GJB2 (gap junction protein beta 2)

2003-05-01  

Identity

HGNC
GJB2
LOCATION
13q12.11
LOCUSID
2706
ALIAS
BAPS,CX26,DFNA3,DFNA3A,DFNB1,DFNB1A,HID,KID,NSRD1,PPK

Other Information

Locus ID:

NCBI: 2706
MIM: 121011
HGNC: 4284
Ensembl: ENSG00000165474

Variants:

dbSNP: 2706
ClinVar: 2706
TCGA: ENSG00000165474
COSMIC: GJB2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000165474ENST00000382844P29033
ENSG00000165474ENST00000382844H9U1J4
ENSG00000165474ENST00000382848P29033
ENSG00000165474ENST00000382848H9U1J4

Expression (GTEx)

0
500
1000
1500
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
Transport of connexons to the plasma membraneREACTOMER-HSA-190872

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
193400742009Structure of the connexin 26 gap junction channel at 3.5 A resolution.268
163809072005GJB2 mutations and degree of hearing loss: a multicenter study.104
163809072005GJB2 mutations and degree of hearing loss: a multicenter study.104
155924612005Impaired permeability to Ins(1,4,5)P3 in a mutant connexin underlies recessive hereditary deafness.99
209531872010Association analyses identify six new psoriasis susceptibility loci in the Chinese population.84
175510082007Three-dimensional structure of a human connexin26 gap junction channel reveals a plug in the vestibule.83
121105732002Conformational changes in surface structures of isolated connexin 26 gap junctions.80
121723922002GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review.76
121723922002GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review.76
205848912010Differentially altered Ca2+ regulation and Ca2+ permeability in Cx26 hemichannels formed by the A40V and G45E mutations that cause keratitis ichthyosis deafness syndrome.76

Citation

Dessen P

GJB2 (gap junction protein beta 2)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/40716/gjb2