GJB3
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]
Full Name
gap junction protein, beta 3, 31kDa
Function
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.
Biological Process
Cell-cell signaling Source: GO_Central
Cellular response to retinoic acid Source: Ensembl
In utero embryonic development Source: Ensembl
Placenta development Source: Ensembl
Skin development Source: Ensembl
Spermatogenesis Source: Ensembl
Cellular response to retinoic acid Source: Ensembl
In utero embryonic development Source: Ensembl
Placenta development Source: Ensembl
Skin development Source: Ensembl
Spermatogenesis Source: Ensembl
Cellular Location
Cell membrane; Gap junction
Involvement in disease
Erythrokeratodermia variabilis et progressiva 1 (EKVP1):
A form of erythrokeratodermia variabilis et progressiva, a genodermatosis characterized by the coexistence of two independent skin lesions: transient erythema and hyperkeratosis that is usually localized but occasionally occurs in its generalized form. Clinical presentation varies significantly within a family and from one family to another. Palmoplantar keratoderma is present in around 50% of cases.
Deafness, autosomal dominant, 2B (DFNA2B):
A form of non-syndromic sensorineural deafness characterized by progressive high frequency hearing loss in adulthood, with milder expression in females.
A form of erythrokeratodermia variabilis et progressiva, a genodermatosis characterized by the coexistence of two independent skin lesions: transient erythema and hyperkeratosis that is usually localized but occasionally occurs in its generalized form. Clinical presentation varies significantly within a family and from one family to another. Palmoplantar keratoderma is present in around 50% of cases.
Deafness, autosomal dominant, 2B (DFNA2B):
A form of non-syndromic sensorineural deafness characterized by progressive high frequency hearing loss in adulthood, with milder expression in females.
Topology
Cytoplasmic: 1-20
Helical: 21-40
Extracellular: 41-75
Helical: 76-98
Cytoplasmic: 99-126
Helical: 127-149
Extracellular: 150-187
Helical: 188-210
Cytoplasmic: 211-270
Helical: 21-40
Extracellular: 41-75
Helical: 76-98
Cytoplasmic: 99-126
Helical: 127-149
Extracellular: 150-187
Helical: 188-210
Cytoplasmic: 211-270
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Anti-GJB3 antibodies
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CompareTarget: GJB3
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human
Clone: CBYY-C3126
Application*: E, IF, WB
Target: GJB3
Host: Rabbit
Antibody Isotype: IgG
Specificity: Rat
Clone: CBLG1-1206
Application*: WB
Target: GJB3
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBLG1-1205
Application*: WB
Target: GJB3
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human
Clone: 3B4-1B3
Application*: E, IF, WB
Target: GJB3
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBLG1-110
Application*: E, IC, WB
Target: GJB3
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human
Clone: CBLG1-1205
Application*: E, WB, IF
Target: GJB3
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human
Clone: CBLG1-110
Application*: WB, IP, IF, E
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For Research Use Only. Not For Clinical Use.
(P): Predicted
* Abbreviations
- AActivation
- AGAgonist
- APApoptosis
- BBlocking
- BABioassay
- BIBioimaging
- CImmunohistochemistry-Frozen Sections
- CIChromatin Immunoprecipitation
- CTCytotoxicity
- CSCostimulation
- DDepletion
- DBDot Blot
- EELISA
- ECELISA(Cap)
- EDELISA(Det)
- ESELISpot
- EMElectron Microscopy
- FFlow Cytometry
- FNFunction Assay
- GSGel Supershift
- IInhibition
- IAEnzyme Immunoassay
- ICImmunocytochemistry
- IDImmunodiffusion
- IEImmunoelectrophoresis
- IFImmunofluorescence
- IGImmunochromatography
- IHImmunohistochemistry
- IMImmunomicroscopy
- IOImmunoassay
- IPImmunoprecipitation
- ISIntracellular Staining for Flow Cytometry
- LALuminex Assay
- LFLateral Flow Immunoassay
- MMicroarray
- MCMass Cytometry/CyTOF
- MDMeDIP
- MSElectrophoretic Mobility Shift Assay
- NNeutralization
- PImmunohistologyp-Paraffin Sections
- PAPeptide Array
- PEPeptide ELISA
- PLProximity Ligation Assay
- RRadioimmunoassay
- SStimulation
- SESandwich ELISA
- SHIn situ hybridization
- TCTissue Culture
- WBWestern Blot
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