help  | about  | cite  | software

Gene : GJB1 Homo sapiens

Name  ? gap junction protein beta 1 Cytological Location  Xq13.1
Brief Description  gap junction protein beta 1
Description  This gene encodes a member of the gap junction protein family. The gap junction proteins are membrane-spanning proteins that assemble to form gap junction channels that facilitate the transfer of ions and small molecules between cells. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene cause X-linked Charcot-Marie-Tooth disease, an inherited peripheral neuropathy. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2008]
  • synonyms:
  • gap junction protein, beta 1, 32kDa (connexin 32),
  • gap junction protein, beta 1, 32kDa (connexin 32, Charcot-Marie-Tooth neuropathy, X-linked),
  • CX32,
  • CX32,
  • OTTHUMG00000021797,
  • CMTX1,
  • gap junction protein, beta 1, 32kD (connexin 32, Charcot-Marie-Tooth neuropathy, X-linked),
  • CMTX,
  • X04325,
  • NM_000166,
  • CMTX,
  • uc004dzf.4,
  • connexin 32,
  • GJB1,
  • HGNC:4283,
  • CMTX1,
  • Charcot-Marie-Tooth neuropathy, X-linked,
  • gap junction protein, beta 1, 32kDa
  • identifiers:
  • 2705,
  • ENSG00000169562,
  • GJB1

Genome feature

Region: gene ? Length: 10305  
Location: X:71215212-71225516 Cyto location: Xq13.1

Uni Prot Comments Displayer

Protein Atlas Displayer

Gene Expression Atlas Tissues Displayer

Gene Expression Atlas Diseases Displayer

Publication Counts Displayer

Curated Proteins Displayer


Gene Ontology Displayer

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


J Browse Displayer

Gene Structure Displayer

Overlapping Features Displayer

Mouse Alleles Displayer

Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.


Gene --> Proteins.


Gene Report --> GWAS hit


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]


Homologue Displayer


Cytoscape Network Displayer

Gene --> Physical and Genetic Interactions


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

Gene Ontology

Gene --> GO terms.



56 SN Ps

5 Cross References

18 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results