U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 9651, updated on 11-Apr-2024

Summary

Go to the top of the page Help
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; AllianceGenome:HGNC:29037
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
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
1p36.32
Exon count:
27
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (2415943..2505532)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (1855498..1946621)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (2398890..2436971)

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 ReSE screen-validated silencer GRCh37_chr1:2306674-2306868 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 54 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 55 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 56 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 112 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 114 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 113 Neighboring gene Sharpr-MPRA regulatory region 13804 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:2340121-2340621 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:2342650-2343230 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr1:2343231-2343811 to GRCh37_chr1:2344393-2344972 Neighboring gene retention in endoplasmic reticulum sorting receptor 1 Neighboring gene peroxisomal biogenesis factor 10 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:2361610-2361787 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:2377030-2377864 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:2378700-2379534 Neighboring gene Sharpr-MPRA regulatory region 13638 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:2383066-2383714 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:2383715-2384362 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:2423421-2423982 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:2430511-2431710 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:2454755-2455542 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:2458062-2458782 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:2459504-2460224 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr1:2460225-2460944 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:2461459-2461962 Neighboring gene pantothenate kinase 4 (inactive) Neighboring gene hes family bHLH transcription factor 5

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. Role of phosphoinositide-specific phospholipase C η2 in isolated and syndromic mental retardation. Lo Vasco VR. Eur Neurol, 2011. PMID 21474938
  2. Investigating SNPs flanking the D1S80 locus in a Tamil population from India. Balamurugan K, et al. Hum Biol, 2010 Apr. PMID 20649401
  3. Activation of human phospholipase C-eta2 by Gbetagamma. Zhou Y, et al. Biochemistry, 2008 Apr 15. PMID 18361507, Free PMC Article
  4. Molecular cloning and characterization of PLC-eta2. Zhou Y, et al. Biochem J, 2005 Nov 1. PMID 16107206, Free PMC Article
  5. Identification of a novel class of mammalian phosphoinositol-specific phospholipase C enzymes. Stewart AJ, et al. Int J Mol Med, 2005 Jan. PMID 15583837

See all (22) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. PLCH2 might be a putative candidate gene for the neurodevelopmental delay observed in patients bearing 1p36.3 deletions.
    Title: Role of phosphoinositide-specific phospholipase C η2 in isolated and syndromic mental retardation.
  2. The researchers investigated the D1S80 minisatellite and associated single nucelotide polymorphisms in a Tamil population in India.
    Title: Investigating SNPs flanking the D1S80 locus in a Tamil population from India.
  3. Purified Gbeta 1gamma 2 stimulated the activity of purified PLC-eta2 in a concentration-dependent manner similar to that observed with purified PLC-beta2.
    Title: Activation of human phospholipase C-eta2 by Gbetagamma.
  4. PLC(eta)2 is a neuron-specific isozyme that may be important for the formation and/or maintenance of the neuronal network in the postnatal brain
    Title: A novel phospholipase C, PLC(eta)2, is a neuron-specific isozyme.
  5. The molecular cloning and sequencing of phospholipase C eta2 are reported.
    Title: Molecular cloning and characterization of PLC-eta2.
  6. molecular cloning of PLC-eta1 and PLC-eta2
    Title: Identification of a novel class of mammalian phosphoinositol-specific phospholipase C enzymes.
Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

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

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

Go to the top of the page Help

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 PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Clone Names

  • RP3-395M20.1

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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
  
enables phosphatidylinositol phospholipase C activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in lipid catabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in phosphatidylinositol metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in phosphatidylinositol-mediated signaling IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in phospholipase C-activating G protein-coupled receptor signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in release of sequestered calcium ion into cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in cellular_component ND
No biological Data available
more info
  
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  

General protein information

Go to the top of the page Help
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_047290979.1
XP_047290980.1
XP_047290981.1
XP_047290984.1
XP_047290985.1
XP_047290989.1
XP_047290990.1
XP_047290994.1
XP_047290995.1
XP_054184595.1
XP_054195704.1
XP_054195705.1
XP_054195706.1
XP_054195707.1
XP_054195708.1
XP_054195709.1
XP_054195710.1
XP_054195711.1
XP_054195712.1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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.

mRNA and Protein(s)

