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

• P08034
• B2R8R2
• D3DVV2
• Q5U0S4

Gene Name

• GJB1

Ensembl ID

• ENST00000361726
• ENSP00000354900
• ENSG00000169562
• ENST00000374022
• ENSP00000363134
• ENST00000374029
• ENSP00000363141
• ENST00000646835
• ENSP00000494596
• ENST00000647424
• ENSP00000495960

Symbol

• CX32
• CMTX
• CX32
• CMTX1

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

Protein Classes

PANTHER Classes

Protein / Cell Junction Protein / Gap Junction / Gap Junction Beta-1 Protein

DTO Classes

Protein / Cell-cell Junction / Gap Junction / Gap Junction Beta-1 Protein

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: 986.33   (req: < 5)

Gene RIFs: 148   (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: 986.33   (req: >= 5)

Gene RIFs: 148   (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