TPM2 - tropomyosin 2 Gene

Also Known as DA1; DA2B; NEM4; TMSB; AMCD1; DA2B4; HEL-S-273

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 7169

About TPM2

Cytogenetic location: 9p13.3 Genomic coordinates (GRCh38): 9:35,681,993-35,690,056 (from NCBI)

This gene has 10 transcripts (splice variants), 199 orthologues, 3 paralogues and is associated with 10 phenotypes. Broad expression in prostate (RPKM 355.8), endometrium (RPKM 279.3) and 16 other tissues.

Summary

This gene encodes beta-tropomyosin, a member of the actin filament binding protein family, and mainly expressed in slow, type 1 muscle fibers. Mutations in this gene can alter the expression of Other sarcomeric tropomyosin proteins, and cause cap disease, nemaline myopathy and distal arthrogryposis syndromes. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2009]

TPM2 Products (4)

mRNA Protein Name
NM_001301226.2 NP_001288155.1 tropomyosin beta chain isoform Tpm2.3
NM_001301227.2 NP_001288156.1 tropomyosin beta chain isoform Tpm2.4
NM_003289.4 NP_003280.2 tropomyosin beta chain isoform Tpm2.2st
NM_213674.1 NP_998839.1 tropomyosin beta chain isoform Tpm2.1sm/cy
Molecular Function GO Annotation Evidence Références Source
enables actin binding IDA
IDA: Inferred from direct assay
17194691 GOA
enables identical protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
30021884 GOA
Biological Process GO Annotation Evidence Références Source
involved in regulation of ATP-dependent activity IDA
IDA: Inferred from direct assay
17194691 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TPM2 Protein Structure

Tropomyosin

Tropomyosin: Tropomyosin (48 - 283)

  • 0
  • 100
  • 200
  • 284 a.a.
Protein Preferred Names Protein Names

tropomyosin beta chain

  • epididymis secretory protein Li 273

TPM2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Références
Intra
TPM2 P07951 TPM1 Homo sapiens P09493 30021884
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant TPM2 Proteins

Cat. No. Nom du produit Accession Pureté
HY-P72264 TPM2 Protein, Human (His) P07951 (D14-L284) ≥ 90%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases Alias
Arthrogryposis, Distal, Type 1a
  • Distal Arthrogryposis Type 1

  • Digitotalar Dysmorphism

  • DA1A

  • Da1

  • Amcd1

  • Arthrogryposis, Distal, Type 2b4

  • Distal Arthrogryposis Type 1a

  • Arthrogryposis, Distal, Type 1

  • Arthrogryposis Multiplex Congenita Distal Type 1

  • Arthrogryposis Multiplex Congenita, Distal Type 1

  • Arthrogryposis Multiplex Congenita, Distal, Type I

  • Distal Arthrogryposis Type 1b

  • Arthrogryposis, Distal, 1a

  • Amc

  • Arthrogryposis Multiplex Congenita

  • Arthrogryposis, Distal, 2b4

  • DA2B4

  • Arthrogryposis Multiplex Congenita, Distal, Type 1

  • Arthrogryposis

Nemaline Myopathy 4
  • Cap Myopathy 2

  • NEM4

  • Nemaline Myopathy 4, Autosomal Dominant

  • Nemaline Myopathy, Type 4

  • CAPM2

  • Cap Disease

  • Cap Myopathy Tpm2-Related

  • Tpm2-Related Nemaline Myopathy

  • Tpm2-Related Cap Myopathy

  • Myopathy, Nemaline, Type 4

  • Cap Myopathy

Cap Myopathy
  • Cap Disease

  • Congenital Myopathy With Caps

Arthrogryposis, Distal, Type 2b1
  • Sheldon-Hall Syndrome

  • Freeman-Sheldon Syndrome Variant

  • Distal Arthrogryposis Type 2b1

  • DA2B1

  • Arthrogryposis Multiplex Congenita, Distal, Type 2b

  • Shs

  • Distal Arthrogryposis Type 2b

  • Fssv

  • Arthrogryposis Multiplex Congenita Distal Type 2b

  • Arthrogryposis Multiplex Congenita Distal Type Ii With Craniofacial Abnormalities

  • Da2b

  • Arthrogryposis Multiplex Congenita, Distal, Type Ii, With Craniofacial Abnormalities

