PLCB4 (phospholipase C beta 4)

Gene

• Entrez ID: 5332
• Gene name: Phospholipase C beta 4
• Gene symbol: PLCB4
• Synonyms: ARCND2, PI-PLC
• Chromosome: 20
• Chromosome location: 20p12.3-p12.2
• Summary: 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. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2010]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs387907179	A>C,G	Pathogenic	Coding sequence variant, missense variant
rs397514480	A>G	Pathogenic	Coding sequence variant, missense variant
rs397514481	G>A,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs397514482	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs397514483	A>C	Pathogenic	Coding sequence variant, missense variant
rs397514769	A>T	Pathogenic	Coding sequence variant, missense variant
rs397514770	G>A	Pathogenic	Coding sequence variant, missense variant
rs397514771	A>T	Pathogenic	Coding sequence variant, missense variant
rs1057521489	G>T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant, upstream transcript variant
rs1555839474	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1568763104	G>A,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT021355	hsa-miR-9-5p	Microarray	17612493
MIRT028848	hsa-miR-26b-5p	Microarray	19088304
MIRT439952	hsa-miR-412-3p	HITS-CLIP	24374217
MIRT731963	hsa-miR-371a-3p	Luciferase reporter assay, Western blot	27484502

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004435	Function	Phosphatidylinositol phospholipase C activity	IBA	21873635
GO:0004629	Function	Phospholipase C activity	TAS
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005634	Component	Nucleus	IEA
GO:0005790	Component	Smooth endoplasmic reticulum	IEA
GO:0005829	Component	Cytosol	TAS
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS
GO:0014069	Component	Postsynaptic density	IEA
GO:0016042	Process	Lipid catabolic process	IEA
GO:0030425	Component	Dendrite	IEA
GO:0043647	Process	Inositol phosphate metabolic process	TAS
GO:0048015	Process	Phosphatidylinositol-mediated signaling	IBA	21873635
GO:0050804	Process	Modulation of chemical synaptic transmission	IEA
GO:0098688	Component	Parallel fiber to Purkinje cell synapse	IEA
GO:0098978	Component	Glutamatergic synapse	IEA

Other IDs

• MIM: 600810
• HGNC: 9059
• e!Ensembl: ENSG00000101333

Protein

• UniProt ID: Q15147
• Protein name: 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 (EC 3.1.4.11) (Phosphoinositide phospholipase C-beta-4) (Phospholipase C-beta-4) (PLC-beta-4)
• Protein function: The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. This form has a role in retina signal transduction.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF17787	PH_14	12 → 140	PH domain	Domain
  PF09279	EF-hand_like	209 → 305	Phosphoinositide-specific phospholipase C, efhand-like	Domain
  PF00388	PI-PLC-X	315 → 464	Phosphatidylinositol-specific phospholipase C, X domain	Family
  PF00387	PI-PLC-Y	565 → 679	Phosphatidylinositol-specific phospholipase C, Y domain	Family
  PF00168	C2	701 → 803	C2 domain	Domain
  PF06631	DUF1154	913 → 955	Protein of unknown function (DUF1154)	Family

• Sequence:

  MAKPYEFNWQKEVPSFLQEGAVFDRYEEESFVFEPNCLFKVDEFGFFLTWRSEGKEGQVL
  ECSLINSIRSGAIPKDPKILAALEAVGKSENDLEGRIVCVCSGTDLVNISFTYMVAENPE
  VTKQWVEGLRSIIHNFRANNVSPMTCLKKHWMKLAFMTNTNGKIPVRSITRTFASGKTEK
  VIFQALKELGLPSGKNDEIEPTAFSYEKFYELTQKICPRTDIEDLFKKINGDKTDYLTVD
  QLVSFLNEHQRDPRLNEILFPFYDAKRAMQIIEMYEPDEDLKKKGLISSDGFCRYLMSDE
  NAPVFLDRLELYQEMDHPLAHYFISSSHNTYLTGRQFGGKSSVEMYRQVLLAGCRCVELD
  CWDGKGEDQEPIITHGKAMCTDILFKDVIQAIKETAFVTSEYPVILSFENHCSKYQQYKM
  SKYCEDLFGDLLLKQALESHPLEPGRALPSPNDLKRKILIKNKRLKPEVEKKQLEALRSM
  MEAGESASPANILEDDNEEEIESADQEEEAHPEFKFGNELSADDLGHKEAVANSVKKGLV
  TVEDEQAWMASYKYVGATTNIHPYLSTMINYAQPVKFQGFHVAEERNIHYNMSSFNESVG
  LGYLKTHAIEFVNYNKRQMSRIYPKGGRVDSSNYMPQIFWNAGCQMVSLNYQTPDLAMQL
  NQGKFEYNGSCGYLLKPDFMRRPDRTFDPFSETPVDGVIAATCSVQVISGQFLSDKKIGT
  YVEVDMYGLPTDTIRKEFRTRMVMNNGLNPVYNEESFVFRKVILPDLAVLRIAVYDDNNK
  LIGQRILPLDGLQAGYRHISLRNEGNKPLSLPTIFCNIVLKTYVPDGFGDIVDALSDPKK
  FLSITEKRADQMRAMGIETSDIADVPSDTSKNDKKGKANTAKANVTPQSSSELRPTTTAA
  LASGVEAKKGIELIPQVRIEDLKQMKAYLKHLKKQQKELNSLKKKHAKEHSTMQKLHCTQ
  VDKIVAQYDKEKSTHEKILEKAMKKKGGSNCLEMKKETEIKIQTLTSDHKSKVKEIVAQH
  TKEWSEMINTHSAEEQEIRDLHLSQQCELLKKLLINAHEQQTQQLKLSHDRESKEMRAHQ
  AKISMENSKAISQDKSIKNKAERERRVRELNSSNTKKFLEERKRLAMKQSKEMDQLKKVQ
  LEHLEFLEKQNEQAKEMQQMVKLEAEMDRRPATVV

• Sequence length: 1175