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    PLCL2 phospholipase C like 2 [ Homo sapiens (human) ]

    Gene ID: 23228, updated on 2-Nov-2024

    Summary

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    Official Symbol
    PLCL2provided by HGNC
    Official Full Name
    phospholipase C like 2provided by HGNC
    Primary source
    HGNC:HGNC:9064
    See related
    Ensembl:ENSG00000154822 MIM:614276; AllianceGenome:HGNC:9064
    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
    PLCE2
    Summary
    Enables GABA receptor binding activity. Predicted to be involved in gamma-aminobutyric acid signaling pathway; negative regulation of cold-induced thermogenesis; and regulation of GABAergic synaptic transmission. Predicted to act upstream of or within B cell proliferation involved in immune response; B-1a B cell differentiation; and negative regulation of B cell receptor signaling pathway. Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in ovary (RPKM 4.0), lymph node (RPKM 3.4) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PLCL2 in Genome Data Viewer
    Location:
    3p24.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (16884955..17090606)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (16803899..17092796)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (16926448..17132098)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene chromodomain Y-like protein Neighboring gene NANOG hESC enhancer GRCh37_chr3:16738083-16738584 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19553 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:16739803-16740450 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:16791041-16791542 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:16810328-16810902 Neighboring gene CDYL pseudogene 1 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr3:16830630-16831603 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19554 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19555 Neighboring gene uncharacterized LOC105376972 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:16924592-16925300 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14120 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:16926303-16926804 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:16926805-16927304 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19556 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19557 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14122 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19558 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19559 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:17041383-17041908 Neighboring gene microRNA 3714 Neighboring gene Sharpr-MPRA regulatory region 1410 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19561 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19560 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:17080505-17081704 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19562 Neighboring gene PLCL2 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19563 Neighboring gene Sharpr-MPRA regulatory region 1226 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_66731 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19564 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:17192997-17193498 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:17194853-17195024 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:17199910-17200410 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:17200411-17200911 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:17211116-17211616 Neighboring gene NANOG hESC enhancer GRCh37_chr3:17217563-17218064 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19567 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14123 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19568 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14124 Neighboring gene Sharpr-MPRA regulatory region 10783 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19569 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19570 Neighboring gene TBC1 domain family member 5 Neighboring gene MPRA-validated peak4551 silencer Neighboring gene RBIS pseudogene 6 Neighboring gene Sharpr-MPRA regulatory region 9690 Neighboring gene ribosomal protein L31 pseudogene 19

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Two Novel SNPs in the PLCL2 Gene Associated with Large Artery Atherosclerotic Stroke Identified by Fine-Mapping. Huang X, et al. J Mol Neurosci, 2020 Apr. PMID 31970634
    2. Identification and characterization of a new phospholipase C-like protein, PLC-L(2). Otsuki M, et al. Biochem Biophys Res Commun, 1999 Dec 9. PMID 10581172
    3. [Functional Hypermethylation of ALDH1L1, PLCL2, and PPP2R3A in Colon Cancer]. Dmitriev AA, et al. Mol Biol (Mosk), 2020 Mar-Apr. PMID 32392189
    4. Identification of NF-κB and PLCL2 as new susceptibility genes and highlights on a potential role of IRF8 through interferon signature modulation in systemic sclerosis. Arismendi M, et al. Arthritis Res Ther, 2015 Mar 21. PMID 25880423, Free PMC Article
    5. Phospholipase C-related Catalytically Inactive Protein Is a New Modulator of Thermogenesis Promoted by β-Adrenergic Receptors in Brown Adipocytes. Oue K, et al. J Biol Chem, 2016 Feb 19. PMID 26706316, Free PMC Article

    See all (29) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Two Novel SNPs in the PLCL2 Gene Associated with Large Artery Atherosclerotic Stroke Identified by Fine-Mapping.
      Title: Two Novel SNPs in the PLCL2 Gene Associated with Large Artery Atherosclerotic Stroke Identified by Fine-Mapping.
    2. [Functional Hypermethylation of ALDH1L1, PLCL2, and PPP2R3A in Colon Cancer].
      Title: [Functional Hypermethylation of ALDH1L1, PLCL2, and PPP2R3A in Colon Cancer].
    3. PLCL2 was identified as a new susceptibility gene for systemic sclerosis.
      Title: Identification of NF-κB and PLCL2 as new susceptibility genes and highlights on a potential role of IRF8 through interferon signature modulation in systemic sclerosis.
    4. A genome-wide association study identifies PLCL2 and AP3D1-DOT1L-SF3A2 as new susceptibility loci for myocardial infarction in Japanese
      Title: A genome-wide association study identifies PLCL2 and AP3D1-DOT1L-SF3A2 as new susceptibility loci for myocardial infarction in Japanese.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants at CD28, PRDM1 and CD2/CD58 are associated with rheumatoid arthritis risk.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies PLCL2 and AP3D1-DOT1L-SF3A2 as new susceptibility loci for myocardial infarction in Japanese.
    EBI GWAS Catalog
    Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
    EBI GWAS Catalog
    Genetics of rheumatoid arthritis contributes to biology and drug discovery.
    EBI GWAS Catalog
    Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ13484, KIAA1092

