PLCB4

1-Phosphatidylinositol-4,5-bisphosphate phosphodiesterase beta-4 is an enzyme that in humans is encoded by the PLCB4 gene.^[5][6]

PLCB4
Identifiers
Aliases	PLCB4, ARCND2, PI-PLC, phospholipase C beta 4
External IDs	OMIM: 600810; MGI: 107464; HomoloGene: 8471; GeneCards: PLCB4; OMA:PLCB4 - orthologs
Gene location (Human) Chr. Chromosome 20 (human)[1] Band 20p12.3-p12.2 Start 9,068,763 bp[1] End 9,481,242 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2 F3|2 66.64 cM Start 135,500,931 bp[2] End 135,856,513 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in parotid gland lateral nuclear group of thalamus sural nerve bronchial epithelial cell cerebellar cortex cerebellar hemisphere mucosa of sigmoid colon mucosa of paranasal sinus right hemisphere of cerebellum cerebellar vermis Top expressed in vestibular membrane of cochlear duct medial geniculate nucleus medial dorsal nucleus parotid gland iris submandibular gland cerebellar vermis lobe of cerebellum lateral geniculate nucleus superior colliculus More reference expression data BioGPS More reference expression data
Gene ontology Molecular function phospholipase C activity phosphoric diester hydrolase activity calcium ion binding protein binding hydrolase activity signal transducer activity phosphatidylinositol phospholipase C activity Cellular component cytosol dendrite nucleus postsynaptic density smooth endoplasmic reticulum parallel fiber to Purkinje cell synapse glutamatergic synapse postsynapse intracellular anatomical structure Biological process lipid metabolism lipid catabolic process signal transduction intracellular signal transduction inositol phosphate metabolic process G protein-coupled receptor signaling pathway modulation of chemical synaptic transmission inositol trisphosphate biosynthetic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5332 18798 Ensembl ENSG00000101333 ENSMUSG00000039943 UniProt Q15147 n/a RefSeq (mRNA) NM_000933 NM_001172646 NM_182797 NM_013829 NM_001355153 NM_001355154 NM_001355155 NM_001355156 RefSeq (protein) NP_000924 NP_001166117 NP_877949 NP_001364063 NP_001364064 NP_001364065 NP_001364071 NP_001364072 n/a Location (UCSC) Chr 20: 9.07 – 9.48 Mb Chr 2: 135.5 – 135.86 Mb PubMed search [3] [4]
Wikidata
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Function

The protein encoded by this gene catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate. This reaction uses calcium as a cofactor and plays an important role in the intracellular transduction of many extracellular signals in the retina. Two transcript variants encoding different isoforms have been found for this gene.^[6]

Oncogenic mutations in this gene have been found in cases of uveal melanoma.^[7]