TPM2 (tropomyosin 2)

Gene

• Entrez ID: 7169
• Gene name: Tropomyosin 2
• Gene symbol: TPM2
• Synonyms: AMCD1, DA1, DA2B, DA2B4, HEL-S-273, NEM4, TMSB
• 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, nemaline myopathy and distal arthrogryposis syndromes. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2009]

SNPs

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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT001326	hsa-miR-1-3p	pSILAC, Proteomics	18668040
MIRT001326	hsa-miR-1-3p	Proteomics;Microarray	18668037
MIRT454945	hsa-miR-6834-5p	PAR-CLIP	23592263
MIRT454946	hsa-miR-4710	PAR-CLIP	23592263
MIRT454947	hsa-miR-6878-5p	PAR-CLIP	23592263
MIRT454948	hsa-miR-4516	PAR-CLIP	23592263
MIRT454949	hsa-miR-5703	PAR-CLIP	23592263
MIRT454950	hsa-miR-4434	PAR-CLIP	23592263
MIRT454951	hsa-miR-3665	PAR-CLIP	23592263
MIRT454952	hsa-miR-6133	PAR-CLIP	23592263
MIRT454953	hsa-miR-6130	PAR-CLIP	23592263
MIRT454954	hsa-miR-6129	PAR-CLIP	23592263
MIRT454955	hsa-miR-6127	PAR-CLIP	23592263
MIRT454956	hsa-miR-4510	PAR-CLIP	23592263
MIRT454957	hsa-miR-4419a	PAR-CLIP	23592263
MIRT454958	hsa-miR-6875-5p	PAR-CLIP	23592263
MIRT454959	hsa-miR-3126-5p	PAR-CLIP	23592263
MIRT454960	hsa-miR-6770-5p	PAR-CLIP	23592263
MIRT454961	hsa-miR-7515	PAR-CLIP	23592263
MIRT454962	hsa-miR-125a-3p	PAR-CLIP	23592263
MIRT454963	hsa-miR-6760-5p	PAR-CLIP	23592263
MIRT454964	hsa-miR-6838-5p	PAR-CLIP	23592263
MIRT454965	hsa-miR-497-5p	PAR-CLIP	23592263
MIRT454966	hsa-miR-424-5p	PAR-CLIP	23592263
MIRT454967	hsa-miR-195-5p	PAR-CLIP	23592263
MIRT454968	hsa-miR-16-5p	PAR-CLIP	23592263
MIRT454969	hsa-miR-15b-5p	PAR-CLIP	23592263
MIRT454970	hsa-miR-15a-5p	PAR-CLIP	23592263
MIRT454971	hsa-miR-3154	PAR-CLIP	23592263
MIRT454972	hsa-miR-4801	PAR-CLIP	23592263
MIRT454973	hsa-miR-4731-3p	PAR-CLIP	23592263

Gene ontology (GO)

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

Other IDs

• MIM: 190990
• HGNC: 12011
• e!Ensembl: 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 interaction with caldesmon. In non-muscle cells is implicated in stabilizing cytoskeleton actin filaments. The non-muscle isoform may have a role in agonist-mediated receptor internalization.
• 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