GJB5 (gap junction protein beta 5)

2012-09-01  

Identity

HGNC
GJB5
LOCATION
1p34.3
LOCUSID
2709
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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
N/A

References

Pubmed IDYearTitleCitations
193392702009Genetic associations of 115 polymorphisms with cancers of the upper aerodigestive tract across 10 European countries: the ARCAGE project.24
217773772012Cx31.1 acts as a tumour suppressor in non-small cell lung cancer (NSCLC) cell lines through inhibition of cell proliferation and metastasis.11
253889702015Connexin 31.1 degradation requires the Clathrin-mediated autophagy in NSCLC cell H1299.6

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