  1. NM_001303012.2 → NP_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, AL139246, BM971622
    UniProtKB/TrEMBL
    Q86YU9
    Related
    ENSP00000397289.1, ENST00000449969.5
    Conserved Domains (7) summary
    cd00275
    Location:730 → 855
    C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
    cd08633
    Location:298 → 700
    PI-PLCc_eta2; Catalytic domain of metazoan phosphoinositide-specific phospholipase C-eta2
    PLN02952
    Location:215 → 840
    PLN02952; phosphoinositide phospholipase C
    cd00051
    Location:146 → 212
    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:22 → 128
    PH_PLC_eta; Phospholipase C-eta (PLC-eta) pleckstrin homology (PH) domain
    pfam09279
    Location:216 → 298
    EF-hand_like; Phosphoinositide-specific phospholipase C, efhand-like
    pfam13499
    Location:147 → 208
    EF-hand_7; EF-hand domain pair

  2. NM_001303013.1 → NP_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:777 → 902
    C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
    cd08633
    Location:345 → 747
    PI-PLCc_eta2; Catalytic domain of metazoan phosphoinositide-specific phospholipase C-eta2
    PLN02952
    Location:262 → 887
    PLN02952; phosphoinositide phospholipase C
    cd00051
    Location:193 → 259
    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:69 → 175
    PH_PLC_eta; Phospholipase C-eta (PLC-eta) pleckstrin homology (PH) domain
    pfam09279
    Location:263 → 345
    EF-hand_like; Phosphoinositide-specific phospholipase C, efhand-like
    pfam13499
    Location:194 → 255
    EF-hand_7; EF-hand domain pair

  3. NM_014638.4 → NP_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)
    AL139246, BC043358, BX117873, DQ176850
    Consensus CDS
    CCDS59959.1
    UniProtKB/Swiss-Prot
    A2VCM3, B9DI80, O75038, Q3LUA8, Q86XJ2, Q86XU1, Q86YU7, Q8TEH5, Q8WUS6
    UniProtKB/TrEMBL
    B9DI82
    Related
    ENSP00000367747.3, ENST00000378486.8
    Conserved Domains (7) summary
    cd00275
    Location:757 → 882
    C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
    cd08633
    Location:325 → 727
    PI-PLCc_eta2; Catalytic domain of metazoan phosphoinositide-specific phospholipase C-eta2
    PLN02952
    Location:242 → 867
    PLN02952; phosphoinositide phospholipase C
    cd00051
    Location:173 → 239
    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:49 → 155
    PH_PLC_eta; Phospholipase C-eta (PLC-eta) pleckstrin homology (PH) domain
    pfam09279
    Location:243 → 325
    EF-hand_like; Phosphoinositide-specific phospholipase C, efhand-like
    pfam13499
    Location:174 → 235
    EF-hand_7; EF-hand domain pair

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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    2415943..2505532
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047435029.1 → XP_047290985.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-2 isoform X4

  2. XM_047435028.1 → XP_047290984.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-2 isoform X4

  3. XM_047435038.1 → XP_047290994.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-2 isoform X7

  4. XM_047435023.1 → XP_047290979.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-2 isoform X1

  5. XM_047435025.1 → XP_047290981.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-2 isoform X3

  6. XM_047435024.1 → XP_047290980.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-2 isoform X2

  7. XM_047435033.1 → XP_047290989.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-2 isoform X5

  8. XM_047435034.1 → XP_047290990.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-2 isoform X6

  9. XM_047435039.1 → XP_047290995.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-2 isoform X8

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NT_187515.1 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    18641..56722
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054328620.1 → XP_054184595.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-2 isoform X9

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    1855498..1946621
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054339733.1 → XP_054195708.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-2 isoform X4

  2. XM_054339731.1 → XP_054195706.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-2 isoform X4

  3. XM_054339736.1 → XP_054195711.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-2 isoform X7

  4. XM_054339729.1 → XP_054195704.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-2 isoform X1

  5. XM_054339732.1 → XP_054195707.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-2 isoform X3

  6. XM_054339730.1 → XP_054195705.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-2 isoform X2

  7. XM_054339734.1 → XP_054195709.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-2 isoform X5

  8. XM_054339735.1 → XP_054195710.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-2 isoform X6

  9. XM_054339737.1 → XP_054195712.1  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-2 isoform X8

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O75038.3 GenPept UniProtKB/Swiss-Prot:O75038

Gene LinkOut

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

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous