GeDiPNet: Comprehensive Gene Data - OMIM, HGNC, Ensembl, UniProt, GO, Transcription Factors & miRNA

Home
Browse
- Genes
- Diseases
- Pathways
  - Reactome
  - KEGG
Analysis
Help
Links
FAQ
Contact us

TPM2 (tropomyosin 2)

Gene

7169

Tropomyosin 2

TPM2

AMCD1, CMYO23, CMYP23, DA1, DA2B, DA2B4, HEL-S-273, NEM4, TMSB

9p13.3

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(16)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003779	Function	Actin binding	IDA	17194691
GO:0005829	Component	Cytosol	TAS
GO:0005862	Component	Muscle thin filament tropomyosin	TAS	7606936
GO:0005884	Component	Actin filament	IBA	21873635
GO:0006936	Process	Muscle contraction	IBA	21873635
GO:0006936	Process	Muscle contraction	TAS
GO:0007015	Process	Actin filament organization	IBA	21873635
GO:0008307	Function	Structural constituent of muscle	TAS	7606936
GO:0015629	Component	Actin cytoskeleton	ISS
GO:0030049	Process	Muscle filament sliding	TAS
GO:0042802	Function	Identical protein binding	ISS
GO:0042803	Function	Protein homodimerization activity	ISS
GO:0043462	Process	Regulation of ATPase activity	IDA	17194691
GO:0046982	Function	Protein heterodimerization activity	ISS
GO:0051015	Function	Actin filament binding	IBA	21873635
GO:0051015	Function	Actin filament binding	ISS

MIM	HGNC	e!Ensembl
190990	12011	ENSG00000198467

Protein

UniProt ID

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

Sequence

MDAIKKKMQMLKLDKENAIDRAEQAEADKKQAEDRCKQLEEEQQALQKKLKGTEDEVEKY
SESVKEAQEKLEQAEKKATDAEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAA
DESERGMKVIENRAMKDEEKMELQEMQLKEAKHIAEDSDRKYEEVARKLVILEGELERSE
ERAEVAESKCGDLEEELKIVTNNLKSLEAQADKYSTKEDKYEEEIKLLEEKLKEAETRAE
FAERSVAKLEKTIDDLEDEVYAQKMKYKAISEELDNALNDITSL

Sequence length

284

Interactions

View interactions

| © 2021, Biomedical Informatics Centre, NIRRH |
ICMR-National Institute for Research in Reproductive Health, Jehangir Merwanji Street, Parel, Mumbai-400012
Tel: +91-22-24192104, Fax No: +91-22-24139412