GJB3 (gap junction protein beta 3)

2014-11-01 Affiliation

Identity

HGNC

GJB3

LOCATION

1p34.3

LOCUSID

2707

ALIAS

CX31,DFNA2,DFNA2B,EKV,EKVP1

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 2707
MIM: 603324
HGNC: 4285
Ensembl: ENSG00000188910

Variants:

dbSNP: 2707
ClinVar: 2707
TCGA: ENSG00000188910
COSMIC: GJB3

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000188910	ENST00000373362	O75712
ENSG00000188910	ENST00000373366	O75712

Expression (GTEx)

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

Pathway	Source	External ID
Vesicle-mediated transport	REACTOME	R-HSA-5653656
Membrane Trafficking	REACTOME	R-HSA-199991
Gap junction trafficking and regulation	REACTOME	R-HSA-157858
Gap junction trafficking	REACTOME	R-HSA-190828
Gap junction assembly	REACTOME	R-HSA-190861

References

Pubmed ID	Year	Title	Citations
19744334	2009	Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China.	49
19050930	2009	Digenic inheritance of non-syndromic deafness caused by mutations at the gap junction proteins Cx26 and Cx31.	26
19523148	2009	Analysis of gene polymorphisms associated with K ion circulation in the inner ear of patients susceptible and resistant to noise-induced hearing loss.	23
20668687	2010	Genotyping with a 198 mutation arrayed primer extension array for hereditary hearing loss: assessment of its diagnostic value for medical practice.	12
16549784	2006	Properties of human connexin 31, which is implicated in hereditary dermatological disease and deafness.	11
19755382	2009	EKV mutant connexin 31 associated cell death is mediated by ER stress.	11
22393412	2012	Pathogenic connexin-31 forms constitutively active hemichannels to promote necrotic cell death.	11
12165562	2002	Defective trafficking and cell death is characteristic of skin disease-associated connexin 31 mutations.	10
14583444	2003	Molecular interaction of connexin 30.3 and connexin 31 suggests a dominant-negative mechanism associated with erythrokeratodermia variabilis.	9
16297190	2005	Clinical and genetic heterogeneity of erythrokeratoderma variabilis.	9

Citation

Dessen P

GJB3 (gap junction protein beta 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/63798/gjb3