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

    Gene ID: 5330, updated on 5-Jan-2022

    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
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    Genomic context

    See PLCB2 in Genome Data Viewer
    Location:
    15q15.1
    Exon count:
    35
    Annotation release Status Assembly Chr Location
    109.20211119 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (40285496..40307945, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (40580110..40600136, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene BUB1B-PAK6 readthrough Neighboring gene p21 (RAC1) activated kinase 6 Neighboring gene PAK6 antisense RNA 1 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

    EBI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog
    Genome-wide association study identifies five new schizophrenia loci.
    EBI GWAS Catalog

    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
    enables G-protein beta/gamma-subunit complex binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables phosphatidylinositol phospholipase C activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables phosphatidylinositol phospholipase C activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables phosphatidylinositol phospholipase C activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables phosphatidylinositol phospholipase C activity TAS
    Traceable Author Statement
    more info
     
    enables phospholipase C activity TAS
    Traceable Author Statement
    more info
     
    enables phospholipid binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of G-protein beta/gamma-subunit complex IEA
    Inferred from Electronic Annotation
    more info
     
    located_in Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    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)

    NEW Try the new Transcript table

    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 109.20211119

    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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