  • Distal Arthrogryposis Type Iib

  • Freeman Sheldon Syndrome, Variant

  • Freeman Sheldon Variant

  • Arthrogryposis, Distal, 2b1

  • Amcd2b

Congenital Fiber-Type Disproportion
  • Congenital Fiber Type Disproportion

  • Cftdm

  • Congenital Myopathy With Fiber Type Disproportion

  • Cftd

  • Congenital Fiber-Type Disproportion Myopathy

  • Fiber-Type Disproportion Myopathy, Congenital

  • Myopathy, Congenital With Fiber-Type Disproportion

Childhood-Onset Nemaline Myopathy
  • Mild Nemaline Myopathy

  • Nemaline Myopathy, Childhood Onset

Typical Congenital Nemaline Myopathy
  • Typical Nemaline Myopathy

Nemaline Myopathy
  • Rod Myopathy

  • Nemaline Body Disease

  • Nemaline Rod Myopathy

  • Myopathies, Nemaline

  • Nm

  • Nemaline Rod Disease

  • Rod Body Disease

  • Rod-Body Myopathy

  • Myopathy, Nemaline

  • Congenital Rod Disease

  • Nem

  • Nemaline Bodies

  • Myopathies Nemaline

Distal Arthrogryposis
  • Arthrogryposis Multiplex Congenita

  • Arthrogryposis

  • Congenital Multiple Arthrogryposis

  • Congenital Arthromyodysplasia

  • Fibrous Ankylosis Of Multiple Joints

  • Guerin-Stern Syndrome

  • Guérin-Stern Syndrome

  • Myodystrophia Fetalis Deformans

  • Otto Syndrome

  • Rocher-Sheldon Syndrome

  • Rossi Syndrome

  • Amc

  • Multiple Congenital Arthrogryposis

  • Arthrogryposis Syndrome

  • Arthrogryposis, Distal

  • Distal Arthrogryposis Syndrome

  • Freeman-Sheldon Syndrome

  • Arthrogryposis, Distal, Type 2b

  • Congenital Multiplex Arthrogryposis

  • Amyoplasia Congenita

  • Congenital Amyoplasia

  • Amc - [Arthrogryposis Multiplex Congenita]

