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

Gene ID: 9651, updated on 11-Sep-2014
Official Symbol
PLCH2provided by HGNC
Official Full Name
phospholipase C, eta 2provided by HGNC
Primary source
HGNC:HGNC:29037
Locus tag
RP3-395M20.1
See related
Ensembl:ENSG00000149527; MIM:612836; Vega:OTTHUMG00000000719
Gene type
protein coding
RefSeq status
PROVISIONAL
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PLCL4; 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]
See PLCH2 in Epigenomics, MapViewer
Location:
1p36.32
Exon count:
25
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 1 NC_000001.11 (2428887..2505532)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (2407754..2436964)

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 retention in endoplasmic reticulum sorting receptor 1 Neighboring gene peroxisomal biogenesis factor 10 Neighboring gene pantothenate kinase 4 Neighboring gene hes family bHLH transcription factor 5

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
A genome-wide association study in Chinese men identifies three risk loci for non-obstructive azoospermia.
NHGRI GWA Catalog
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
NHGRI GWA Catalog
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.
NHGRI GWA Catalog

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 Protein Interaction Database

  • Inositol phosphate metabolism, organism-specific biosystem (from REACTOME)
    Inositol phosphate metabolism, organism-specific biosystemInositol phosphates (IPs) are molecules involves in signalling processes in eukaryotes. myo-Inositol consists of a six-carbon cyclic alcohol with an axial 2-hydroxy and five equatorial hydroxyls. M...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Synthesis of IP3 and IP4 in the cytosol, organism-specific biosystem (from REACTOME)
    Synthesis of IP3 and IP4 in the cytosol, organism-specific biosystemAn array of inositol trisphosphate (IP3) and tetrakisphosphate (IP4) molecules are synthesised by the action of various kinases and phosphatases in the cytosol (Irvine & Schell 2001, Bunney & Katan 2...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
molecular_function ND
No biological Data available
more info
 
phosphatidylinositol phospholipase C activity IEA
Inferred from Electronic Annotation
more info
 
signal transducer activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
biological_process ND
No biological Data available
more info
 
inositol phosphate metabolic process TAS
Traceable Author Statement
more info
 
intracellular signal transduction IEA
Inferred from Electronic Annotation
more info
 
lipid catabolic process IEA
Inferred from Electronic Annotation
more info
 
phosphatidylinositol metabolic process IEA
Inferred from Electronic Annotation
more info
 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cellular_component ND
No biological Data available
more info
 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
Preferred Names
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-2
Names
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-2
PLC-L4
RP3-395M20.1
phospholipase C-eta2
phospholipase C-eta-2
phospholipase C-like 4
phospholipase C-like protein 4
phosphoinositide phospholipase C-eta-2
phosphoinositide phospholipase C-like 4
1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase eta-2
NP_055453.2

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_014638.2NP_055453.2  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-2

    See proteins identical to NP_055453.2

    Status: PROVISIONAL

    Source sequence(s)
    DQ176850
    Consensus CDS
    CCDS59959.1
    UniProtKB/Swiss-Prot
    O75038
    Related
    ENSP00000367747, ENST00000378486
    Conserved Domains (7) summary
    pfam09279
    Location:243325
    Blast Score: 307
    EF-hand_like; Phosphoinositide-specific phospholipase C, efhand-like
    cd00275
    Location:757882
    Blast Score: 450
    C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
    cd08633
    Location:325727
    Blast Score: 1332
    PI-PLCc_eta2; Catalytic domain of metazoan phosphoinositide-specific phospholipase C-eta2
    PLN02952
    Location:242867
    Blast Score: 614
    PLN02952; phosphoinositide phospholipase C
    cd00051
    Location:173239
    Blast Score: 165
    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
    Blast Score: 517
    PH_PLC_eta; Phospholipase C-eta (PLC-eta) pleckstrin homology (PH) domain
    pfam13499
    Location:179235
    Blast Score: 137
    EF-hand_7; EF-hand domain pair

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 ALT_REF_LOCI_1

Genomic

  1. NT_187515.1 

    Range
    18655..56722
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006724951.1XP_006725014.1  

    See proteins identical to XP_006725014.1

    UniProtKB/Swiss-Prot
    O75038
    Conserved Domains (7) summary
    pfam09279
    Location:216298
    Blast Score: 307
    EF-hand_like; Phosphoinositide-specific phospholipase C, efhand-like
    cd00275
    Location:730855
    Blast Score: 450
    C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
    cd08633
    Location:298700
    Blast Score: 1332
    PI-PLCc_eta2; Catalytic domain of metazoan phosphoinositide-specific phospholipase C-eta2
    PLN02952
    Location:215840
    Blast Score: 615
    PLN02952; phosphoinositide phospholipase C
    cd00051
    Location:146212
    Blast Score: 165
    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
    Blast Score: 514
    PH_PLC_eta; Phospholipase C-eta (PLC-eta) pleckstrin homology (PH) domain
    pfam13499
    Location:152208
    Blast Score: 137
    EF-hand_7; EF-hand domain pair
  2. XM_006724950.1XP_006725013.1  

    Conserved Domains (7) summary
    pfam09279
    Location:216298
    Blast Score: 307
    EF-hand_like; Phosphoinositide-specific phospholipase C, efhand-like
    cd00275
    Location:730855
    Blast Score: 450
    C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
    cd08633
    Location:298700
    Blast Score: 1332
    PI-PLCc_eta2; Catalytic domain of metazoan phosphoinositide-specific phospholipase C-eta2
    PLN02952
    Location:215840
    Blast Score: 612
    PLN02952; phosphoinositide phospholipase C
    cd00051
    Location:146212
    Blast Score: 165
    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
    Blast Score: 517
    PH_PLC_eta; Phospholipase C-eta (PLC-eta) pleckstrin homology (PH) domain
    pfam13499
    Location:152208
    Blast Score: 137
    EF-hand_7; EF-hand domain pair
  3. XM_006724949.1XP_006725012.1  

    Conserved Domains (7) summary
    pfam09279
    Location:216298
    Blast Score: 307
    EF-hand_like; Phosphoinositide-specific phospholipase C, efhand-like
    cd00275
    Location:729854
    Blast Score: 450
    C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
    cd08633
    Location:298699
    Blast Score: 1333
    PI-PLCc_eta2; Catalytic domain of metazoan phosphoinositide-specific phospholipase C-eta2
    PLN02952
    Location:215839
    Blast Score: 616
    PLN02952; phosphoinositide phospholipase C
    cd00051
    Location:146212
    Blast Score: 165
    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
    Blast Score: 517
    PH_PLC_eta; Phospholipase C-eta (PLC-eta) pleckstrin homology (PH) domain
    pfam13499
    Location:152208
    Blast Score: 137
    EF-hand_7; EF-hand domain pair

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000001.11 

    Range
    2428887..2505532
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006711054.1XP_006711117.1  

    Conserved Domains (7) summary
    pfam09279
    Location:240322
    Blast Score: 307
    EF-hand_like; Phosphoinositide-specific phospholipase C, efhand-like
    cd00275
    Location:754879
    Blast Score: 450
    C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
    cd08633
    Location:322724
    Blast Score: 1332
    PI-PLCc_eta2; Catalytic domain of metazoan phosphoinositide-specific phospholipase C-eta2
    PLN02952
    Location:239864
    Blast Score: 613
    PLN02952; phosphoinositide phospholipase C
    cd00051
    Location:170236
    Blast Score: 165
    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:46152
    Blast Score: 517
    PH_PLC_eta; Phospholipase C-eta (PLC-eta) pleckstrin homology (PH) domain
    pfam13499
    Location:176232
    Blast Score: 137
    EF-hand_7; EF-hand domain pair
  2. XM_006711055.1XP_006711118.1  

    See proteins identical to XP_006711118.1

    UniProtKB/Swiss-Prot
    O75038
    Related
    ENSP00000397289, OTTHUMP00000272129, ENST00000449969, OTTHUMT00000001798
    Conserved Domains (7) summary
    pfam09279
    Location:216298
    Blast Score: 307
    EF-hand_like; Phosphoinositide-specific phospholipase C, efhand-like
    cd00275
    Location:730855
    Blast Score: 450
    C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
    cd08633
    Location:298700
    Blast Score: 1332
    PI-PLCc_eta2; Catalytic domain of metazoan phosphoinositide-specific phospholipase C-eta2
    PLN02952
    Location:215840
    Blast Score: 615
    PLN02952; phosphoinositide phospholipase C
    cd00051
    Location:146212
    Blast Score: 165
    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
    Blast Score: 514
    PH_PLC_eta; Phospholipase C-eta (PLC-eta) pleckstrin homology (PH) domain
    pfam13499
    Location:152208
    Blast Score: 137
    EF-hand_7; EF-hand domain pair

Alternate HuRef

Genomic

  1. AC_000133.1 

    Range
    1686028..1715412
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 

    Range
    2394552..2423710
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)