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

Gene ID: 9651, updated on 5-Sep-2021

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
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
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Genomic context

See PLCH2 in Genome Data Viewer
Location:
1p36.32
Exon count:
27
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (2412481..2505532)
105.20201022 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 Sharpr-MPRA regulatory region 13804 Neighboring gene retention in endoplasmic reticulum sorting receptor 1 Neighboring gene peroxisomal biogenesis factor 10 Neighboring gene pantothenate kinase 4 (inactive) 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide association study in Chinese men identifies three risk loci for non-obstructive azoospermia.
GeneReviews: Not available
Biological insights from 108 schizophrenia-associated genetic loci.
GeneReviews: Not available
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
GeneReviews: Not available
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.
GeneReviews: Not available

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 PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
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 IEA
Inferred from Electronic Annotation
more info
 
involved_in phosphatidylinositol-mediated signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in phosphatidylinositol-mediated signaling IDA
Inferred from Direct Assay
more info
PubMed 
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

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)

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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_001303012.2NP_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/Swiss-Prot
    O75038
    Related
    ENSP00000397289.1, ENST00000449969.5
    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_014638.4NP_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
    O75038
    Related
    ENSP00000367747.3, ENST00000378486.8
    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 Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    2412481..2505532
    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.p13 ALT_REF_LOCI_1

Genomic

  1. NT_187515.1 Reference GRCh38.p13 ALT_REF_LOCI_1

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