Entity Details

Primary name GJB4
Entity type gene
Source Source Link

Details

PrimaryID127534
RefseqGeneNG_016243
SymbolGJB4
Namegap junction protein beta 4
Chromosome1
Location1p34.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-11-30
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsCXB4_HUMAN

GO terms

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GOName
GO:0005243 gap junction channel activity
GO:0005654 nucleoplasm
GO:0005730 nucleolus
GO:0005887 integral component of plasma membrane
GO:0005922 connexin complex
GO:0007267 cell-cell signaling
GO:0007608 sensory perception of smell
GO:0030054 cell junction
GO:0042048 olfactory behavior
GO:1990349 gap junction-mediated intercellular transport

Diseases

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Disease IDSourceNameDescription
617524 OMIMErythrokeratodermia variabilis et progressiva 2 (EKVP2)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. The disease is caused by variants affecting the gene represented in this entry.

Interactions

10 interactions

InteractorPartnerSourcesPublicationsLink
GJB4TMEM11BioGRID, IntAct32296183 details
GJB4C4orf3BioGRID, IntAct32296183 details
GJB4TM4SF4BioGRID, IntAct32296183 details
GJB4LHFPL5BioGRID, IntAct32296183 details
GJB4COMTBioGRID, IntAct32296183 details
GJB4TMEM86ABioGRID, IntAct32296183 details
GJB4KLRC1BioGRID, IntAct32296183 details
GJB4TMEM218BioGRID, IntAct32296183 details
GJB4TMBIM6BioGRID, IntAct32296183 details
GJB4PSME1BioGRID, IntAct28514442 details