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

Gene ID: 23228, updated on 19-Sep-2024

Summary

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
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Genomic context

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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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

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_001144382.2NP_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:753881
    C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
    cd08597
    Location:425721
    PI-PLCc_PRIP_metazoa; Catalytic domain of metazoan phospholipase C related, but catalytically inactive protein
    cd13364
    Location:143251
    PH_PLC_eta; Phospholipase C-eta (PLC-eta) pleckstrin homology (PH) domain
    cd16223
    Location:271414
    EFh_PRIP2; EF-hand motif found in phospholipase C-related but catalytically inactive protein 2 (PRIP-2)
  2. NM_015184.5NP_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:627755
    C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
    cd08597
    Location:299595
    PI-PLCc_PRIP_metazoa; Catalytic domain of metazoan phospholipase C related, but catalytically inactive protein
    cd13364
    Location:17125
    PH_PLC_eta; Phospholipase C-eta (PLC-eta) pleckstrin homology (PH) domain
    cd16223
    Location:145288
    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_047447799.1XP_047303755.1  inactive phospholipase C-like protein 2 isoform X1

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

    UniProtKB/Swiss-Prot
    Q9UPR0
    Conserved Domains (4) summary
    cd00275
    Location:627755
    C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
    cd08597
    Location:299595
    PI-PLCc_PRIP_metazoa; Catalytic domain of metazoan phospholipase C related, but catalytically inactive protein
    cd13364
    Location:17125
    PH_PLC_eta; Phospholipase C-eta (PLC-eta) pleckstrin homology (PH) domain
    cd16223
    Location:145288
    EFh_PRIP2; EF-hand motif found in phospholipase C-related but catalytically inactive protein 2 (PRIP-2)
  3. XM_006713073.4XP_006713136.1  inactive phospholipase C-like protein 2 isoform X2

    Conserved Domains (6) summary
    cd00275
    Location:648776
    C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
    cd08597
    Location:320616
    PI-PLCc_PRIP_metazoa; Catalytic domain of metazoan phospholipase C related, but catalytically inactive protein
    PLN02228
    Location:230778
    PLN02228; Phosphoinositide phospholipase C
    cd13364
    Location:38146
    PH_PLC_eta; Phospholipase C-eta (PLC-eta) pleckstrin homology (PH) domain
    pfam00169
    Location:40146
    PH; PH domain
    pfam09279
    Location:238320
    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_054332058.1XP_054188033.1  inactive phospholipase C-like protein 2 isoform X4

    UniProtKB/Swiss-Prot
    A8K5V4, Q8N498, Q9H8L0, Q9UFP9, Q9UPR0
  2. XM_054332060.1XP_054188035.1  inactive phospholipase C-like protein 2 isoform X2

  3. XM_054332059.1XP_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_054345853.1XP_054201828.1  inactive phospholipase C-like protein 2 isoform X4

    UniProtKB/Swiss-Prot
    A8K5V4, Q8N498, Q9H8L0, Q9UFP9, Q9UPR0
  2. XM_054345855.1XP_054201830.1  inactive phospholipase C-like protein 2 isoform X2

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