GJB6 (gap junction protein beta 6)

2007-09-01  

Identity

HGNC
GJB6
LOCATION
13q12.11
LOCUSID
10804
ALIAS
CX30,DFNA3,DFNA3B,DFNB1B,ECTD2,ED2,EDH,HED,HED2

Other Information

Locus ID:

NCBI: 10804
MIM: 604418
HGNC: 4288
Ensembl: ENSG00000121742

Variants:

dbSNP: 10804
ClinVar: 10804
TCGA: ENSG00000121742
COSMIC: GJB6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000121742ENST00000241124O95452
ENSG00000121742ENST00000241124A0A024RDS4
ENSG00000121742ENST00000400065O95452
ENSG00000121742ENST00000400065A0A024RDS4
ENSG00000121742ENST00000400066O95452
ENSG00000121742ENST00000400066A0A024RDS4
ENSG00000121742ENST00000636852O95452
ENSG00000121742ENST00000636852A0A024RDS4
ENSG00000121742ENST00000642251A0A2R8Y6N2
ENSG00000121742ENST00000643121O95452
ENSG00000121742ENST00000643121A0A024RDS4
ENSG00000121742ENST00000643211O95452
ENSG00000121742ENST00000643211A0A024RDS4
ENSG00000121742ENST00000644236A0A2R8Y4J9
ENSG00000121742ENST00000644283O95452
ENSG00000121742ENST00000644283A0A024RDS4
ENSG00000121742ENST00000644667O95452
ENSG00000121742ENST00000644667A0A024RDS4
ENSG00000121742ENST00000645654A0A2R8Y5T6
ENSG00000121742ENST00000646108A0A2R8YCY0
ENSG00000121742ENST00000647029O95452
ENSG00000121742ENST00000647029A0A024RDS4
ENSG00000121742ENST00000647243O95452
ENSG00000121742ENST00000647243A0A024RDS4

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

References

Pubmed IDYearTitleCitations
118071482002A deletion involving the connexin 30 gene in nonsyndromic hearing impairment.114
121723922002GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review.76
145713682003Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study.64
206135452010Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children.59
197443342009Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China.49
176151632007Human connexin26 and connexin30 form functional heteromeric and heterotypic channels.47
116686442001A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews.39
118964582002A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect?36
128657582003Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands.32
253836242014Correlations of differentially expressed gap junction connexins Cx26, Cx30, Cx32, Cx43 and Cx46 with breast cancer progression and prognosis.32

Citation

Dessen P

GJB6 (gap junction protein beta 6)

Atlas Genet Cytogenet Oncol Haematol. 2007-09-01

Online version: http://atlasgeneticsoncology.org/gene/49731/gjb6