Human Gene PLCB2 (uc001zld.3) Description and Page Index
  Description: Homo sapiens phospholipase C, beta 2 (PLCB2), mRNA.
RefSeq Summary (NM_004573): 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 and has been shown to be involved in the type 2 taste receptor signal transduction pathway. In addition, nuclear factor kappa B can regulate the transcription of this gene, whose protein product is also an important regulator of platelet responses. [provided by RefSeq, Jan 2017].
Transcript (Including UTRs)
   Position: hg19 chr15:40,580,098-40,600,174 Size: 20,077 Total Exon Count: 32 Strand: -
Coding Region
   Position: hg19 chr15:40,580,916-40,599,873 Size: 18,958 Coding Exon Count: 32 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr15:40,580,098-40,600,174)mRNA (may differ from genome)Protein (1185 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHGNCHPRDLynxMGIneXtProt
OMIMPubMedReactomeStanford SOURCETreefamUniProtKB
Wikipedia

-  Comments and Description Text from UniProtKB
  ID: PLCB2_HUMAN
DESCRIPTION: RecName: Full=1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-2; EC=3.1.4.11; AltName: Full=Phosphoinositide phospholipase C-beta-2; AltName: Full=Phospholipase C-beta-2; Short=PLC-beta-2;
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.
CATALYTIC ACTIVITY: 1-phosphatidyl-1D-myo-inositol 4,5- bisphosphate + H(2)O = 1D-myo-inositol 1,4,5-trisphosphate + diacylglycerol.
COFACTOR: Binds 1 calcium ion per subunit.
SUBUNIT: Interacts with RAC1.
MISCELLANEOUS: The receptor-mediated activation of PLC-beta-2 is most effectively mediated by one G-protein alpha subunit, alpha- 16.
SIMILARITY: Contains 1 C2 domain.
SIMILARITY: Contains 1 PI-PLC X-box domain.
SIMILARITY: Contains 1 PI-PLC Y-box domain.
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/PLCB2ID41743ch15q15.html";

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): PLCB2
CDC HuGE Published Literature: PLCB2
Positive Disease Associations: Schizophrenia
Related Studies:
  1. Schizophrenia
    Stephan Ripke et al. Nature genetics 2011, Genome-wide association study identifies five new schizophrenia loci., Nature genetics. [PubMed 21926974]

-  MalaCards Disease Associations
  MalaCards Gene Search: PLCB2
Diseases sorted by gene-association score: prostate leiomyosarcoma (3)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 56.71 RPKM in Spleen
Total median expression: 272.75 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -146.10301-0.485 Picture PostScript Text
3' UTR -329.90818-0.403 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000008 - C2_Ca-dep
IPR008973 - C2_Ca/lipid-bd_dom_CaLB
IPR018029 - C2_membr_targeting
IPR011992 - EF-hand-like_dom
IPR001192 - Pinositol_PLipase_C
IPR016280 - PLC-beta
IPR014815 - PLC-beta_C
IPR017946 - PLC-like_Pdiesterase_TIM-brl
IPR015359 - PLipase_C_EF-hand-like
IPR000909 - PLipase_C_PInositol-sp_X_dom
IPR001711 - PLipase_C_Pinositol-sp_Y

Pfam Domains:
PF00168 - C2 domain
PF00387 - Phosphatidylinositol-specific phospholipase C, Y domain
PF00388 - Phosphatidylinositol-specific phospholipase C, X domain
PF08703 - PLC-beta C terminal
PF09279 - Phosphoinositide-specific phospholipase C, efhand-like

SCOP Domains:
47473 - EF-hand
49562 - C2 domain (Calcium/lipid-binding domain, CaLB)
51695 - PLC-like phosphodiesterases

Protein Data Bank (PDB) 3-D Structure
MuPIT help

2FJU
- X-ray MuPIT

2ZKM
- X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q00722
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004435 phosphatidylinositol phospholipase C activity
GO:0004629 phospholipase C activity
GO:0004871 signal transducer activity
GO:0005509 calcium ion binding
GO:0008081 phosphoric diester hydrolase activity
GO:0016787 hydrolase activity
GO:0046872 metal ion binding

Biological Process:
GO:0006629 lipid metabolic process
GO:0006644 phospholipid metabolic process
GO:0007165 signal transduction
GO:0007186 G-protein coupled receptor signaling pathway
GO:0007202 activation of phospholipase C activity
GO:0007223 Wnt signaling pathway, calcium modulating pathway
GO:0016042 lipid catabolic process
GO:0035556 intracellular signal transduction
GO:0043647 inositol phosphate metabolic process
GO:0050913 sensory perception of bitter taste

