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: 127534
MIM: 605425
HGNC: 4286
Ensembl: ENSG00000189433
Variants:
dbSNP: 127534
ClinVar: 127534
TCGA: ENSG00000189433
COSMIC: GJB4
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000189433 | ENST00000339480 | Q9NTQ9 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38342100 | 2024 | Gap junction beta-4 accelerates cell cycle progression and metastasis through MET-AKT activation in pancreatic cancer. | 1 |
| 38342100 | 2024 | Gap junction beta-4 accelerates cell cycle progression and metastasis through MET-AKT activation in pancreatic cancer. | 1 |
| 32311086 | 2020 | Clinical variability of the GJB4:c.35G > A gene variant: a study of a large Brazilian erythrokeratodermia pedigree. | 0 |
| 32524838 | 2020 | GJB4 and GJC3 variants in non-syndromic hearing impairment in Ghana. | 4 |
| 33048975 | 2020 | Gap junction protein beta 4 plays an important role in cardiac function in humans, rodents, and zebrafish. | 9 |
| 32311086 | 2020 | Clinical variability of the GJB4:c.35G > A gene variant: a study of a large Brazilian erythrokeratodermia pedigree. | 0 |
| 32524838 | 2020 | GJB4 and GJC3 variants in non-syndromic hearing impairment in Ghana. | 4 |
| 33048975 | 2020 | Gap junction protein beta 4 plays an important role in cardiac function in humans, rodents, and zebrafish. | 9 |
| 30177841 | 2019 | Gjb4 serves as a novel biomarker for lung cancer and promotes metastasis and chemoresistance via Src activation. | 18 |
| 30177841 | 2019 | Gjb4 serves as a novel biomarker for lung cancer and promotes metastasis and chemoresistance via Src activation. | 18 |
| 25333454 | 2015 | Association between mutations in the gap junction β4 gene and nonsyndromic hearing loss: genotype-phenotype correlation patterns. | 1 |
| 25333454 | 2015 | Association between mutations in the gap junction β4 gene and nonsyndromic hearing loss: genotype-phenotype correlation patterns. | 1 |
| 23037955 | 2013 | Novel mutation in GJB4 gene (connexin 30.3) in a family with erythrokeratodermia variabilis. | 2 |
| 23678955 | 2013 | Progressive symmetrical erythrokeratoderma: report of two Chinese families and evaluation for mutations in the loricrin, connexin 30.3 and connexin 31 genes. | 1 |
| 23037955 | 2013 | Novel 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/gjb4-(gap-junction-protein-beta-4)
