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PLCB2 phospholipase C beta 2 [ Homo sapiens (human) ]

Gene ID: 5330, updated on 4-Oct-2020

Summary

Official Symbol
PLCB2provided by HGNC
Official Full Name
phospholipase C beta 2provided by HGNC
Primary source
HGNC:HGNC:9055
See related
Ensembl:ENSG00000137841 MIM:604114
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PLC-beta-2
Summary
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]
Expression
Broad expression in spleen (RPKM 26.9), bone marrow (RPKM 19.8) and 17 other tissues See more
Orthologs

Genomic context

See PLCB2 in Genome Data Viewer
Location:
15q15.1
Exon count:
35
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (40285496..40307945, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (40576461..40600174, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene BUB1B-PAK6 readthrough Neighboring gene p21 (RAC1) activated kinase 6 Neighboring gene chromosome 15 putative open reading frame 56 Neighboring gene ankyrin repeat domain 63 Neighboring gene uncharacterized LOC112268152 Neighboring gene ribosomal protein lateral stalk subunit P0 pseudogene 10 Neighboring gene InaF motif containing 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Biological insights from 108 schizophrenia-associated genetic loci.
GeneReviews: Not available
Genome-wide association study identifies five new schizophrenia loci.
GeneReviews: Not available

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env PLC-beta activation and intracellular Ca2+ release are required for HIV-1 mediated Rac-1 activation and membrane fusion via the G-alpha(q/11) family of G proteins PubMed
env HIV-1 envelope glycoproteins gp120 and gp160 directly and specifically impair the CD3/TcR-mediated activation of phospholipase C (PLC) via the CD4 molecule in uninfected T cells PubMed
Tat tat Phospholipase C/protein kinase C pathway-dependent phosphorylation of p44/42 and JNK MAP kinases is partially involved in IL-1beta induction by HIV-1 Tat PubMed
tat HIV-1 Tat induces release of calcium and TNF-alpha production, an effect mediated at least in part by activation of phospholipase C PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ38135

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
phosphatidylinositol phospholipase C activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylinositol phospholipase C activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
phospholipase C activity TAS
Traceable Author Statement
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
 
Wnt signaling pathway, calcium modulating pathway TAS
Traceable Author Statement
more info
 
activation of phospholipase C activity TAS
Traceable Author Statement
more info
PubMed 
inositol phosphate metabolic process TAS
Traceable Author Statement
more info
 
lipid catabolic process IEA
Inferred from Electronic Annotation
more info
 
phosphatidylinositol-mediated signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phospholipid metabolic process TAS
Traceable Author Statement
more info
PubMed 
sensory perception of bitter taste IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-2
Names
phosphoinositide phospholipase C-beta-2
NP_001271226.1
NP_001271227.1
NP_001271228.1
NP_004564.2
XP_016877803.1
XP_016877806.1
XP_016877808.1
XP_024305716.1
XP_024305717.1
XP_024305718.1
XP_024305719.1
XP_024305720.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_052867.1 RefSeqGene

    Range
    5039..25065
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001284297.2NP_001271226.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-2 isoform 2

    See identical proteins and their annotated locations for NP_001271226.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AB209583, DA981116, M95678
    Consensus CDS
    CCDS61592.1
    UniProtKB/Swiss-Prot
    Q00722
    UniProtKB/TrEMBL
    Q59F77
    Related
    ENSP00000453975.1, ENST00000557821.5
    Conserved Domains (8) summary
    cd00275
    Location:677798
    C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
    cd08624
    Location:311645
    PI-PLCc_beta2; Catalytic domain of metazoan phosphoinositide-specific phospholipase C-beta2
    PLN02228
    Location:217782
    PLN02228; Phosphoinositide phospholipase C
    cd13361
    Location:17144
    PH_PLC_beta; Phospholipase C-beta (PLC-beta) pleckstrin homology (PH) domain
    pfam08703
    Location:9741149
    PLC-beta_C; PLC-beta C terminal
    pfam09279
    Location:220311
    EF-hand_like; Phosphoinositide-specific phospholipase C, efhand-like
    cd16269
    Location:11001110
    GBP_C; coiled coil [structural motif]
    cl20817
    Location:9901119
    GBP_C; Guanylate-binding protein, C-terminal domain
  2. NM_001284298.2NP_001271227.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-2 isoform 3

    See identical proteins and their annotated locations for NP_001271227.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
    Source sequence(s)
    AB209583, BC136467, DA981116
    Consensus CDS
    CCDS61591.1
    UniProtKB/Swiss-Prot
    Q00722
    UniProtKB/TrEMBL
    Q59F77
    Related
    ENSP00000411991.2, ENST00000456256.6
    Conserved Domains (8) summary
    cd00275
    Location:681802
    C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
    cd08624
    Location:311649
    PI-PLCc_beta2; Catalytic domain of metazoan phosphoinositide-specific phospholipase C-beta2
    PLN02228
    Location:217786
    PLN02228; Phosphoinositide phospholipase C
    cd13361
    Location:17144
    PH_PLC_beta; Phospholipase C-beta (PLC-beta) pleckstrin homology (PH) domain
    pfam08703
    Location:9631138
    PLC-beta_C; PLC-beta C terminal
    pfam09279
    Location:220311
    EF-hand_like; Phosphoinositide-specific phospholipase C, efhand-like
    cd16269
    Location:10891099
    GBP_C; coiled coil [structural motif]
    cl20817
    Location:9791108
    GBP_C; Guanylate-binding protein, C-terminal domain
  3. NM_001284299.2NP_001271228.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-2 isoform 4

