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Gene : HSPB3 Homo sapiens

Name  ? heat shock protein family B (small) member 3 Cytological Location  5q11.2
Brief Description  heat shock protein family B (small) member 3
Description  This gene encodes a muscle-specific small heat shock protein. A mutation in this gene is the cause of autosomal dominant distal hereditary motor neuropathy type 2C.[provided by RefSeq, Sep 2010]
  • synonyms:
  • HSPL27,
  • DHMN2C,
  • HMN2C,
  • heat shock 27kD protein 3,
  • NM_006308,
  • HSPL27,
  • Y17782,
  • heat shock 27kDa protein 3,
  • HSPB3,
  • uc003jph.2,
  • HGNC:5248,
  • OTTHUMG00000096995
  • identifiers:
  • 8988,
  • ENSG00000169271,
  • HSPB3

Genome feature

Region: gene ? Length: 679  
Location: 5:54455699-54456377 Cyto location: 5q11.2


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Function

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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 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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Interactions

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Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

3753 SN Ps

5 Cross References

17 Data Sets

3 Homologues

0 Located Features

97 Rna Seq Results