GJB3
Summary: 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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| gap junction protein beta 3 | MIM:603324 | Ensembl:ENSG00000188910 | HGNC:HGNC:4285 | PA28696 | 1p34.3 |
Gene Categories:
TRANSPORTERGO terms in GJB3
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | IEA | GO:0005737 | cytoplasm |
| CC | NAS | GO:0005921 | gap junction |
| CC | IEA | GO:0005922 | connexin complex |
| CC | IEA | GO:0016021 | integral component of membrane |
| CC | IDA | GO:0030054 | cell junction |
| CC | IDA | GO:0043231 | intracellular membrane-bounded organelle |
| BP | IEA | GO:0001701 | in utero embryonic development |
| BP | IEA | GO:0001890 | placenta development |
| BP | IEA | GO:0007154 | cell communication |
| BP | IEA | GO:0007283 | spermatogenesis |
| BP | IEA | GO:0043588 | skin development |
| BP | IEA | GO:0055085 | transmembrane transport |
| BP | IEA | GO:0071300 | cellular response to retinoic acid |
| MF | NAS | GO:0005243 | gap junction channel activity |
Gene expression in normal tissue: GJB3
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in GJB3
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP536 | Calcium Regulation in the Cardiac Cell |
| reactome | R-HSA-157858 | Gap junction trafficking and regulation |
| reactome | R-HSA-190828 | Gap junction trafficking |
| reactome | R-HSA-190861 | Gap junction assembly |
| reactome | R-HSA-199991 | Membrane Trafficking |
| reactome | R-HSA-5653656 | Vesicle-mediated transport |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in GJB3
CLASSFICATION
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