Entity Details

Primary name PLCB3
Entity type gene
Source Source Link

Details

PrimaryID5331
RefseqGene
SymbolPLCB3
Namephospholipase C beta 3
Chromosome11
Location11q13.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1994-12-08
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsPLCB3_HUMAN

GO terms

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GOName
GO:0003073 regulation of systemic arterial blood pressure
GO:0004435 phosphatidylinositol phospholipase C activity
GO:0004629 phospholipase C activity
GO:0005509 calcium ion binding
GO:0005516 calmodulin binding
GO:0005634 nucleus
GO:0005829 cytosol
GO:0007186 G protein-coupled receptor signaling pathway
GO:0007223 Wnt signaling pathway, calcium modulating pathway
GO:0016020 membrane
GO:0016042 lipid catabolic process
GO:0032991 protein-containing complex
GO:0043647 inositol phosphate metabolic process
GO:0045296 cadherin binding
GO:0046488 phosphatidylinositol metabolic process
GO:0048015 phosphatidylinositol-mediated signaling
GO:0099524 postsynaptic cytosol

Diseases

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Disease IDSourceNameDescription
618961 OMIMSpondylometaphyseal dysplasia with corneal dystrophy (SMDCD)An autosomal recessive disorder characterized by postnatal growth deficiency, profound limb shortening with proximal and distal segments involvement, narrow chest, radiological abnormalities involving the spine, pelvis and metaphyses, corneal clouding, and intellectual disability. The disease is caused by variants affecting the gene represented in this entry.