Entity Details

Primary name PLCB4
Entity type gene
Source Source Link

Details

PrimaryID5332
RefseqGeneNG_032790
SymbolPLCB4
Namephospholipase C beta 4
Chromosome20
Location20p12.3-p12.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1995-10-10
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsPLCB4_HUMAN

GO terms

Show/Hide Table
GOName
GO:0004435 phosphatidylinositol phospholipase C activity
GO:0004629 phospholipase C activity
GO:0005509 calcium ion binding
GO:0005634 nucleus
GO:0005790 smooth endoplasmic reticulum
GO:0005829 cytosol
GO:0007186 G protein-coupled receptor signaling pathway
GO:0014069 postsynaptic density
GO:0016042 lipid catabolic process
GO:0030425 dendrite
GO:0043647 inositol phosphate metabolic process
GO:0048015 phosphatidylinositol-mediated signaling
GO:0050804 modulation of chemical synaptic transmission
GO:0098688 parallel fiber to Purkinje cell synapse
GO:0098978 glutamatergic synapse

Diseases

Show/Hide Table
Disease IDSourceNameDescription
614669 OMIMAuriculocondylar syndrome 2 (ARCND2)A craniofacial malformation syndrome characterized by variable mandibular anomalies, including mild to severe micrognathia, temporomandibular joint ankylosis, cleft palate, and a characteristic ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark (question-mark ear). Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia. The disease is caused by variants affecting the gene represented in this entry.

Interactions

7 interactions

InteractorPartnerSourcesPublicationsLink
PLCB4RELBioGRID, IntAct25416956 details
PLCB4NLGN3BioGRID, IntAct25464930 details
PLCB4MEOX2BioGRID32296183 details
PLCB4GRIN1IntAct16767099 details
PLCB4KDM1ADIP26751641 details
PLCB4TP53BioGRID32807901 details
PLCB4HNRNPLBioGRID28611215 details