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

Gene ID: 23228, updated on 11-Apr-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 negative regulation of cold-induced thermogenesis and phosphatidylinositol-mediated signaling. Predicted to act upstream of or within several processes, including B cell activation; gamma-aminobutyric acid signaling pathway; and negative regulation of B cell receptor signaling pathway. Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
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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Location:
3p24.3
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (16884955..17090606)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (16803899..17092796)
105.20220307 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
  • 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. [Functional Hypermethylation of ALDH1L1, PLCL2, and PPP2R3A in Colon Cancer]. Dmitriev AA, et al. Mol Biol (Mosk), 2020 Mar-Apr. PMID 32392189
  3. 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
  4. 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
  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 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_2023_10

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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