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    PLCH2 phospholipase C eta 2 [ Homo sapiens (human) ]

    Gene ID: 9651, updated on 3-Oct-2018

    Summary

    Official Symbol
    PLCH2provided by HGNC
    Official Full Name
    phospholipase C eta 2provided by HGNC
    Primary source
    HGNC:HGNC:29037
    See related
    Ensembl:ENSG00000149527 MIM:612836; Vega:OTTHUMG00000000719
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PLCL4; PLC-L4; PLCeta2; PLC-eta2
    Summary
    PLCH2 is a member of the PLC-eta family of the phosphoinositide-specific phospholipase C (PLC) superfamily of enzymes that cleave PtdIns(4,5) P2 to generate second messengers inositol 1,4,5-trisphosphate and diacylglycerol (Zhou et al., 2005 [PubMed 16107206]).[supplied by OMIM, Jun 2009]
    Expression
    Biased expression in skin (RPKM 13.2), brain (RPKM 3.0) and 10 other tissues See more
    Orthologs

    Genomic context

    See PLCH2 in Genome Data Viewer
    Location:
    1p36.32
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (2412481..2505530)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (2407754..2436964)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene MORN repeat containing 1 Neighboring gene small nuclear ribonucleoprotein polypeptide N pseudogene Neighboring gene retention in endoplasmic reticulum sorting receptor 1 Neighboring gene peroxisomal biogenesis factor 10 Neighboring gene pantothenate kinase 4 Neighboring gene hes family bHLH transcription factor 5

    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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    A genome-wide association study in Chinese men identifies three risk loci for non-obstructive azoospermia.
    NHGRI GWA Catalog
    Biological insights from 108 schizophrenia-associated genetic loci.
    NHGRI GWA Catalog
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    NHGRI GWA Catalog
    Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.
    NHGRI GWA Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 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

    Go to the HIV-1, Human Interaction Database

    Pathways from BioSystems

    General gene information

    Markers

    Homology

    Clone Names

    • RP3-395M20.1

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    molecular_function ND
    No biological Data available
    more info
     
    phosphatidylinositol phospholipase C activity TAS
    Traceable Author Statement
    more info
     
    phospholipase C activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    biological_process ND
    No biological Data available
    more info
     
    inositol phosphate metabolic process TAS
    Traceable Author Statement
    more info
     
    intracellular signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    lipid catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    phosphatidylinositol metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cellular_component ND
    No biological Data available
    more info
     
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-2
    Names
    phosphoinositide phospholipase C-eta-2
    phosphoinositide phospholipase C-like 4
    phospholipase C-eta2
    phospholipase C-like 4
    phospholipase C-like protein 4
    NP_001289941.1
    NP_001289942.1
    NP_055453.2
    XP_016858359.1
    XP_016858361.1
    XP_016858362.1
    XP_016858363.1
    XP_024306826.1
    XP_024306827.1
    XP_024306828.1
    XP_024306829.1
    XP_024306830.1
    XP_024306831.1
    XP_024306832.1

    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.

    mRNA and Protein(s)

