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Gene : GJB4 Homo sapiens

Name  ? gap junction protein beta 4 Cytological Location  1p34.3
Brief Description  gap junction protein beta 4
Description  This gene encodes a transmembrane connexin protein that is a component of gap junctions. Mutations in this gene have been associated with erythrokeratodermia variabilis, progressive symmetric erythrokeratoderma and hearing impairment. [provided by RefSeq, Dec 2009]
  • synonyms:
  • OTTHUMG00000004052,
  • NM_153212,
  • GJB4,
  • CX30.3,
  • connexin 30.3,
  • gap junction protein, beta 4, 30.3kDa,
  • EKVP2,
  • gap junction protein, beta 4 (connexin 30.3),
  • CX30.3,
  • uc001bxv.1,
  • EKV,
  • HGNC:4286,
  • gap junction protein, beta 4
  • identifiers:
  • 127534,
  • ENSG00000189433,
  • GJB4

Genome feature

Region: gene ? Length: 2588  
Location: 1:34759740-34762327 Cyto location: 1p34.3


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

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Genomics

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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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Expression

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

Gene Ontology

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Other

269 SN Ps

5 Cross References

18 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results