Myopathy
  • Muscular Diseases

  • Myopathies

Arthrogryposis, Distal, Type 5
  • Oculomelic Amyoplasia

  • Distal Arthrogryposis Type 5

  • Distal Arthrogryposis Type Iib

  • DA5

  • Arthrogryposis With Oculomotor Limitation And Electroretinal Abnormalities

  • Daiib

  • Distal Arthrogryposis Type 2b

  • Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome

  • Distal Arthrogryposis With Ophthalmoplegia

  • Arthrogryposis- Oculomotor Limitation-Electroretinal Anomalies Syndrome

  • Arthrogryposis, Distal, Type Iib

  • Da2b

  • Freeman-Sheldon Syndrome Variant

  • Sheldon-Hall Syndrome

  • Arthogryposis With Oculomotor Limitation And Electroretinal Abnormalities

  • Arthrogryposis Ophthalmoplegia Retinopathy

  • Arthrogryposis, Distal, 5

  • Arthrogryposis, Distal, Type 2b

Arthrogryposis, Distal, Type 2a
  • Freeman-Sheldon Syndrome

  • Craniocarpotarsal Dystrophy

  • Craniocarpotarsal Dysplasia

  • DA2A

  • Whistling Face-Windmill Vane Hand Syndrome

  • Fss

  • Distal Arthrogryposis Type 2a

  • Whistling Face Syndrome

  • Freeman-Burian Syndrome

  • Arthrogryposis Distal Type 2a

  • Distal Arthrogryposis, Type 2a

  • Fbs

  • Arthrogryposis, Distal, 2a

Clubfoot
  • Congenital Talipes Equinovarus

  • Congenital Clubfoot

  • Congenital Equinovarus

  • Equinovarus Deformity Of Foot

  • Club Foot

Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
  • Jacobs Syndrome

  • Arthropathy-Camptodactyly Syndrome

  • Pericarditis-Arthropathy-Camptodactyly Syndrome

  • Xyy Syndrome

  • Pac Syndrome

  • Cacp Syndrome

  • CACP

  • Fibrosing Serositis, Familial

  • Camptodactyly-Arthropathy-Pericarditis Syndrome

  • Cap Syndrome

  • 47, Xyy Syndrome

  • 47,Xyy Syndrome

  • Double Y Syndrome

  • Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome

  • Hypertrophic Synovitis, Congenital Familial

  • Congenital Familial Hypertrophic Synovitis

  • Xyy Karyotype

  • Y Disomy

  • Yy Syndrome

  • Familial Fibrosing Serositis

  • Disomy Y

  • Double Y

  • Camptodactyly Arthropathy Coxa Vara Pericarditis Syndrome

  • Arthropathy Camptodactyly Syndrome

  • Camptodactyly Arthropathy Pericarditis Syndrome

  • Pericarditis Arthropathy Camptodactyly Syndrome

  • Jacob'S Syndrome

  • 47,Xyy

  • Cdags Syndrome

Multiple Pterygium Syndrome, Escobar Variant
  • Multiple Pterygium Syndrome

  • Pterygium

  • Escobar Syndrome

  • EVMPS

  • Pterygium Syndrome

  • Autosomal Recessive Multiple Pterygium Syndrome

  • Pterygium Colli Syndrome

  • Pterygium Universale

  • Autosomal Recessive Non-Lethal Multiple Pterygium Syndrome

  • Escobar Variant Multiple Pterygium Syndrome

  • Multiple Pterygium Syndrome, Nonlethal Type

  • Surfer'S Eye

  • Multiple Pterygium Syndrome Escobar Type

  • Multiple Pterygium Syndrome Nonlethal Type

  • Familial Pterygium Syndrome

  • Pterygium Colli

  • Multiple Pterygium Syndrome, Non-Lethal Type

  • Nonlethal Type Multiple Pterygium Syndrome

  • Pterygium Syndrome, Multiple, Escobar Type

  • Pterygium Of Eye

  • Web Eye

Congenital Structural Myopathy
Arthrogryposis, Distal, Type 7
  • Hecht Syndrome

  • Trismus-Pseudocamptodactyly Syndrome

  • Distal Arthrogryposis Type 7

  • Dutch-Kentucky Syndrome

  • DA7

  • Hecht-Beals Syndrome

  • Mouth, Inability To Open Completely, And Short Finger-Flexor Tendons

  • Mouth, Inability To Completely Open, And Short Finger-Flexor Tendons

  • Arthrogryposis Distal Type 7

  • Trismus Pseudocamptodactyly Syndrome

  • Arthrogryposis, Distal, 7

Arthrogryposis, Distal, Type 5d
  • Distal Arthrogryposis Type 5d

  • DA5D

  • Distal Arthrogryposis Type 5 Without Ophthalmoparesis

  • Distal Arthrogryposis Type 5 Without Ophthalmoplegia

  • Arthrogryposis, Distal, 5d

Myopathy, Distal, 3
  • MPD3

  • Distal Muscular Dystrophy 3

  • Distal Myopathy Type 3

  • Myopathy, Distal 3

  • Distal Myopathy 3

  • Finnish Upper Limb-Onset Distal Myopathy

Arthrogryposis, Distal, Type 10
  • DA10

  • Distal Arthrogryposis Type 10

  • Short Achilles Tendon