    1. NM_001303012.1NP_001289941.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-2 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate 5'-terminal exon, uses an alternate start codon, and uses an alternate splice site in the 3' coding region, which results in a frameshift compared to variant 1. The encoded isoform (2) has shorter and distinct N- and C-termini, compared to isoform 1.
      Source sequence(s)
      AB007919, BM971622
      UniProtKB/Swiss-Prot
      O75038
      Related
      ENSP00000397289.1, OTTHUMP00000272129, ENST00000449969.5, OTTHUMT00000001798
      Conserved Domains (7) summary
      cd00275
      Location:730855
      C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
      cd08633
      Location:298700
      PI-PLCc_eta2; Catalytic domain of metazoan phosphoinositide-specific phospholipase C-eta2
      PLN02952
      Location:215840
      PLN02952; phosphoinositide phospholipase C
      cd00051
      Location:146212
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      cd13364
      Location:22128
      PH_PLC_eta; Phospholipase C-eta (PLC-eta) pleckstrin homology (PH) domain
      pfam09279
      Location:216298
      EF-hand_like; Phosphoinositide-specific phospholipase C, efhand-like
      pfam13499
      Location:147208
      EF-hand_7; EF-hand domain pair
    2. NM_001303013.1NP_001289942.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-2 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in its 5' UTR, uses an alternate start codon, and uses an alternate splice site in the 3' coding region, which results in a frameshift compared to variant 1. The encoded isoform (3) has shorter and distinct N- and C-termini, compared to isoform 1.
      Source sequence(s)
      AL139246, BC043358, BC144620, BM971622, DQ176850
      UniProtKB/Swiss-Prot
      O75038
      Conserved Domains (7) summary
      cd00275
      Location:777902
      C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
      cd08633
      Location:345747
      PI-PLCc_eta2; Catalytic domain of metazoan phosphoinositide-specific phospholipase C-eta2
      PLN02952
      Location:262887
      PLN02952; phosphoinositide phospholipase C
      cd00051
      Location:193259
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      cd13364
      Location:69175
      PH_PLC_eta; Phospholipase C-eta (PLC-eta) pleckstrin homology (PH) domain
      pfam09279
      Location:263345
      EF-hand_like; Phosphoinositide-specific phospholipase C, efhand-like
      pfam13499
      Location:194255
      EF-hand_7; EF-hand domain pair
    3. NM_014638.3NP_055453.2  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-2 isoform 1

      See identical proteins and their annotated locations for NP_055453.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      BC043358, BX117873, DQ176850
      Consensus CDS
      CCDS59959.1
      UniProtKB/Swiss-Prot
      O75038
      Related
      ENSP00000367747.3, ENST00000378486.7
      Conserved Domains (7) summary
      cd00275
      Location:757882
      C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
      cd08633
      Location:325727
      PI-PLCc_eta2; Catalytic domain of metazoan phosphoinositide-specific phospholipase C-eta2
      PLN02952
      Location:242867
      PLN02952; phosphoinositide phospholipase C
      cd00051
      Location:173239
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      cd13364
      Location:49155
      PH_PLC_eta; Phospholipase C-eta (PLC-eta) pleckstrin homology (PH) domain
      pfam09279
      Location:243325
      EF-hand_like; Phosphoinositide-specific phospholipase C, efhand-like
      pfam13499
      Location:174235
      EF-hand_7; EF-hand domain pair

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

      Range
      2412481..2505530
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024451062.1XP_024306830.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-2 isoform X7

      Conserved Domains (6) summary
      cd00275
      Location:8521062
      C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
      cd08633
      Location:420822
      PI-PLCc_eta2; Catalytic domain of metazoan phosphoinositide-specific phospholipase C-eta2
      cd13364
      Location:144250
      PH_PLC_eta; Phospholipase C-eta (PLC-eta) pleckstrin homology (PH) domain
      pfam15279
      Location:4697
      SOBP; Sine oculis-binding protein
      cd16221
      Location:268408
      EFh_PI-PLCeta2; EF-hand motif found in phosphoinositide phospholipase C eta 2 (PI-PLC-eta2)
      cl26464
      Location:10911268
      Atrophin-1; Atrophin-1 family
    2. XM_024451059.1XP_024306827.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-2 isoform X3

      Conserved Domains (5) summary
      cd00275
      Location:8521062
      C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
      cd08633
      Location:420822
      PI-PLCc_eta2; Catalytic domain of metazoan phosphoinositide-specific phospholipase C-eta2
      cd13364
      Location:144250
      PH_PLC_eta; Phospholipase C-eta (PLC-eta) pleckstrin homology (PH) domain
      pfam15279
      Location:4697
      SOBP; Sine oculis-binding protein
      cd16221
      Location:268408
      EFh_PI-PLCeta2; EF-hand motif found in phosphoinositide phospholipase C eta 2 (PI-PLC-eta2)
    3. XM_017002870.1XP_016858359.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-2 isoform X2

