TPM3 - tropomyosin 3 Gene

Homo sapiens

Also known as TM3; TM5; TRK; CFTD; NEM1; TM-5; TM30; CAPM1; TM30nm; TPM3nu; TPMsk3; hscp30; HEL-189; HEL-S-82p; OK/SW-cl.5

Gene ID: 7170 | Gene type: protein coding

About TPM3

Cytogenetic location: 1q21.3 Genomic coordinates (GRCh38): 1:154,155,308-154,192,100 (from NCBI)

This gene has 27 transcripts (splice variants), 119 orthologues, 3 paralogues and is associated with 83 phenotypes. Ubiquitous expression in bone marrow (RPKM 43.6), appendix (RPKM 31.3) and 25 other tissues.

Summary

This gene encodes a member of the tropomyosin family of actin-binding proteins. Tropomyosins are dimers of coiled-coil proteins that provide stability to actin filaments and regulate access of other actin-binding proteins. Mutations in this gene result in autosomal dominant nemaline myopathy and other muscle disorders. This locus is involved in translocations with other loci, including anaplastic lymphoma receptor tyrosine kinase (ALK) and neurotrophic tyrosine kinase receptor type 1 (NTRK1), which result in the formation of fusion proteins that act as oncogenes. There are numerous pseudogenes for this gene on different chromosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]

TPM3 Products(15)

mRNA	Protein	Name
NM_001043351.2	NP_001036816.1	tropomyosin alpha-3 chain isoform Tpm3.2cy
NM_001043352.2	NP_001036817.1	tropomyosin alpha-3 chain isoform Tpm3.7cy
NM_001043353.2	NP_001036818.1	tropomyosin alpha-3 chain isoform Tpm3.4cy
NM_001278188.2	NP_001265117.1	tropomyosin alpha-3 chain isoform 6
NM_001278189.2	NP_001265118.1	tropomyosin alpha-3 chain isoform Tpm3.5cy
NM_001278190.2	NP_001265119.1	tropomyosin alpha-3 chain isoform 8
NM_001278191.2	NP_001265120.1	tropomyosin alpha-3 chain isoform 9
NM_001349679.2	NP_001336608.1	tropomyosin alpha-3 chain isoform Tpm3.3cy
NM_001364679.2	NP_001351608.1	tropomyosin alpha-3 chain isoform 10
NM_001364680.2	NP_001351609.1	tropomyosin alpha-3 chain isoform 11
NM_001364681.2	NP_001351610.1	tropomyosin alpha-3 chain isoform 12
NM_001364682.1	NP_001351611.1	tropomyosin alpha-3 chain isoform 13
NM_001364683.1	NP_001351612.1	tropomyosin alpha-3 chain isoform Tpm3.5cy
NM_152263.4	NP_689476.2	tropomyosin alpha-3 chain isoform Tpm3.12st
NM_153649.4	NP_705935.1	tropomyosin alpha-3 chain isoform Tpm3.1cy

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in stress fiber	IDA IDA: Inferred from direct assay	16236705	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

TPM3 Protein Structure

Tropomyosin

0
100
200
285 a.a.

Protein Preferred Names

Protein Names

tropomyosin alpha-3 chain

alpha-tropomyosin, slow skeletal

Recombinant TPM3 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P71083	TPM3 Protein, Human	P06753-2 (M1-M248)	≥95%

Related Diseases

Diseases

Alias

Nemaline Myopathy 1

Cap Myopathy 1	NEM1
Nemaline Myopathy 1, Autosomal Dominant Or Recessive	Nemaline Myopathy, Type 1
CAPM1	Cap Disease
Cap Myopathy Tpm3-Related	Nemaline Myopathy 1 Autosomal Dominant Or Recessive
Myopathy, Nemaline, Type 1	Cap Myopathy

Myopathy, Congenital, With Fiber-Type Disproportion

CFTD	Fiber-Type Disproportion Myopathy, Congenital
Cftdm	Myopathy, Congenital, With Fiber-Type Disproportion 1
Congenital Fiber-Type Disproportion Myopathy	Myopathy, Congenital, With Fiber Type Disproportion

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

Cap Myopathy

Cap Disease

Congenital Myopathy With Caps

Congenital Generalized Hypercontractile Muscle Stiffness Syndrome

Inflammatory Myofibroblastic Tumor

Inflammatory Fibrosarcoma

Intermediate Congenital Nemaline Myopathy

Intermediate Nemaline Myopathy

Intermediate Congenital Nm

Childhood-Onset Nemaline Myopathy

Mild Nemaline Myopathy

Nemaline Myopathy, Childhood Onset

Myopathy

Muscular Diseases

Myopathies

Lipofibromatosis-Like Neural Tumor

Congenital Fibrosarcoma

Infantile Fibrosarcoma

Childhood Fibrosarcoma

Pediatric Fibrosarcoma

Epithelioid Inflammatory Myofibroblastic Sarcoma

Congenital Structural Myopathy

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

Congenital Mesoblastic Nephroma

Mesoblastic Nephroma

Nephroma, Mesoblastic

Spitzoid Melanoma

Atypical Spitz Nevus

Mesenchymal Cell Neoplasm

Benign Miscellaneous Mesenchymal Tumor	Mesenchymal Tumor
Mesenchymal Tumors

Infantile Myofibromatosis

Lipofibromatosis

Myofibromatosis

Pulmonary Plasma Cell Granuloma

Plasma Cell Granuloma, Pulmonary	Granuloma, Plasma Cell, Pulmonary
Lymphocytic Pseudotumor Of Lung	Sclerosing Hemangiocytoma Of Lung

Childhood Kidney Cell Carcinoma

Pediatric Renal Cell Carcinoma

Childhood Renal Cell Carcinoma

Nemaline Myopathy 2

NEM2	Nemaline Myopathy 2, Autosomal Recessive
Nemaline Myopathy, Type 2	Neb-Related Nemaline Myopathy
Myopathy, Nemaline, Type 2

Hypotonia

Batten-Turner Congenital Myopathy

Congenital Myopathy	Batten Turner Congenital Myopathy
Myopathy Congenital	Myopathy, Congenital
Myotonia Congenita	Benign Congenital Myopathy

Mammary Analogue Secretory Carcinoma

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

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]

Kidney Cortex Disease

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

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

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

Bioactive Molecules (6)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-137465	CG428	Degrader	/	Unkown
HY-131244	ALK-IN-9	Inhibitor	/	Unkown
HY-RS14938	TPM3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-124689	TR-100		/	Unkown
HY-157542	CG428-NEG		/	Unkown
HY-164514	NMS-P626	Inhibitor	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	TPM3	VGNC	VGNC:47743
Rattus norvegicus	TPM3	RGD	RGD:621546
Mus musculus	TPM3	MGD	MGI:1890149
Bos taurus	TPM3	VGNC	VGNC:36253
Felis catus	TPM3	VGNC	VGNC:107956
Macaca mulatta	TPM3	VGNC	VGNC:78635
Others	TPM3	NCBI