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Gene : TPM2 Homo sapiens

Name  ? tropomyosin 2 Cytological Location  9p13.3
Brief Description  tropomyosin 2
Description  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]
  • synonyms:
  • HGNC:12011,
  • arthrogryposis multiplex congenital, distal, type 1,
  • NEM4,
  • TMSB,
  • tropomyosin 2 (beta),
  • NM_003289,
  • DA1,
  • DA2B4,
  • OTTHUMG00000019878,
  • TPM2,
  • uc064syd.1,
  • DA2B,
  • HEL-S-273,
  • NEM4,
  • nemaline myopathy type 4,
  • AMCD1,
  • DA1,
  • AMCD1
  • identifiers:
  • 7169,
  • ENSG00000198467,
  • TPM2

Genome feature

Region: gene ? Length: 8064  
Location: 9:35681993-35690056 reverse strand Cyto location: 9p13.3


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Gene -> HPO annotation (Human Phenotype Ontology)

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Genomics

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Proteins

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SNPs

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Disease

4 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Expression

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Other

3756 SN Ps

5 Cross References

20 Data Sets

9 Homologues

0 Located Features

97 Rna Seq Results