Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	7169
Gene name	Tropomyosin 2
Gene symbol	TPM2
Synonyms (NCBI Gene)	AMCD1CMYO23CMYP23DA1DA2BDA2B4HEL-S-273NEM4TMSB
Chromosome	9
Chromosome location	9p13.3
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,

Show/Hide all (24)

SNP ID	Visualize variation	Clinical significance	Consequence
rs35401252	G>-,GG,GGG,GGGG	Conflicting-interpretations-of-pathogenicity, not-provided, likely-benign, benign, uncertain-significance	Intron variant
rs104894127	G>C	Pathogenic, not-provided	Coding sequence variant, missense variant
rs104894128	T>G	Pathogenic, not-provided	Coding sequence variant, missense variant
rs104894129	C>T	Pathogenic	Coding sequence variant, missense variant
rs113612402	A>C,G,T	Pathogenic	Splice donor variant
rs137853305	G>A	Pathogenic	Coding sequence variant, missense variant
rs137853306	C>T	Pathogenic, not-provided	Coding sequence variant, missense variant
rs137853307	G>C	Pathogenic, not-provided	Coding sequence variant, missense variant, 3 prime UTR variant, intron variant
rs199476146	CTT>-	Pathogenic	Coding sequence variant, inframe deletion
rs199476147	TCT>-	Not-provided, pathogenic	Coding sequence variant, inframe deletion
rs199476153	CTC>-	Not-provided, pathogenic	Coding sequence variant, inframe deletion
rs201987709	G>A,C	Likely-pathogenic	Stop gained, missense variant, coding sequence variant
rs727504180	C>A,G	Likely-pathogenic	Missense variant, coding sequence variant
rs775399371	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs878854363	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1064796239	TC>-	Likely-pathogenic	Intron variant
rs1281970248	A>C,T	Likely-pathogenic	Stop gained, coding sequence variant
rs1554658995	TCA>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs1554659545	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554659746	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1563929383	T>C	Pathogenic	Coding sequence variant, missense variant
rs1563929454	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1587956195	->CCTGGGCCTCCA	Pathogenic	3 prime UTR variant, intron variant, coding sequence variant, inframe insertion
rs1587959107	G>T	Likely-pathogenic	Missense variant, coding sequence variant

Show/Hide all (79)

