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Gene : HSPB8 Homo sapiens

Name  ? heat shock protein family B (small) member 8 Cytological Location  12q24.23
Brief Description  heat shock protein family B (small) member 8
Description  The protein encoded by this gene belongs to the superfamily of small heat-shock proteins containing a conservative alpha-crystallin domain at the C-terminal part of the molecule. The expression of this gene in induced by estrogen in estrogen receptor-positive breast cancer cells, and this protein also functions as a chaperone in association with Bag3, a stimulator of macroautophagy. Thus, this gene appears to be involved in regulation of cell proliferation, apoptosis, and carcinogenesis, and mutations in this gene have been associated with different neuromuscular diseases, including Charcot-Marie-Tooth disease. [provided by RefSeq, Jul 2008]
  • synonyms:
  • CMT2L,
  • E2IG1,
  • NM_014365,
  • H11,
  • HspB8,
  • DHMN2,
  • HSP22,
  • HSP22,
  • H11,
  • heat shock 22kDa protein 8,
  • AF191017,
  • heat shock 27kDa protein 8,
  • HSPB8,
  • HMN2A,
  • E2IG1,
  • OTTHUMG00000168932,
  • CMT2L,
  • HGNC:30171,
  • HMN2,
  • uc001txb.4
  • identifiers:
  • 26353,
  • ENSG00000152137,
  • HSPB8

Genome feature

Region: gene ? Length: 15816  
Location: 12:119178931-119194746 Cyto location: 12q24.23

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2 Diseases

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

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

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Gene Ontology

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212 SN Ps

5 Cross References

18 Data Sets

3 Homologues

0 Located Features

97 Rna Seq Results