GJB1
Gap junction beta-1 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 encodes a member of the gap junction protein family. The gap junction proteins are membrane-spanning proteins that assemble to form gap junction channels that facilitate the transfer of ions and small molecules between cells. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene cause X-linked Charcot-Marie-Tooth disease, an inherited peripheral neuropathy. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2008]
- ENST00000361726
- ENSP00000354900
- ENSG00000169562
- ENST00000374022
- ENSP00000363134
- ENST00000374029
- ENSP00000363141
- ENST00000646835
- ENSP00000494596
- ENST00000647424
- ENSP00000495960
- CX32
- CMTX
- CX32
- CMTX1
Most Knowledge About | Knowledge Value
(0 to 1 scale) | ||
|---|---|---|---|
PubMedID | 0.79 | ||
cell type or tissue | 0.76 | ||
transcription factor perturbation | 0.74 | ||
chemical | 0.73 | ||
protein domain | 0.73 | ||
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: 950.6 (req: < 5)
Gene RIFs: 129 (req: <= 3)
Antibodies: 522 (req: <= 50)
These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 950.6 (req: >= 5)
Gene RIFs: 129 (req: > 3)
Antibodies: 522 (req: > 50)
- OR - satisfy the following criterion:
Gene Ontology Terms: 8
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 (75)
Nearest Tclin Targets
Pathways (10)
Reactome (7)
WikiPathways (3)
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 | Oligomerization of connexins into connexons | ||||
Name | Explore in Pharos | Explore in Source | ||
|---|---|---|---|---|
Gap junction assembly | ||||
Gap junction trafficking | ||||
Gap junction trafficking and regulation | ||||
Membrane Trafficking | ||||
Oligomerization of connexins into connexons | ||||
Viral Interactions (0)
Gene Ontology Terms (12)
Functions (2)
Components (4)
Processes (6)
GO Term | Evidence | Assigned by | ||
|---|---|---|---|---|
Traceable Author Statement (TAS) | Reactome | |||
Inferred from Electronic Annotation (IEA) | Ensembl | |||
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 | ||
|---|---|---|---|---|---|---|---|---|---|
reticulocyte measurement | 3 | 2 | 3 | 94.6 | |||||
reticulocyte count | 2 | 1 | 2 | 86.6 | |||||
testosterone measurement | 1 | 1 | 1 | 12 | |||||
2 | 1 | 0 | 1 | 10.8 | |||||
Items per page:
1 – 4 of 4
GWAS Trait | EFO ID | Beta Count | Odds Ratio | Evidence (Mean Rank Score) | Provenance | ||
|---|---|---|---|---|---|---|---|
reticulocyte measurement | 3 | 94.6 | |||||
reticulocyte count | 2 | 86.6 | |||||
testosterone measurement | 1 | 12 | |||||
0 | 1 | 10.8 | |||||
Find similar targets by:
IDG Resources
Orthologs (13)
1 – 5 of 13
Species | Name | Source ID | Gene ID | OMA | EggNOG | Inparanoid | ||
|---|---|---|---|---|---|---|---|---|
Chimp | gap junction protein beta 1 | VGNC:2716 | 465696 | |||||
Macaque | gap junction protein beta 1 | 706327 | ||||||
Mouse | MGI:95719 | 14618 | ||||||
Rat | RGD:61926 | 29584 | ||||||
Dog | gap junction protein beta 1 | VGNC:41237 | 480953 | |||||
Species | Name | OMA | EggNOG | Inparanoid | ||
|---|---|---|---|---|---|---|
Chimp | gap junction protein beta 1 | |||||
Macaque | gap junction protein beta 1 | |||||
Mouse | ||||||
Rat | ||||||
Dog | gap junction protein beta 1 | |||||
Publication Statistics
PubMed Score 950.60
PubMed score by year
PubTator Score 546.65
PubTator score by year
Related Publications
Text Mined References (207)
GeneRif Annotations (129)
Items per page:
0 of 0
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