    4. XM_024451064.1XP_024306832.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-2 isoform X10

      Conserved Domains (5) summary
      cd00275
      Location:852977
      C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
      cd08633
      Location:420822
      PI-PLCc_eta2; Catalytic domain of metazoan phosphoinositide-specific phospholipase C-eta2
      cd13364
      Location:144250
      PH_PLC_eta; Phospholipase C-eta (PLC-eta) pleckstrin homology (PH) domain
      pfam15279
      Location:4697
      SOBP; Sine oculis-binding protein
      cd16221
      Location:268408
      EFh_PI-PLCeta2; EF-hand motif found in phosphoinositide phospholipase C eta 2 (PI-PLC-eta2)
    5. XM_017002872.1XP_016858361.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-2 isoform X5

    6. XM_017002874.1XP_016858363.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-2 isoform X9

    7. XM_017002873.1XP_016858362.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-2 isoform X6

    8. XM_024451063.1XP_024306831.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-2 isoform X8

      Conserved Domains (5) summary
      cd00275
      Location:8521062
      C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
      cd08633
      Location:420822
      PI-PLCc_eta2; Catalytic domain of metazoan phosphoinositide-specific phospholipase C-eta2
      cd13364
      Location:144250
      PH_PLC_eta; Phospholipase C-eta (PLC-eta) pleckstrin homology (PH) domain
      pfam15279
      Location:4697
      SOBP; Sine oculis-binding protein
      cd16221
      Location:268408
      EFh_PI-PLCeta2; EF-hand motif found in phosphoinositide phospholipase C eta 2 (PI-PLC-eta2)
    9. XM_024451061.1XP_024306829.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-2 isoform X4

      Conserved Domains (5) summary
      cd00275
      Location:754964
      C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
      cd08633
      Location:322724
      PI-PLCc_eta2; Catalytic domain of metazoan phosphoinositide-specific phospholipase C-eta2
      cd13364
      Location:46152
      PH_PLC_eta; Phospholipase C-eta (PLC-eta) pleckstrin homology (PH) domain
      cd16221
      Location:170310
      EFh_PI-PLCeta2; EF-hand motif found in phosphoinositide phospholipase C eta 2 (PI-PLC-eta2)
      cl26464
      Location:10641487
      Atrophin-1; Atrophin-1 family
    10. XM_024451060.1XP_024306828.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-2 isoform X4

      Conserved Domains (5) summary
      cd00275
      Location:754964
      C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
      cd08633
      Location:322724
      PI-PLCc_eta2; Catalytic domain of metazoan phosphoinositide-specific phospholipase C-eta2
      cd13364
      Location:46152
      PH_PLC_eta; Phospholipase C-eta (PLC-eta) pleckstrin homology (PH) domain
      cd16221
      Location:170310
      EFh_PI-PLCeta2; EF-hand motif found in phosphoinositide phospholipase C eta 2 (PI-PLC-eta2)
      cl26464
      Location:10641487
      Atrophin-1; Atrophin-1 family
    11. XM_024451058.1XP_024306826.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-2 isoform X1

      Conserved Domains (5) summary
      cd00275
      Location:8441054
      C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
      cd08633
      Location:412814
      PI-PLCc_eta2; Catalytic domain of metazoan phosphoinositide-specific phospholipase C-eta2
      cd13364
      Location:136242
      PH_PLC_eta; Phospholipase C-eta (PLC-eta) pleckstrin homology (PH) domain
      cd16221
      Location:260400
      EFh_PI-PLCeta2; EF-hand motif found in phosphoinositide phospholipase C eta 2 (PI-PLC-eta2)
      cl26464
      Location:11541577
      Atrophin-1; Atrophin-1 family

    Reference GRCh38.p12 ALT_REF_LOCI_1

    Genomic

    1. NT_187515.1 Reference GRCh38.p12 ALT_REF_LOCI_1

      Range
      18649..56720
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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