  • Plantar Flexion Contracture

  • Short Tendo Calcaneus

  • Congenital Plantar Contractures

  • Tendo Calcaneus, Short

Nemaline Myopathy 5
  • Amish Nemaline Myopathy

  • NEM5

  • Anm

  • Nemaline Myopathy, Amish Type

  • Nemaline Myopathy 5, Amish Type

  • Nemaline Myopathy, Caused By Mutation In The Troponin T1 Gene

  • Nemaline Myopathy, Type 5

  • Nemaline Myopathy Amish Type

  • Tnnt1-Related Nemaline Myopathy

  • Myopathy, Nemaline, Type 5

Fissured Tongue
  • Furrowed Tongue

  • Plicated Tongue

  • Tongue, Fissured

  • Congenital Fissure Of Tongue

  • Congenital Plicated Tongue

  • Fissure Of Tongue

  • Fissure Of Tongue, Congenital

  • Geographic Tongue And Fissured Tongue

  • Lingua Plicata

  • Scrotal Tongue

Arthrogryposis, Distal, Type 2b3
  • DA2B3

  • Distal Arthrogryposis Type 2b3

  • Arthrogryposis, Distal, 2b3

Batten-Turner Congenital Myopathy
  • Congenital Myopathy

  • Batten Turner Congenital Myopathy

  • Myopathy Congenital

  • Myopathy, Congenital

  • Myotonia Congenita

  • Benign Congenital Myopathy

Lethal Congenital Contracture Syndrome 4
  • LCCS4

  • Contracture Syndrome, Lethal, Congenital, Type 4

Hyaline Body Myopathy
  • Myosin Storage Myopathy

  • Autosomal Dominant Hyaline Body Myopathy

  • Myopathy, Myosin Storage

Multiminicore Disease
  • Multiminicore Myopathy

  • Mmd

  • Minicore Disease

  • Minicore Myopathy

  • Multi-Core Congenital Myopathy

  • Multi-Core Disease

  • Multi-Minicore Disease

  • Multicore Disease

  • Multicore Myopathy

  • Minicore Myopathy With External Ophthalmoplegia

Spondylocarpotarsal Synostosis Syndrome
  • SCT

  • Spondylocarpotarsal Syndrome

  • Vertebral Fusion With Carpal Coalition

  • Congenital Scoliosis With Unilateral Unsegmented Bar

  • Congenital Synspondylism

  • Spondylocarpotarsal Synostosis

  • Synspondylism, Congenital

  • Scoliosis, Congenital, With Unilateral Unsegmented Bar

  • Scoliosis, Congenital With Unilateral Unsegmented Bar

  • Synspondylism Congenital

  • Sct Syndrome

  • Synspondylism

Myopathy, Distal, 1
  • Laing Distal Myopathy

  • Laing Early-Onset Distal Myopathy

  • MPD1

  • Distal Myopathy 1

  • Myopathy, Distal, Early-Onset, Autosomal Dominant

  • Distal Myopathy Type 1

  • Gowers Disease

  • Myopathy, Late Distal Hereditary

  • Myopathy Distal, Type 1

  • Myopathy Distal Early-Onset Autosomal Dominant

  • Myopathy Late Distal Hereditary

  • Myopathy, Distal, Type 1

  • Welander Distal Myopathy

Centronuclear Myopathy
  • Myopathy, Centronuclear

  • Myotubular Myopathy

  • Cnm

  • Myopathy, Myotubular

  • Congenital Structural Myopathy

Breast Cancer
  • Breast Carcinoma

  • Male Breast Cancer

  • Breast Cancer, Familial

  • Malignant Neoplasm Of Breast

  • Breast Cancer, Susceptibility To

  • Breast Cancer, Early-Onset

  • Malignant Tumor Of Breast

  • Carcinoma Of Male Breast

  • Breast Cancer, Invasive Ductal

  • Breast Cancer, Protection Against

  • Breast Cancer, Somatic

  • Breast Cancer, Male

  • Breast Cancer, Lobular, Somatic

  • Breast Tumor

  • Mammary Cancer

  • Mammary Tumor

  • Malignant Neoplasm Of Male Breast

  • Mammary Carcinoma

  • Male Breast Carcinoma

  • Familial Cancer Of Breast

  • Invasive Ductal Breast Carcinoma

  • Breast Cancer Susceptibility

  • Breast Cancer, Male, Susceptibility To

  • Breast Cancer, Early-Onset, Susceptibility To

  • Malignant Tumor Of The Breast

  • Mammary Neoplasm

  • Primary Breast Cancer

  • Neoplasm Of Male Breast

  • Carcinoma Of Breast

  • Breast Cancer In Men

  • Familial Breast Cancer

  • Cancer Of Breast

  • BC

  • Breast Cancer Familial

  • Breast Cancer Familial Male

  • Breast Cancer, Familial Male

  • Breast Male Carcinoma

  • Breast Neoplasms

  • Breast Neoplasms, Male

  • Mammary Tumors

  • Mammary Carcinomas

  • Cancer, Breast

  • Cancer, Breast, Susceptibility

  • Invasive Breast Ductal Carcinoma

  • Breast Neoplasm

  • Susceptibility To Breast Cancer

  • Mammary Neoplasms

  • Animal Mammary Neoplasms