    See identical proteins and their annotated locations for NP_001271228.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks multiple 3' coding exons and contains an alternate 3' terminal exon, resulting in a distinct 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (4) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC020658, BC009009, DA981116
    Consensus CDS
    CCDS73704.1
    UniProtKB/TrEMBL
    Q9BVT6
    Related
    ENSP00000444652.2, ENST00000543785.3
    Conserved Domains (1) summary
    cd13361
    Location:17144
    PH_PLC_beta; Phospholipase C-beta (PLC-beta) pleckstrin homology (PH) domain
  4. NM_004573.3NP_004564.2  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-2 isoform 1

    See identical proteins and their annotated locations for NP_004564.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AB209583, BU147302, DA981116, M95678
    Consensus CDS
    CCDS42020.1
    UniProtKB/Swiss-Prot
    Q00722
    UniProtKB/TrEMBL
    Q59F77
    Related
    ENSP00000260402.3, ENST00000260402.8
    Conserved Domains (8) summary
    cd00275
    Location:681802
    C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
    cd08624
    Location:311649
    PI-PLCc_beta2; Catalytic domain of metazoan phosphoinositide-specific phospholipase C-beta2
    PLN02228
    Location:217786
    PLN02228; Phosphoinositide phospholipase C
    cd13361
    Location:17144
    PH_PLC_beta; Phospholipase C-beta (PLC-beta) pleckstrin homology (PH) domain
    pfam08703
    Location:9781153
    PLC-beta_C; PLC-beta C terminal
    pfam09279
    Location:220311
    EF-hand_like; Phosphoinositide-specific phospholipase C, efhand-like
    cd16269
    Location:11041114
    GBP_C; coiled coil [structural motif]
    cl20817
    Location:9941123
    GBP_C; Guanylate-binding protein, C-terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

    Range
    40285496..40307945 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017022319.2XP_016877808.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-2 isoform X8

  2. XM_024449948.1XP_024305716.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-2 isoform X1

    Conserved Domains (5) summary
    cd00275
    Location:694815
    C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
    cd08624
    Location:311662
    PI-PLCc_beta2; Catalytic domain of metazoan phosphoinositide-specific phospholipase C-beta2
    cd13361
    Location:17144
    PH_PLC_beta; Phospholipase C-beta (PLC-beta) pleckstrin homology (PH) domain
    pfam08703
    Location:9911176
    PLC-beta_C; PLC-beta C terminal
    cd16209
    Location:149299
    EFh_PI-PLCbeta2; EF-hand motif found in phosphoinositide phospholipase C beta 2 (PI-PLC-beta2)
  3. XM_024449950.1XP_024305718.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-2 isoform X4

    Conserved Domains (5) summary
    cd00275
    Location:690811
    C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
    cd08624
    Location:311658
    PI-PLCc_beta2; Catalytic domain of metazoan phosphoinositide-specific phospholipase C-beta2
    cd13361
    Location:17144
    PH_PLC_beta; Phospholipase C-beta (PLC-beta) pleckstrin homology (PH) domain
    pfam08703
    Location:9871172
    PLC-beta_C; PLC-beta C terminal
    cd16209
    Location:149299
    EFh_PI-PLCbeta2; EF-hand motif found in phosphoinositide phospholipase C beta 2 (PI-PLC-beta2)
  4. XM_024449951.1XP_024305719.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-2 isoform X6

    Conserved Domains (5) summary
    cd00275
    Location:681802
    C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
    cd08624
    Location:311649
    PI-PLCc_beta2; Catalytic domain of metazoan phosphoinositide-specific phospholipase C-beta2
    cd13361
    Location:17144
    PH_PLC_beta; Phospholipase C-beta (PLC-beta) pleckstrin homology (PH) domain
    pfam08703
    Location:9781163
    PLC-beta_C; PLC-beta C terminal
    cd16209
    Location:149299
    EFh_PI-PLCbeta2; EF-hand motif found in phosphoinositide phospholipase C beta 2 (PI-PLC-beta2)
  5. XM_024449952.1XP_024305720.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-2 isoform X7

    Conserved Domains (5) summary
    cd00275
    Location:694815
    C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
    cd08624
    Location:311662
    PI-PLCc_beta2; Catalytic domain of metazoan phosphoinositide-specific phospholipase C-beta2
    cd13361
    Location:17144
    PH_PLC_beta; Phospholipase C-beta (PLC-beta) pleckstrin homology (PH) domain
    pfam08703
    Location:9761161
    PLC-beta_C; PLC-beta C terminal
    cd16209
    Location:149299
    EFh_PI-PLCbeta2; EF-hand motif found in phosphoinositide phospholipase C beta 2 (PI-PLC-beta2)
  6. XM_024449949.1XP_024305717.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-2 isoform X2

    Conserved Domains (5) summary
    cd00275
    Location:694815
    C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
    cd08624
    Location:311662
    PI-PLCc_beta2; Catalytic domain of metazoan phosphoinositide-specific phospholipase C-beta2
    cd13361
    Location:17144
    PH_PLC_beta; Phospholipase C-beta (PLC-beta) pleckstrin homology (PH) domain
    pfam08703
    Location:9901175
    PLC-beta_C; PLC-beta C terminal
    cd16209
    Location:149299
    EFh_PI-PLCbeta2; EF-hand motif found in phosphoinositide phospholipase C beta 2 (PI-PLC-beta2)
  7. XM_017022317.2XP_016877806.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-2 isoform X5

  8. XM_017022314.2XP_016877803.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-2 isoform X3

RNA

  1. XR_001751315.2 RNA Sequence

  2. XR_001751317.2 RNA Sequence

  3. XR_001751316.2 RNA Sequence

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