miRTarBase ID	miRNA	Experiments	Reference
MIRT001326	hsa-miR-1-3p	pSILAC	18668040
MIRT001326	hsa-miR-1-3p	Proteomics;Microarray	18668037
MIRT001326	hsa-miR-1-3p	Proteomics	18668040
MIRT454973	hsa-miR-4731-3p	PAR-CLIP	23592263
MIRT454972	hsa-miR-4801	PAR-CLIP	23592263
MIRT454971	hsa-miR-3154	PAR-CLIP	23592263
MIRT454970	hsa-miR-15a-5p	PAR-CLIP	23592263
MIRT454969	hsa-miR-15b-5p	PAR-CLIP	23592263
MIRT454968	hsa-miR-16-5p	PAR-CLIP	23592263
MIRT454967	hsa-miR-195-5p	PAR-CLIP	23592263
MIRT454966	hsa-miR-424-5p	PAR-CLIP	23592263
MIRT454965	hsa-miR-497-5p	PAR-CLIP	23592263
MIRT454964	hsa-miR-6838-5p	PAR-CLIP	23592263
MIRT454963	hsa-miR-6760-5p	PAR-CLIP	23592263
MIRT454962	hsa-miR-125a-3p	PAR-CLIP	23592263
MIRT454961	hsa-miR-7515	PAR-CLIP	23592263
MIRT454960	hsa-miR-6770-5p	PAR-CLIP	23592263
MIRT454959	hsa-miR-3126-5p	PAR-CLIP	23592263
MIRT454958	hsa-miR-6875-5p	PAR-CLIP	23592263
MIRT454957	hsa-miR-4419a	PAR-CLIP	23592263
MIRT454956	hsa-miR-4510	PAR-CLIP	23592263
MIRT454955	hsa-miR-6127	PAR-CLIP	23592263
MIRT454954	hsa-miR-6129	PAR-CLIP	23592263
MIRT454953	hsa-miR-6130	PAR-CLIP	23592263
MIRT454952	hsa-miR-6133	PAR-CLIP	23592263
MIRT454951	hsa-miR-3665	PAR-CLIP	23592263
MIRT454950	hsa-miR-4434	PAR-CLIP	23592263
MIRT454948	hsa-miR-4516	PAR-CLIP	23592263
MIRT454949	hsa-miR-5703	PAR-CLIP	23592263
MIRT454947	hsa-miR-6878-5p	PAR-CLIP	23592263
MIRT454946	hsa-miR-4710	PAR-CLIP	23592263
MIRT454945	hsa-miR-6834-5p	PAR-CLIP	23592263
MIRT454973	hsa-miR-4731-3p	PAR-CLIP	23592263
MIRT454972	hsa-miR-4801	PAR-CLIP	23592263
MIRT454971	hsa-miR-3154	PAR-CLIP	23592263
MIRT454970	hsa-miR-15a-5p	PAR-CLIP	23592263
MIRT454969	hsa-miR-15b-5p	PAR-CLIP	23592263
MIRT454968	hsa-miR-16-5p	PAR-CLIP	23592263
MIRT454967	hsa-miR-195-5p	PAR-CLIP	23592263
MIRT454966	hsa-miR-424-5p	PAR-CLIP	23592263
MIRT454965	hsa-miR-497-5p	PAR-CLIP	23592263
MIRT454964	hsa-miR-6838-5p	PAR-CLIP	23592263
MIRT454963	hsa-miR-6760-5p	PAR-CLIP	23592263
MIRT454962	hsa-miR-125a-3p	PAR-CLIP	23592263
MIRT454961	hsa-miR-7515	PAR-CLIP	23592263
MIRT454960	hsa-miR-6770-5p	PAR-CLIP	23592263
MIRT454959	hsa-miR-3126-5p	PAR-CLIP	23592263
MIRT454958	hsa-miR-6875-5p	PAR-CLIP	23592263
MIRT454957	hsa-miR-4419a	PAR-CLIP	23592263
MIRT454956	hsa-miR-4510	PAR-CLIP	23592263
MIRT454955	hsa-miR-6127	PAR-CLIP	23592263
MIRT454954	hsa-miR-6129	PAR-CLIP	23592263
MIRT454953	hsa-miR-6130	PAR-CLIP	23592263
MIRT454952	hsa-miR-6133	PAR-CLIP	23592263
MIRT454951	hsa-miR-3665	PAR-CLIP	23592263
MIRT454950	hsa-miR-4434	PAR-CLIP	23592263
MIRT454948	hsa-miR-4516	PAR-CLIP	23592263
MIRT454949	hsa-miR-5703	PAR-CLIP	23592263
MIRT454947	hsa-miR-6878-5p	PAR-CLIP	23592263
MIRT454946	hsa-miR-4710	PAR-CLIP	23592263
MIRT454945	hsa-miR-6834-5p	PAR-CLIP	23592263
MIRT1449474	hsa-miR-182	CLIP-seq
MIRT1449475	hsa-miR-1976	CLIP-seq
MIRT1449476	hsa-miR-19a	CLIP-seq
MIRT1449477	hsa-miR-19b	CLIP-seq
MIRT1449478	hsa-miR-3173-3p	CLIP-seq
MIRT1449479	hsa-miR-3179	CLIP-seq
MIRT1449480	hsa-miR-3190	CLIP-seq
MIRT1449481	hsa-miR-3202	CLIP-seq
MIRT1449482	hsa-miR-409-3p	CLIP-seq
MIRT1449483	hsa-miR-4268	CLIP-seq
MIRT1449484	hsa-miR-4448	CLIP-seq
MIRT1449485	hsa-miR-4533	CLIP-seq
MIRT1449486	hsa-miR-4722-3p	CLIP-seq
MIRT1449487	hsa-miR-4763-5p	CLIP-seq
MIRT1449488	hsa-miR-4779	CLIP-seq
MIRT1449489	hsa-miR-4781-3p	CLIP-seq
MIRT1449490	hsa-miR-544	CLIP-seq
MIRT1449491	hsa-miR-767-3p	CLIP-seq

