GJB3
Gap junction beta-3 protein
Protein Summary
One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell. This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene can cause non-syndromic deafness or erythrokeratodermia variabilis, a skin disorder. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
- ENST00000373362
- ENSP00000362460
- ENSG00000188910
- ENST00000373366
- ENSP00000362464
- CX31
- EKV
- CX31
- DFNA2
- EKVP1
- DFNA2B
Most Knowledge About | Knowledge Value
(0 to 1 scale) | ||
|---|---|---|---|
gene perturbation | 0.9 | ||
PubMedID | 0.89 | ||
transcription factor perturbation | 0.74 | ||
protein domain | 0.73 | ||
tissue sample | 0.71 | ||
Protein Classes
IDG Development Level Summary
These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 147.01 (req: < 5)
Gene RIFs: 37 (req: <= 3)
Antibodies: 292 (req: <= 50)
These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 147.01 (req: >= 5)
Gene RIFs: 37 (req: > 3)
Antibodies: 292 (req: > 50)
- OR - satisfy the following criterion:
Gene Ontology Terms: 7
Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions
Active Ligand: 0
Target has at least one approved drug - AND - satisfies the preceding conditions
Active Drug: 0
Expression Data (0 Tissues)
Protein Sequence and Structure
Residue Counts
Protein Sequence
ProtVista Viewer
Related Tools (4)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
Approved Drugs (0)
Active Ligands (0)
Protein-Protein Interactions (64)
Nearest Tclin Targets
Pathways (6)
Reactome (5)
WikiPathways (1)
Click on a row in the table to change the structure displayed.
Data Source | Name | Explore in Pharos | Explore in Source | ||
|---|---|---|---|---|---|
Reactome | Gap junction assembly | ||||
Reactome | Gap junction trafficking | ||||
Reactome | Gap junction trafficking and regulation | ||||
Reactome | Membrane Trafficking | ||||
Reactome | Vesicle-mediated transport | ||||
Name | Explore in Pharos | Explore in Source | ||
|---|---|---|---|---|
Gap junction assembly | ||||
Gap junction trafficking | ||||
Gap junction trafficking and regulation | ||||
Membrane Trafficking | ||||
Vesicle-mediated transport | ||||
Viral Interactions (0)
Gene Ontology Terms (13)
Functions (1)
Components (6)
Processes (6)
GO Term | Evidence | Assigned by | ||
|---|---|---|---|---|
Non-traceable Author Statement (NAS) | UniProtKB | |||
Disease Associations (null)
GWAS Traits (4)
Items per page:
1 – 4 of 4
GWAS Trait | EFO ID | Study Count | SNP Count | Beta Count | Odds Ratio | Evidence (Mean Rank Score) | Provenance | ||
|---|---|---|---|---|---|---|---|---|---|
viral load | 1 | 1 | 1 | 66.8 | |||||
platelet crit | 1 | 1 | 1 | 48.5 | |||||
myeloid white cell count | 1 | 1 | 1 | 48.5 | |||||
intraocular pressure measurement | 1 | 1 | 0 | 6.2 | 37.6 | ||||
Items per page:
1 – 4 of 4
GWAS Trait | EFO ID | Beta Count | Odds Ratio | Evidence (Mean Rank Score) | Provenance | ||
|---|---|---|---|---|---|---|---|
viral load | 1 | 66.8 | |||||
platelet crit | 1 | 48.5 | |||||
myeloid white cell count | 1 | 48.5 | |||||
intraocular pressure measurement | 0 | 6.2 | 37.6 | ||||
Find similar targets by:
IDG Resources
Orthologs (10)
1 – 5 of 10
Species | Name | Source ID | Gene ID | OMA | EggNOG | Inparanoid | ||
|---|---|---|---|---|---|---|---|---|
Macaque | gap junction protein beta 3 | 710834 | ||||||
Mouse | MGI:95721 | 14620 | ||||||
Rat | RGD:2695 | 29585 | ||||||
Dog | gap junction protein beta 3 | VGNC:41239 | 482486 | |||||
Horse | gap junction protein beta 3 | VGNC:18356 | 100055573 | |||||
Species | Name | OMA | EggNOG | Inparanoid | ||
|---|---|---|---|---|---|---|
Macaque | gap junction protein beta 3 | |||||
Mouse | ||||||
Rat | ||||||
Dog | gap junction protein beta 3 | |||||
Horse | gap junction protein beta 3 | |||||
Publication Statistics
PubMed Score 147.01
PubMed score by year
PubTator Score 112.44
PubTator score by year
Related Publications
Text Mined References (63)
GeneRif Annotations (37)
Items per page:
0 of 0
PMID | Year | Title |
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