TPM2 - tropomyosin 2 Gene

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

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子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

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	参考文献	由来
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	参考文献	由来
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

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	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
Intra	TPM2	P07951	TPM1	Homo sapiens	P09493	Crosslink	30021884

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant TPM2 Proteins

製品番号	製品名	アクセッション番号	純度
HY-P72264	TPM2 Protein, Human (His)	P07951 (D14-L284)	≥ 90%, as determined by reducing SDS-PAGE.

関連疾患

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS18641	Tpm2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS14937	TPM2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25126	Tpm2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	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