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].

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Name
OMIM ID
Ensembl ID
HGNC ID
PHARMGKB ID
Map Location
Namegap junction protein beta 3
OMIM IDMIM:603324
Ensembl IDEnsembl:ENSG00000188910
HGNC IDHGNC:HGNC:4285
PHARMGKB IDPA28696
Map Location1p34.3

Gene Categories:

TRANSPORTER

GO terms in GJB3


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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
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Gene expression in normal tissue: GJB3

Gene-model tissue-cancer distribution: Bubble Plot

BREAStissue: BREAS cancer: BREAST model num: 0BREASTtissue: BREAST cancer: Breast Carcinoma model num: 1undefinetissue: undefine cancer: undefined model num: 0undefinedtissue: undefined cancer: PANCAN model num: 2

Gene-drug pathway distribution

EGFR signaling1Breast cancer1

Pathways in GJB3


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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
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Gene-Drug: Aster Plot


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Drug ID
Drug Name
Model Num.
iGMDRD133 Lapatinib 1
iGMDRD131 Erlotinib 2
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Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in GJB3

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Model
Level
Reference ID
Tissue
Cancer
Drug
Clinical Response
Source
No matching records found

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