GJB5 (gap junction protein beta 5)

2012-09-01  

Identity

HGNC
LOCATION
1p34.3
LOCUSID
ALIAS
CX31.1

Other Information

Locus ID:

NCBI: 2709
MIM: 604493
HGNC: 4287
Ensembl: ENSG00000189280

Variants:

dbSNP: 2709
ClinVar: 2709
TCGA: ENSG00000189280
COSMIC: GJB5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000189280ENST00000338513O95377

Expression (GTEx)

0
50
100
150

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

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
385337272024Cx31.1 can selectively intermix with co-expressed connexins to facilitate its assembly into gap junctions.0
385337272024Cx31.1 can selectively intermix with co-expressed connexins to facilitate its assembly into gap junctions.0
342404062022GJB5 association with BRAF mutation and survival in cutaneous malignant melanoma.5
342404062022GJB5 association with BRAF mutation and survival in cutaneous malignant melanoma.5
253889702015Connexin 31.1 degradation requires the Clathrin-mediated autophagy in NSCLC cell H1299.10
253889702015Connexin 31.1 degradation requires the Clathrin-mediated autophagy in NSCLC cell H1299.10
217773772012Cx31.1 acts as a tumour suppressor in non-small cell lung cancer (NSCLC) cell lines through inhibition of cell proliferation and metastasis.20
217773772012Cx31.1 acts as a tumour suppressor in non-small cell lung cancer (NSCLC) cell lines through inhibition of cell proliferation and metastasis.20
193392702009Genetic associations of 115 polymorphisms with cancers of the upper aerodigestive tract across 10 European countries: the ARCAGE project.29
193392702009Genetic associations of 115 polymorphisms with cancers of the upper aerodigestive tract across 10 European countries: the ARCAGE project.29

Citation

Dessen P

GJB5 (gap junction protein beta 5)

Atlas Genet Cytogenet Oncol Haematol. 2012-09-01

Online version: http://atlasgeneticsoncology.org/gene/52871/gjb5