Show/Hide all (25)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003779	Function	Actin binding	IDA	17194691
GO:0003779	Function	Actin binding	IEA
GO:0005515	Function	Protein binding	IPI	30021884, 32296183, 32814053, 33961781
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005862	Component	Muscle thin filament tropomyosin	IEA
GO:0005862	Component	Muscle thin filament tropomyosin	TAS	7606936
GO:0005884	Component	Actin filament	IBA
GO:0006936	Process	Muscle contraction	IBA
GO:0007015	Process	Actin filament organization	IBA
GO:0008307	Function	Structural constituent of muscle	TAS	7606936
GO:0015629	Component	Actin cytoskeleton	IEA
GO:0015629	Component	Actin cytoskeleton	ISS
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	IPI	32296183
GO:0042802	Function	Identical protein binding	ISS
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0042803	Function	Protein homodimerization activity	ISS
GO:0043462	Process	Regulation of ATP-dependent activity	IDA	17194691
GO:0046982	Function	Protein heterodimerization activity	IEA
GO:0046982	Function	Protein heterodimerization activity	ISS
GO:0051015	Function	Actin filament binding	IBA
GO:0051015	Function	Actin filament binding	IEA
GO:0051015	Function	Actin filament binding	ISS

MIM	HGNC	e!Ensembl
190990	12011	ENSG00000198467

P07951

Protein name

Tropomyosin beta chain (Beta-tropomyosin) (Tropomyosin-2)

Protein function

Binds to actin filaments in muscle and non-muscle cells. Plays a central role, in association with the troponin complex, in the calcium dependent regulation of vertebrate striated muscle contraction. Smooth muscle contraction is regulated by int

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00261	Tropomyosin	48 → 284	Tropomyosin	Coiled-coil

Tissue specificity

TISSUE SPECIFICITY: Present in primary breast cancer tissue, absent from normal breast tissue. {ECO:0000269|Ref.10}.

Sequence

MDAIKKKMQMLKLDKENAIDRAEQAEADKKQAEDRCKQLEEEQQALQKKLKGTEDEVEKY
SESVKEAQEKLEQAEKKATDAEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAA
DESERGMKVIENRAMKDEEKMELQEMQLKEAKHIAEDSDRKYEEVARKLVILEGELERSE
ERAEVAESKCGDLEEELKIVTNNLKSLEAQADKYSTKEDKYEEEIKLLEEKLKEAETRAE
FAERSVAKLEKTIDDLEDEVYAQKMKYKAISEELDNALNDITSL

Sequence length

284

Interactions

View interactions

315

Show/Hide Causal Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Arthrogryposis	Pathogenic	rs137853305	RCV004798725
Arthrogryposis, distal, type 1A	Likely pathogenic; Pathogenic	rs2131853219, rs2131851980, rs199476146, rs2131852702, rs745549628, rs2490700207, rs104894127, rs104894129, rs137853305, rs137853306, rs199476153, rs199476147, rs201987709, rs1554658995, rs1554659746 View all (8 more)	RCV001379218 RCV001969124 RCV000795370 RCV002246783 RCV002835009 RCV003514606 RCV000013276 RCV000531827 RCV001775067 RCV001206319 RCV000532873 RCV001379219 RCV001201905 RCV000544441 RCV002298710 RCV000690257 RCV000700134 RCV002535642 RCV001007833 RCV001007834 RCV001052327 RCV001209276 RCV001254895
Arthrogryposis, distal, type 2B4	Pathogenic	rs137853305, rs1563929383, rs113612402	RCV000013279 RCV000778065 RCV000778066
Congenital myopathy 23	Likely pathogenic; Pathogenic	rs2131843731, rs199476146, rs104894129, rs137853306, rs199476153, rs199476147, rs137853307, rs1563929454, rs1824676022	RCV001730076 RCV000223947 RCV000013278 RCV000013280 RCV000500415 RCV003231100 RCV003231101 RCV000754748 RCV001254895
Distal arthrogryposis type 2B1	Likely pathogenic	rs1587959107	RCV000853383
Nemaline myopathy	Likely pathogenic	rs199476145	RCV004587611
TPM2-related cap myopathy	Likely pathogenic; Pathogenic	rs1563929039	RCV002051885
TPM2-related disorder	Pathogenic; Likely pathogenic	rs137853305, rs199476153, rs2490670454	RCV004532331 RCV004528107 RCV004531702
TPM2-related myopathy	Likely pathogenic; Pathogenic	rs1824676022	RCV003389253

