GJB1 (gap junction protein beta 1)

2007-02-01  

Identity

HGNC
GJB1
LOCATION
Xq13.1
LOCUSID
2705
ALIAS
CMTX,CMTX1,CX32
FUSION GENES
Show Gene Fusions

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
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
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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
382506132024Role of connexin 32 in the directional differentiation of induced pluripotent stem cells into hepatocytes.0
383476372024Connexin32 gap junction channels deliver miR155-3p to mediate pyroptosis in renal ischemia-reperfusion injury.0
382506132024Role of connexin 32 in the directional differentiation of induced pluripotent stem cells into hepatocytes.0
383476372024Connexin32 gap junction channels deliver miR155-3p to mediate pyroptosis in renal ischemia-reperfusion injury.0
363941562023A novel splicing mutation in 5'UTR of GJB1 causes X-linked Charcot-Marie-tooth disease.1
363941562023A novel splicing mutation in 5'UTR of GJB1 causes X-linked Charcot-Marie-tooth disease.1
353834242022GJB1 variants in Charcot-Marie-Tooth disease X-linked type 1 in Mali.1
358941302022Connexin32 regulates expansion of liver cancer stem cells via the PI3K/Akt signaling pathway.3
363974552022Identification of a rare missense mutation in GJB1 and prenatal diagnosis in a Chinese family with CMT: A case report.0
353834242022GJB1 variants in Charcot-Marie-Tooth disease X-linked type 1 in Mali.1
358941302022Connexin32 regulates expansion of liver cancer stem cells via the PI3K/Akt signaling pathway.3
363974552022Identification of a rare missense mutation in GJB1 and prenatal diagnosis in a Chinese family with CMT: A case report.0
340506962021Connexin32 activates necroptosis through Src-mediated inhibition of caspase 8 in hepatocellular carcinoma.12
341466572021Cysteine residues in the C-terminal tail of connexin32 regulate its trafficking.1
345513942021Cx32 inhibits the autophagic effect of Nur77 in SH-SY5Y cells and rat brain with ischemic stroke.3

Citation

Dessen P

GJB1 (gap junction protein beta 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

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