• Gene id: 5330

Gene Summary

• Gene Symbol: PLCB2   Gene   UCSC   Ensembl
• Aliases: PLC-beta-2
• Gene name: phospholipase C beta 2
• Alternate names: 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-2, phosphoinositide phospholipase C-beta-2,
• Gene location: 15q15.1 (40307944: 40285495)     Exons: 35     NC_000015.10
• Gene summary(Entrez): The protein encoded by this gene is a phosphodiesterase that catalyzes the hydrolysis of phosphatidylinositol 4,5-bisphosphate to the second messengers inositol 1,4,5-trisphosphate (IP3) and diacylglycerol. The encoded protein is activated by G proteins a
• OMIM: 604114

Protein Summary

• Protein general information: Q00722  
  • Name: 1 phosphatidylinositol 4,5 bisphosphate phosphodiesterase beta 2 (EC 3.1.4.11) (Phosphoinositide phospholipase C beta 2) (Phospholipase C beta 2) (PLC beta 2)
  • Length: 1185  
  • Mass: 134024
• Sequence:

  MSLLNPVLLPPKVKAYLSQGERFIKWDDETTVASPVILRVDPKGYYLYWTYQSKEMEFLDITSIRDTRFGKFAKM
  PKSQKLRDVFNMDFPDNSFLLKTLTVVSGPDMVDLTFHNFVSYKENVGKAWAEDVLALVKHPLTANASRSTFLDK
  ILVKLKMQLNSEGKIPVKNFFQMFPADRKRVEAALSACHLPKGKNDAINPEDFPEPVYKSFLMSLCPRPEIDEIF
  TSYHAKAKPYMTKEHLTKFINQKQRDSRLNSLLFPPARPDQVQGLIDKYEPSGINAQRGQLSPEGMVWFLCGPEN
  SVLAQDKLLLHHDMTQPLNHYFINSSHNTYLTAGQFSGLSSAEMYRQVLLSGCRCVELDCWKGKPPDEEPIITHG
  FTMTTDIFFKEAIEAIAESAFKTSPYPIILSFENHVDSPRQQAKMAEYCRTIFGDMLLTEPLEKFPLKPGVPLPS
  PEDLRGKILIKNKKNQFSGPTSSSKDTGGEAEGSSPPSAPAGEGTVWAGEEGTELEEEEVEEEEEEESGNLDEEE
  IKKMQSDEGTAGLEVTAYEEMSSLVNYIQPTKFVSFEFSAQKNRSYVISSFTELKAYDLLSKASVQFVDYNKRQM
  SRIYPKGTRMDSSNYMPQMFWNAGCQMVALNFQTMDLPMQQNMAVFEFNGQSGYLLKHEFMRRPDKQFNPFSVDR
  IDVVVATTLSITVISGQFLSERSVRTYVEVELFGLPGDPKRRYRTKLSPSTNSINPVWKEEPFVFEKILMPELAS
  LRVAVMEEGNKFLGHRIIPINALNSGYHHLCLHSESNMPLTMPALFIFLEMKDYIPGAWADLTVALANPIKFFSA
  HDTKSVKLKEAMGGLPEKPFPLASPVASQVNGALAPTSNGSPAARAGAREEAMKEAAEPRTASLEELRELKGVVK
  LQRRHEKELRELERRGARRWEELLQRGAAQLAELGPPGVGGVGACKLGPGKGSRKKRSLPREESAGAAPGEGPEG
  VDGRVRELKDRLELELLRQGEEQYECVLKRKEQHVAEQISKMMELAREKQAAELKALKETSENDTKEMKKKLETK
  RLERIQGMTKVTTDKMAQERLKREINNSHIQEVVQVIKQMTENLERHQEKLEEKQAACLEQIREMEKQFQKEALA
  EYEARMKGLEAEVKESVRACLRTCFPSEAKDKPERACECPPELCEQDPLIAKADAQESRL

