GJB1 (gap junction protein beta 1)

2007-02-01  

Identity

HGNC
LOCATION
Xq13.1
LOCUSID
ALIAS
CMTX,CMTX1,CX32
FUSION GENES

Other Information

Locus ID:

NCBI: 2705
MIM: 304040
HGNC: 4283
Ensembl: ENSG00000169562

Variants:

dbSNP: 2705
ClinVar: 2705
TCGA: ENSG00000169562
COSMIC: GJB1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000169562ENST00000361726P08034
ENSG00000169562ENST00000374029P08034
ENSG00000169562ENST00000447581C9JWU8
ENSG00000169562ENST00000645009A0A2R8YD01
ENSG00000169562ENST00000646835P08034
ENSG00000169562ENST00000647424P08034

Expression (GTEx)

0
50
100
150
200

Pathways

PathwaySourceExternal ID
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Gap junction trafficking and regulationREACTOMER-HSA-157858
Gap junction traffickingREACTOMER-HSA-190828
Gap junction assemblyREACTOMER-HSA-190861
Transport of connexins along the secretory pathwayREACTOMER-HSA-190827
Oligomerization of connexins into connexonsREACTOMER-HSA-190704

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
146631442003Molecular basis of calcium regulation in connexin-32 hemichannels.74
173534732007CMT1X phenotypes represent loss of GJB1 gene function.41
121118422002Cellular mechanisms of connexin32 mutations associated with CNS manifestations.34
193695432009Connexin32 mutations cause loss of function in Schwann cells and oligodendrocytes leading to PNS and CNS myelination defects.34
118353752002Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.33
183723032008Charges dispersed over the permeation pathway determine the charge selectivity and conductance of a Cx32 chimeric hemichannel.32
118913462002Voltage opens unopposed gap junction hemichannels formed by a connexin 32 mutant associated with X-linked Charcot-Marie-Tooth disease.29
206286242010Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility "hot-spot".29
122050822002Impaired trafficking of connexins in androgen-independent human prostate cancer cell lines and its mitigation by alpha-catenin.28
227713942012How do mutations in GJB1 cause X-linked Charcot-Marie-Tooth disease?24

Citation

Dessen P

GJB1 (gap junction protein beta 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/43629/gjb1