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Gene : GJB3 Homo sapiens

Name  ? gap junction protein beta 3 Cytological Location  1p34.3
Brief Description  gap junction protein beta 3
Description  This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene can cause non-syndromic deafness or erythrokeratodermia variabilis, a skin disorder. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
  • synonyms:
  • GJB3,
  • gap junction protein, beta 3, 31kDa (connexin 31),
  • uc001bxx.4,
  • erythrokeratodermia variabilis,
  • CX31,
  • connexin 31,
  • DFNA2B,
  • DFNA2,
  • CX31,
  • EKVP1,
  • BC012918,
  • gap junction protein, beta 3, 31kDa,
  • DFNA2,
  • HGNC:4285,
  • OTTHUMG00000004051,
  • EKV,
  • EKV,
  • NM_024009,
  • gap junction protein, beta 3, 31kD (connexin 31)
  • identifiers:
  • 2707,
  • ENSG00000188910,
  • GJB3

Genome feature

Region: gene ? Length: 5151  
Location: 1:34781214-34786364 Cyto location: 1p34.3


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Gene -> HPO annotation (Human Phenotype Ontology)

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Proteins

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SNPs

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Disease

3 Diseases

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

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Gene -> HPO annotation (Human Phenotype Ontology)

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Expression

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Other

612 SN Ps

5 Cross References

17 Data Sets

23 Homologues

0 Located Features

97 Rna Seq Results