/tpm2
Én test. Svar for hele livet.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger