GJB4 (gap junction protein beta 4)

2019-04-01  

Identity

HGNC
GJB4
LOCATION
1p34.3
LOCUSID
127534
ALIAS
CX30.3,EKV,EKVP2

Other Information

Locus ID:

NCBI: 127534
MIM: 605425
HGNC: 4286
Ensembl: ENSG00000189433

Variants:

dbSNP: 127534
ClinVar: 127534
TCGA: ENSG00000189433
COSMIC: GJB4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000189433ENST00000339480Q9NTQ9

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
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
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
testis
epididymis
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
hair
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
383421002024Gap junction beta-4 accelerates cell cycle progression and metastasis through MET-AKT activation in pancreatic cancer.1
383421002024Gap junction beta-4 accelerates cell cycle progression and metastasis through MET-AKT activation in pancreatic cancer.1
323110862020Clinical variability of the GJB4:c.35G > A gene variant: a study of a large Brazilian erythrokeratodermia pedigree.0
325248382020GJB4 and GJC3 variants in non-syndromic hearing impairment in Ghana.4
330489752020Gap junction protein beta 4 plays an important role in cardiac function in humans, rodents, and zebrafish.9
323110862020Clinical variability of the GJB4:c.35G > A gene variant: a study of a large Brazilian erythrokeratodermia pedigree.0
325248382020GJB4 and GJC3 variants in non-syndromic hearing impairment in Ghana.4
330489752020Gap junction protein beta 4 plays an important role in cardiac function in humans, rodents, and zebrafish.9
301778412019Gjb4 serves as a novel biomarker for lung cancer and promotes metastasis and chemoresistance via Src activation.18
301778412019Gjb4 serves as a novel biomarker for lung cancer and promotes metastasis and chemoresistance via Src activation.18
253334542015Association between mutations in the gap junction β4 gene and nonsyndromic hearing loss: genotype-phenotype correlation patterns.1
253334542015Association between mutations in the gap junction β4 gene and nonsyndromic hearing loss: genotype-phenotype correlation patterns.1
230379552013Novel mutation in GJB4 gene (connexin 30.3) in a family with erythrokeratodermia variabilis.2
236789552013Progressive symmetrical erythrokeratoderma: report of two Chinese families and evaluation for mutations in the loricrin, connexin 30.3 and connexin 31 genes.1
230379552013Novel mutation in GJB4 gene (connexin 30.3) in a family with erythrokeratodermia variabilis.2

Citation

Dessen P

GJB4 (gap junction protein beta 4)

Atlas Genet Cytogenet Oncol Haematol. 2019-04-01

Online version: http://atlasgeneticsoncology.org/gene/57912