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Tbio
GJB1
Gap junction beta-1 protein

Protein Summary
Description
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]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000361726
  • ENSP00000354900
  • ENSG00000169562
  • ENST00000374022
  • ENSP00000363134
  • ENST00000374029
  • ENSP00000363141
  • ENST00000646835
  • ENSP00000494596
  • ENST00000647424
  • ENSP00000495960

Symbol
  • CX32
  • CMTX
  • CX32
  • CMTX1
Illumination Graph
Knowledge Table
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


IDG Development Level Summary
Tdark

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)
Tbio

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
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
Expression Data (0 Tissues)
No expression data found
Protein Sequence and Structure
Residue Counts
Protein Sequence
ProtVista Viewer
Related Tools (4)
Target Illumination GWAS Analytics (TIGA)
Thumbnail image for Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
Thumbnail image for GENEVA
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
Thumbnail image for GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
Thumbnail image for ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
Approved Drugs (0)
No approved drugs found
Active Ligands (0)
No active ligands found
Protein-Protein Interactions (75)
GJB2
Tbio
Novelty:  0.00056398
Score:  0.938
Data Source:  Reactome,STRINGDB
MPZ
Tbio
Novelty:  0.00223212
Score:  0.86
Data Source:  STRINGDB
PANX3
Tbio
Family:  IC
Novelty:  0.0071997
Score:  0.795
Data Source:  STRINGDB
PMP22
Tbio
Novelty:  0.00256307
Score:  0.792
Data Source:  STRINGDB
PANX2
Tbio
Family:  IC
Novelty:  0.00620748
Score:  0.785
Data Source:  STRINGDB
PANX1
Tbio
Family:  IC
Novelty:  0.00159814
Score:  0.785
Data Source:  STRINGDB
CNST
Tdark
Novelty:  0.10372637
Score:  0.771
Data Source:  STRINGDB
OCLN
Tbio
Novelty:  0.00047671
Score:  0.77
Data Source:  STRINGDB
GJD3
Tbio
Novelty:  0.05441345
Score:  0.757
Data Source:  STRINGDB
GJA5
Tbio
Novelty:  0.00195794
Score:  0.748
Data Source:  STRINGDB
Nearest Tclin Targets
Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.
Pathways (10)
Gap junction assembly (R-HSA-190861)

Click on a row in the table to change the structure displayed.

Find Similar Targets
Items per page:
1 – 5 of 7
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)
No viral interactions found
Disease Associations (null)
No disease associations found
GWAS Traits (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
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
No IDG generated resources found
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
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Related Publications
Items per page:
0 of 0
PMID
Year
Title