• Structural information:
  • Protein Domains: (312..46-)
    (/note="PI-PLC-X-box)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00270-)
    (546..66-)
    (/note="PI-PLC-Y-box)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00271-)
    (662..79-)
    (/note="C2-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU-)
  • Interpro: IPR000008  IPR035892  IPR011992  IPR001192  IPR016280   IPR028403  IPR014815  IPR042531  IPR037862  IPR017946  IPR015359  IPR000909  IPR001711  
  • Prosite: PS50004 PS50007 PS50008
  • CDD: cd13361
  • PDB: 2FJU 2ZKM
  • PDBsum: 2FJU 2ZKM
  • DIP: 29259
  • STRING: ENSP00000260402
• Other Databases: GeneCards:  PLCB2  Malacards:  PLCB2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004435	phosphatidylinositol phospholipase C activity	IBA	molecular function
GO:0051209	release of sequestered calcium ion into cytosol	IBA	biological process
GO:0048015	phosphatidylinositol-mediated signaling	IBA	biological process
GO:0032959	inositol trisphosphate biosynthetic process	IBA	biological process
GO:0004435	phosphatidylinositol phospholipase C activity	IEA	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0007165	signal transduction	IEA	biological process
GO:0004629	phospholipase C activity	IEA	molecular function
GO:0006629	lipid metabolic process	IEA	biological process
GO:0008081	phosphoric diester hydrolase activity	IEA	molecular function
GO:0016042	lipid catabolic process	IEA	biological process
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0007165	signal transduction	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0016042	lipid catabolic process	IEA	biological process
GO:0004629	phospholipase C activity	TAS	molecular function
GO:0004435	phosphatidylinositol phospholipase C activity	TAS	molecular function
GO:0006644	phospholipid metabolic process	TAS	biological process
GO:0007202	activation of phospholipase C activity	TAS	biological process
GO:0004435	phosphatidylinositol phospholipase C activity	IEA	molecular function
GO:0004435	phosphatidylinositol phospholipase C activity	IMP	molecular function
GO:0007186	G protein-coupled receptor signaling pathway	TAS	biological process
GO:0007223	Wnt signaling pathway, calcium modulating pathway	TAS	biological process
GO:0004629	phospholipase C activity	TAS	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0043647	inositol phosphate metabolic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0050913	sensory perception of bitter taste	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa05200	Pathways in cancer
hsa05010	Alzheimer disease
hsa05016	Huntington disease
hsa05131	Shigellosis
hsa04015	Rap1 signaling pathway
hsa05163	Human cytomegalovirus infection
hsa04020	Calcium signaling pathway
hsa04062	Chemokine signaling pathway
hsa04310	Wnt signaling pathway
hsa04022	cGMP-PKG signaling pathway
hsa04621	NOD-like receptor signaling pathway
hsa04723	Retrograde endocannabinoid signaling
hsa05017	Spinocerebellar ataxia
hsa04261	Adrenergic signaling in cardiomyocytes
hsa04934	Cushing syndrome
hsa04072	Phospholipase D signaling pathway
hsa04921	Oxytocin signaling pathway
hsa04371	Apelin signaling pathway
hsa04728	Dopaminergic synapse
hsa04724	Glutamatergic synapse
hsa04270	Vascular smooth muscle contraction
hsa04611	Platelet activation
hsa04926	Relaxin signaling pathway
hsa04071	Sphingolipid signaling pathway
hsa04725	Cholinergic synapse
hsa04070	Phosphatidylinositol signaling system
hsa04935	Growth hormone synthesis, secretion and action
hsa04919	Thyroid hormone signaling pathway
hsa04915	Estrogen signaling pathway
hsa04726	Serotonergic synapse
hsa04922	Glucagon signaling pathway
hsa04916	Melanogenesis
hsa04713	Circadian entrainment
hsa04925	Aldosterone synthesis and secretion
hsa04928	Parathyroid hormone synthesis, secretion and action
hsa04972	Pancreatic secretion
hsa04750	Inflammatory mediator regulation of TRP channels
hsa04970	Salivary secretion
hsa04912	GnRH signaling pathway
hsa04911	Insulin secretion
hsa05142	Chagas disease
hsa04540	Gap junction
hsa04933	AGE-RAGE signaling pathway in diabetic complications
hsa00562	Inositol phosphate metabolism
hsa05146	Amoebiasis
hsa04971	Gastric acid secretion
hsa04918	Thyroid hormone synthesis
hsa04742	Taste transduction
hsa04720	Long-term potentiation
hsa04924	Renin secretion
hsa04961	Endocrine and other factor-regulated calcium reabsorption
hsa04927	Cortisol synthesis and secretion
hsa04929	GnRH secretion
hsa04730	Long-term depression
hsa04973	Carbohydrate digestion and absorption
hsa05143	African trypanosomiasis

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881