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  AK130831 - Homo sapiens cDNA FLJ27321 fis, clone TMS07849, highly similar to 1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase beta 2 (EC 3.1.4.11).
AK095454 - Homo sapiens cDNA FLJ38135 fis, clone D9OST2000869, highly similar to 1-PHOSPHATIDYLINOSITOL-4,5-BISPHOSPHATE PHOSPHODIESTERASE BETA 2 (EC 3.1.4.11).
AB209583 - Homo sapiens mRNA for phospholipase C, beta 2 variant protein.
M95678 - Homo sapiens phospholipase C-beta-2 mRNA, complete cds.
JD422742 - Sequence 403766 from Patent EP1572962.
JD302266 - Sequence 283290 from Patent EP1572962.
BC136467 - Homo sapiens phospholipase C, beta 2, mRNA (cDNA clone MGC:168079 IMAGE:9020456), complete cds.
JD483856 - Sequence 464880 from Patent EP1572962.
JD291559 - Sequence 272583 from Patent EP1572962.
JD431183 - Sequence 412207 from Patent EP1572962.
JD541796 - Sequence 522820 from Patent EP1572962.
JD540022 - Sequence 521046 from Patent EP1572962.
JD326579 - Sequence 307603 from Patent EP1572962.
JD130538 - Sequence 111562 from Patent EP1572962.
AK291657 - Homo sapiens cDNA FLJ78665 complete cds, highly similar to Homo sapiens phospholipase C, beta 2 (PLCB2), mRNA.
JD493788 - Sequence 474812 from Patent EP1572962.
JD195538 - Sequence 176562 from Patent EP1572962.
JD205961 - Sequence 186985 from Patent EP1572962.
BC009009 - Homo sapiens phospholipase C, beta 2, mRNA (cDNA clone IMAGE:3446252), complete cds.
BC000939 - Homo sapiens phospholipase C, beta 2, mRNA (cDNA clone IMAGE:3449689), complete cds.
BT006905 - Homo sapiens phospholipase C, beta 2 mRNA, complete cds.
CU674468 - Synthetic construct Homo sapiens gateway clone IMAGE:100018540 5' read PLCB2 mRNA.
JD555776 - Sequence 536800 from Patent EP1572962.
JD402505 - Sequence 383529 from Patent EP1572962.
JD521545 - Sequence 502569 from Patent EP1572962.
JD399051 - Sequence 380075 from Patent EP1572962.
JD477052 - Sequence 458076 from Patent EP1572962.
JD457059 - Sequence 438083 from Patent EP1572962.
JD442882 - Sequence 423906 from Patent EP1572962.
JD257189 - Sequence 238213 from Patent EP1572962.
JD338217 - Sequence 319241 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00562 - Inositol phosphate metabolism
hsa01100 - Metabolic pathways
hsa04020 - Calcium signaling pathway
hsa04062 - Chemokine signaling pathway
hsa04070 - Phosphatidylinositol signaling system
hsa04270 - Vascular smooth muscle contraction
hsa04310 - Wnt signaling pathway
hsa04540 - Gap junction
hsa04720 - Long-term potentiation
hsa04730 - Long-term depression
hsa04742 - Taste transduction
hsa04912 - GnRH signaling pathway
hsa04916 - Melanogenesis
hsa05010 - Alzheimer's disease
hsa05016 - Huntington's disease
hsa05142 - Chagas disease

BioCyc Knowledge Library
LIPASYN-PWY - phospholipases
PWY-6351 - D-myo-inositol (1,4,5)-trisphosphate biosynthesis
PWY-6367 - D-myo-inositol-5-phosphate metabolism
PWY3DJ-219 - PIP metabolism

Reactome (by CSHL, EBI, and GO)

Protein Q00722 (Reactome details) participates in the following event(s):

R-HSA-111870 Activation of PLC beta-1/4
R-HSA-398188 PLC beta is activated by G alpha (q)
R-HSA-112037 Inactivation of PLC beta
R-HSA-398040 Gbeta:gamma activation of PLC beta
R-HSA-400023 Gq alpha activates Phospholipase C beta
R-HSA-500717 Activation of GRIK3 homomer
R-HSA-1855177 PI(4,5)P2 is hydrolysed to I(1,4,5)P3 and DAG by cytosolic PLC[2] at the plasma membrane
R-HSA-111879 PIP2 hydrolysis
R-HSA-114688 PLC-beta hydrolyses PIP2 to DAG and IP3
R-HSA-398193 PLC beta-mediated PIP2 hydrolysis
R-HSA-399998 Activated Phospholipase C beta-1 hydrolyzes 1-Phosphatidyl-D-myo-inositol 4,5-bisphosphate
R-HSA-112043 PLC beta mediated events
R-HSA-416476 G alpha (q) signalling events
R-HSA-418217 G beta:gamma signalling through PLC beta
R-HSA-4086398 Ca2+ pathway
R-HSA-399997 Acetylcholine regulates insulin secretion
R-HSA-434316 Fatty Acids bound to GPR40 (FFAR1) regulate insulin secretion
R-HSA-112040 G-protein mediated events
R-HSA-388396 GPCR downstream signalling
R-HSA-500657 Presynaptic function of Kainate receptors
R-HSA-397795 G-protein beta:gamma signalling
R-HSA-3858494 Beta-catenin independent WNT signaling
R-HSA-422356 Regulation of insulin secretion
R-HSA-400451 Free fatty acids regulate insulin secretion
R-HSA-1855204 Synthesis of IP3 and IP4 in the cytosol
R-HSA-111885 Opioid Signalling
R-HSA-372790 Signaling by GPCR
R-HSA-451326 Activation of kainate receptors upon glutamate binding
R-HSA-195721 Signaling by WNT
R-HSA-163685 Energy Metabolism
R-HSA-1483249 Inositol phosphate metabolism
R-HSA-418594 G alpha (i) signalling events
R-HSA-162582 Signal Transduction
R-HSA-112314 Neurotransmitter receptors and postsynaptic signal transmission
R-HSA-1430728 Metabolism
R-HSA-112315 Transmission across Chemical Synapses
R-HSA-112316 Neuronal System

-  Other Names for This Gene
  Alternate Gene Symbols: A8K6J2, NM_004573, NP_004564, PLCB2_HUMAN, Q00722
UCSC ID: uc001zld.3
RefSeq Accession: NM_004573
Protein: Q00722 (aka PLCB2_HUMAN or PIB2_HUMAN)
CCDS: CCDS42020.1, CCDS61591.1, CCDS61592.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_004573.2
exon count: 32CDS single in 3' UTR: no RNA size: 4694
ORF size: 3558CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 7189.00frame shift in genome: no % Coverage: 99.64
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.