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GABA receptor binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables inositol 1,4,5 trisphosphate binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phosphatidylinositol phospholipase C activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in B cell proliferation involved in immune response IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in B-1a B cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in gamma-aminobutyric acid signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in intracellular signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in lipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of B cell receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of cold-induced thermogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in regulation of synaptic transmission, GABAergic IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    inactive phospholipase C-like protein 2
    Names
    PLC-L(2)
    PLC-L2
    PLC-epsilon-2
    phospholipase C-L2
    phospholipase C-epsilon-2

    NCBI Reference Sequences (RefSeq)

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    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_001144382.2 → NP_001137854.1  inactive phospholipase C-like protein 2 isoform 1

      See identical proteins and their annotated locations for NP_001137854.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AB029015, AEKP01168581, N93050
      Consensus CDS
      CCDS74911.1
      UniProtKB/Swiss-Prot
      A8K5V4, Q8N498, Q9H8L0, Q9UFP9, Q9UPR0
      Related
      ENSP00000478458.1, ENST00000615277.5
      Conserved Domains (4) summary
      cd00275
      Location:753 → 881
      C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
      cd08597
      Location:425 → 721
      PI-PLCc_PRIP_metazoa; Catalytic domain of metazoan phospholipase C related, but catalytically inactive protein
      cd13364
      Location:143 → 251
      PH_PLC_eta; Phospholipase C-eta (PLC-eta) pleckstrin homology (PH) domain
      cd16223
      Location:271 → 414
      EFh_PRIP2; EF-hand motif found in phospholipase C-related but catalytically inactive protein 2 (PRIP-2)

    2. NM_015184.5 → NP_055999.2  inactive phospholipase C-like protein 2 isoform 2

      See identical proteins and their annotated locations for NP_055999.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) represents use of an alternate promoter and uses a downstream start codon, compared to variant 1. The resulting isoform (2) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AB029015, BC036392, N93050
      Consensus CDS
      CCDS33713.1
      UniProtKB/Swiss-Prot
      Q9UPR0
      Related
      ENSP00000412836.1, ENST00000432376.5
      Conserved Domains (4) summary
      cd00275
      Location:627 → 755
      C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
      cd08597
      Location:299 → 595
      PI-PLCc_PRIP_metazoa; Catalytic domain of metazoan phospholipase C related, but catalytically inactive protein
      cd13364
      Location:17 → 125
      PH_PLC_eta; Phospholipase C-eta (PLC-eta) pleckstrin homology (PH) domain
      cd16223
      Location:145 → 288
      EFh_PRIP2; EF-hand motif found in phospholipase C-related but catalytically inactive protein 2 (PRIP-2)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      16884955..17090606
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047447799.1 → XP_047303755.1  inactive phospholipase C-like protein 2 isoform X1

    2. XM_017006025.2 → XP_016861514.1  inactive phospholipase C-like protein 2 isoform X3

      UniProtKB/Swiss-Prot
      Q9UPR0
      Conserved Domains (4) summary
      cd00275
      Location:627 → 755
      C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
      cd08597
      Location:299 → 595
      PI-PLCc_PRIP_metazoa; Catalytic domain of metazoan phospholipase C related, but catalytically inactive protein
      cd13364
      Location:17 → 125
      PH_PLC_eta; Phospholipase C-eta (PLC-eta) pleckstrin homology (PH) domain
      cd16223
      Location:145 → 288
      EFh_PRIP2; EF-hand motif found in phospholipase C-related but catalytically inactive protein 2 (PRIP-2)

    3. XM_006713073.4 → XP_006713136.1  inactive phospholipase C-like protein 2 isoform X2

      Conserved Domains (6) summary
      cd00275
      Location:648 → 776
      C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
      cd08597
      Location:320 → 616
      PI-PLCc_PRIP_metazoa; Catalytic domain of metazoan phospholipase C related, but catalytically inactive protein
      PLN02228
      Location:230 → 778
      PLN02228; Phosphoinositide phospholipase C
      cd13364
      Location:38 → 146
      PH_PLC_eta; Phospholipase C-eta (PLC-eta) pleckstrin homology (PH) domain
      pfam00169
      Location:40 → 146
      PH; PH domain
      pfam09279
      Location:238 → 320
      EF-hand_like; Phosphoinositide-specific phospholipase C, efhand-like

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_017363813.1 Reference GRCh38.p14 PATCHES

      Range
      115169..403074
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054332058.1 → XP_054188033.1  inactive phospholipase C-like protein 2 isoform X4

      UniProtKB/Swiss-Prot
      A8K5V4, Q8N498, Q9H8L0, Q9UFP9, Q9UPR0

    2. XM_054332060.1 → XP_054188035.1  inactive phospholipase C-like protein 2 isoform X2

    3. XM_054332059.1 → XP_054188034.1  inactive phospholipase C-like protein 2 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      16803899..17092796
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054345853.1 → XP_054201828.1  inactive phospholipase C-like protein 2 isoform X4

      UniProtKB/Swiss-Prot
      A8K5V4, Q8N498, Q9H8L0, Q9UFP9, Q9UPR0

    2. XM_054345855.1 → XP_054201830.1  inactive phospholipase C-like protein 2 isoform X2

    3. XM_054345854.1 → XP_054201829.1  inactive phospholipase C-like protein 2 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UPR0.2 GenPept UniProtKB/Swiss-Prot:Q9UPR0

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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