  • Primary Malignant Neoplasm Of Breast

  • Infiltrating Ductal Carcinoma Of Breast

  • Infiltrating Duct Carcinoma Of Unspecified Site

  • Infiltrating Ductular Carcinoma Of Unspecified Site

  • Invasive Breast Carcinoma Of No Special Type

  • Microinvasive Carcinoma Of Breast

  • Carcinoma With Apocrine Differentiation

Congenital Myasthenic Syndrome
  • Congenital Myasthenia

  • Congenital Myasthenic Syndromes

  • Cms

  • Myasthenic Syndromes, Congenital

  • Myasthenic Syndromes Congenital

  • Myasthenic Syndrome, Congenital

  • Congenital Myasthenic Syndrome Ib

  • Congenital And Developmental Myasthenia

  • Developmental Myasthenia

Amyotrophic Lateral Sclerosis 1
  • Amyotrophic Lateral Sclerosis

  • ALS

  • Lou Gehrig Disease

  • Amyotrophic Lateral Sclerosis Type 1

  • Charcot Disease

  • ALS1

  • Amyotrophic Lateral Sclerosis, Susceptibility To

  • Fals

  • Lou Gehrig'S Disease

  • Mnd

  • Motor Neuron Disease

  • Familial Amyotrophic Lateral Sclerosis

  • Amyotrophic Lateral Sclerosis 1, Familial

  • Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

  • Motor Neuron Disease, Bulbar

  • Motor Neurone Disease

  • Amyotrophic Lateral Sclerosis With Dementia

  • Dementia With Amyotrophic Lateral Sclerosis

  • Motor Neuron Disease, Amyotrophic Lateral Sclerosis

  • Sclerosis, Lateral, Amyotrophic

  • Sclerosis, Lateral, Amyotrophic, Type 1

  • Amyotrophic Sclerosis

  • Als - [Amyotrophic Lateral Sclerosis]

  • Wasting Palsy

  • Amyotrophic Paralysis

  • Amyotrophy Lateral Sclerosis

  • Wasting Paralysis

  • Spinal Progressive Amyotrophy

  • Progressive Atrophic Paralysis

Cardiomyopathy, Familial Hypertrophic, 1
  • Asymmetric Septal Hypertrophy

  • Familial Hypertrophic Cardiomyopathy

  • Hypertrophic Cardiomyopathy 1

  • CMH1

  • Hypertrophic Cardiomyopathy 19

  • CMH

  • Ventricular Hypertrophy, Hereditary

  • Ash

  • Hypertrophic Subaortic Stenosis, Idiopathic

  • Cardiomyopathy, Familial Hypertrophic

  • Cardiomyopathy, Hypertrophic, 1, Digenic

  • Cardiomyopathy, Familial Hypertrophic 1

  • Hcm

  • Hereditary Ventricular Hypertrophy

  • Idiopathic Hypertrophic Subaortic Stenosis

  • Hypertrophic Cardiomyopathy

  • Cardiomyopathy, Hypertrophic, Familial

  • Cardiomyopathy, Hypertrophic, 1

  • Familial Asymmetric Septal Hypertrophy

  • Heritable Hypertrophic Cardiomyopathy

  • Fhc

  • Cardiomyopathy, Hypertrophic, Familial, Type 1

Hypertrophic Cardiomyopathy
  • Hypertrophic Obstructive Cardiomyopathy

  • Cardiomyopathy, Hypertrophic

  • Cardiomyopathy Hypertrophic Obstructive

  • Cardiomyopathy, Hypertrophic, Familial

  • Idiopathic Myocardial Hypertrophy

  • Idiopathic Hypertrophic Cardiomyopathy

  • Obstructive Idiopathic Hypertrophic Cardiomyopathy

  • Obstructive Cardiomyopathy

  • Idiopathic Hypertrophic Subaortic Stenosis

  • Muscular Subaortic Stenosis

  • Hypertrophic Obstructive Subaortic Stenosis

Dilated Cardiomyopathy
  • Familial Dilated Cardiomyopathy

  • Primary Dilated Cardiomyopathy

  • Idiopathic Dilated Cardiomyopathy

  • Congestive Cardiomyopathy

  • Idiopathic Dilation Cardiomyopathy

  • Primary Familial Dilated Cardiomyopathy

  • Cardiomyopathy, Dilated

  • DCM

  • Cardiomyopathy, Familial Dilated

  • Dilated Cardiomyopathy, Familial

  • Hypokinetic Dilated Cardiomyopathy, Familial

  • Familial Idiopathic Cardiomyopathy

  • Fdc

  • Cardiomyopathy, Familial Idiopathic

  • Idiopathic Cardiomegaly

  • Dilated Congestive Cardiomyopathy

  • Chronic Dilated Cardiomyopathy

  • Ccm - [Congestive Cardiomyopathy]

  • Cocm - [Congestive Cardiomyopathy]

  • Dcm - [Dilated Cardiomyopathy]

  • Dilated-Hypokinetic Cardiomyopathy

  • Congestive Idiopathic Cardiomyopathy

  • Primary Idiopathic Dilated Cardiomyopathy

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta TPM2 VGNC VGNC:105246
Felis catus TPM2 VGNC VGNC:66477
Bos taurus TPM2 VGNC VGNC:36252
Rattus norvegicus TPM2 RGD RGD:1559479
Mus musculus TPM2 MGD MGI:98810
Canis familiaris TPM2 VGNC VGNC:47742
Others TPM2 NCBI