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Arthrogryposis multiplex congenita	Benign; Likely benign; Conflicting classifications of pathogenicity	rs35401252, rs1554658501	RCV000363665 RCV000318354 RCV000333376
Congenital myopathy with fiber type disproportion	Benign; Likely benign; Uncertain significance	rs35401252, rs3215700, rs1197412497, rs1825152365	RCV002498408 RCV002498233 RCV001196072 RCV001198004
Gastric cancer	Uncertain significance	rs778874374	RCV005927601
Nemaline Myopathy, Dominant	Benign; Likely benign; Conflicting classifications of pathogenicity	rs35401252, rs1554658501	RCV000276094 RCV000293794 RCV000385600

Show/Hide Text Mining Associations (43)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Actin Accumulation Myopathy	Associate	22798622
Aortic Aneurysm Abdominal	Associate	22797469
Arthrogryposis	Associate	27726070
Arthrogryposis multiplex congenita distal type 1	Associate	17103435, 19142688, 21834041, 27726070, 30285720, 7977374, 9012416
Arthrogryposis multiplex congenita distal type 1	Stimulate	23401156
Body Dysmorphic Disorders	Associate	27726070
Breast Neoplasms	Associate	27108600
Breast Neoplasms	Inhibit	29414807
Cap Myopathy	Associate	27726070
Carcinoma Hepatocellular	Associate	34850589
Clubfoot	Associate	21834041, 7977374
Colorectal Neoplasms	Associate	27333992, 30786729, 31159706, 33096021, 39342165
Contracture	Associate	21834041, 24692096
Coronary Disease	Associate	36060667
Distal arthrogryposis type 2B	Associate	19142688, 23678273, 30285720
Esophageal Squamous Cell Carcinoma	Associate	21517111
Freeman Sheldon syndrome	Stimulate	19142688
Freeman Sheldon syndrome	Associate	9012416
Genetic Diseases Inborn	Associate	20045868, 24692096
Hypoxia	Stimulate	29414807
Inflammation	Associate	27046189
Jaw Diseases	Associate	24692096
Leukemia Myeloid Acute	Associate	36518627
Lupus Erythematosus Systemic	Associate	38347676
Lymphatic Metastasis	Associate	29414807
Multiple pterygium syndrome	Associate	36292632
Muscle Hypertonia	Associate	38219297
Muscle Hypotonia	Associate	38219297
Muscle Weakness	Associate	38219297
Muscular Diseases	Associate	23678273, 23886664, 33646172, 37457373, 38219297
Myopathies Nemaline	Associate	27726070, 33397769, 38219297
Myotonia Congenita	Associate	22798622, 24692096, 27726070
Necrosis	Associate	38013282
Nemaline myopathy 4	Associate	31526942
Neoplasm Metastasis	Inhibit	29414807
Neoplasms	Inhibit	22506042, 34112125
Neoplasms	Associate	27333992, 29414807, 38013282
Polycystic Ovary Syndrome	Associate	27046189
Post Acute COVID 19 Syndrome	Associate	37924708
Qazi Markouizos syndrome	Associate	38219297
Squamous Cell Carcinoma of Head and Neck	Associate	37876534
Ureteral Obstruction	Associate	38013282
Urinary Bladder Neoplasms	Associate	21483740, 21672358, 31020952, 35734544

TPM2 (tropomyosin 2)