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Aliases for PLCH2 Gene

Aliases for PLCH2 Gene

  • Phospholipase C, Eta 2 2 3
  • Phosphoinositide Phospholipase C-Like 4 3 4
  • Phosphoinositide Phospholipase C-Eta-2 3 4
  • Phospholipase C-Like Protein 4 3 4
  • Phospholipase C-Like 4 2 3
  • EC 3.1.4.11 4 63
  • PLC-Eta2 3 4
  • PLC-L4 3 4
  • PLCL4 3 4
  • Phospholipase C-Eta-2 4
  • Phospholipase C-Eta2 3
  • KIAA0450 4
  • PLCeta2 3

External Ids for PLCH2 Gene

Previous HGNC Symbols for PLCH2 Gene

  • PLCL4

Previous GeneCards Identifiers for PLCH2 Gene

  • GC01P002347
  • GC01P002397
  • GC01P001686

Summaries for PLCH2 Gene

Entrez Gene Summary for PLCH2 Gene

  • 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]

GeneCards Summary for PLCH2 Gene

PLCH2 (Phospholipase C, Eta 2) is a Protein Coding gene. Among its related pathways are Phospholipase-C Pathway and Metabolism. GO annotations related to this gene include calcium ion binding and phosphoric diester hydrolase activity. An important paralog of this gene is PLCH1.

UniProtKB/Swiss-Prot for PLCH2 Gene

  • The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. This phospholipase activity is very sensitive to calcium. May be important for formation and maintenance of the neuronal network in the postnatal brain (By similarity).

Tocris Summary for PLCH2 Gene

  • Phospholipases are a group of enzymes that hydrolyze phospholipids into fatty acids and other lipophilic molecules. There are four major classes; phospholipase A, phospholipase B, phosphoinositide-specific phospholipase C and phospholipase D.

No data available for Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PLCH2 Gene

Genomics for PLCH2 Gene

Regulatory Elements for PLCH2 Gene

Genomic Location for PLCH2 Gene

Chromosome:
1
Start:
2,415,782 bp from pter
End:
2,505,530 bp from pter
Size:
89,749 bases
Orientation:
Plus strand

Genomic View for PLCH2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PLCH2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PLCH2 Gene

Proteins for PLCH2 Gene

  • Protein details for PLCH2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75038-PLCH2_HUMAN
    Recommended name:
    1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-2
    Protein Accession:
    O75038
    Secondary Accessions:
    • A2VCM3
    • B9DI80
    • Q3LUA8
    • Q86XJ2
    • Q86XU1
    • Q86YU7
    • Q8TEH5
    • Q8WUS6

    Protein attributes for PLCH2 Gene

    Size:
    1416 amino acids
    Molecular mass:
    154668 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH43358.1; Type=Frameshift; Positions=172; Evidence={ECO:0000305}; Sequence=BAA32295.3; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAC56932.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for PLCH2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PLCH2 Gene

Proteomics data for PLCH2 Gene at MOPED

Selected DME Specific Peptides for PLCH2 Gene

Post-translational modifications for PLCH2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PLCH2 Gene

Domains & Families for PLCH2 Gene

Gene Families for PLCH2 Gene

Suggested Antigen Peptide Sequences for PLCH2 Gene

Graphical View of Domain Structure for InterPro Entry

O75038

UniProtKB/Swiss-Prot:

PLCH2_HUMAN :
  • Contains 1 C2 domain.
Domain:
  • Contains 1 C2 domain.
  • Contains 2 EF-hand domains.
  • Contains 1 PH domain.
  • Contains 1 PI-PLC X-box domain.
  • Contains 1 PI-PLC Y-box domain.
genes like me logo Genes that share domains with PLCH2: view

Function for PLCH2 Gene

Molecular function for PLCH2 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate + H(2)O = 1D-myo-inositol 1,4,5-trisphosphate + diacylglycerol
UniProtKB/Swiss-Prot Function:
The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. This phospholipase activity is very sensitive to calcium. May be important for formation and maintenance of the neuronal network in the postnatal brain (By similarity).

Enzyme Numbers (IUBMB) for PLCH2 Gene

Gene Ontology (GO) - Molecular Function for PLCH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0004435 phosphatidylinositol phospholipase C activity IEA --
GO:0004629 phospholipase C activity --
GO:0004871 signal transducer activity IEA --
GO:0005509 calcium ion binding IEA --
genes like me logo Genes that share ontologies with PLCH2: view
genes like me logo Genes that share phenotypes with PLCH2: view

Animal Model Products

miRNA for PLCH2 Gene

miRTarBase miRNAs that target PLCH2

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for PLCH2 Gene

Localization for PLCH2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PLCH2 Gene

Cytoplasm. Cell membrane. Note=Localized predominantly at the plasma membrane. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PLCH2 Gene COMPARTMENTS Subcellular localization image for PLCH2 gene
Compartment Confidence
plasma membrane 5

Gene Ontology (GO) - Cellular Components for PLCH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005622 intracellular --
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with PLCH2: view

Pathways & Interactions for PLCH2 Gene

genes like me logo Genes that share pathways with PLCH2: view

Pathways by source for PLCH2 Gene

1 Qiagen pathway for PLCH2 Gene
1 PharmGKB pathway for PLCH2 Gene
2 KEGG pathways for PLCH2 Gene

Interacting Proteins for PLCH2 Gene

Gene Ontology (GO) - Biological Process for PLCH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process --
GO:0007165 signal transduction --
GO:0008150 biological_process ND --
GO:0008152 metabolic process --
GO:0016042 lipid catabolic process IEA --
genes like me logo Genes that share ontologies with PLCH2: view

No data available for SIGNOR curated interactions for PLCH2 Gene

Drugs & Compounds for PLCH2 Gene

(1) Drugs for PLCH2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Nutra 0

(388) Additional Compounds for PLCH2 Gene - From: HMDB and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Diglycerides Group A
  • 1,2-Dimyristoyl-rac-glycerol
  • DAG(14:0/14:0)
  • DAG(28:0)
  • DG(14:0/14:0)
  • DG(28:0)
Diglycerides Group B
  • 1-Palmitoleoyl-2-arachidonyl-sn-glycerol
  • DAG(16:1/20:0)
  • DAG(16:1n7/20:0)
  • DAG(16:1w7/20:0)
  • DAG(36:1)
Diglycerides Group C
  • 1-Myristoyl-3-stearoyl-sn-glycerol
  • 1-Tetradecanoyl-3-octadecanoyl-sn-glycerol
  • DAG(14:0/0:0/18:0)
  • DAG(32:0)
  • DG(32:0)
Diglycerides Group D
  • 1,2-Didocosahexaenoyl-rac-glycerol
  • DAG(22:6/22:6)
  • DAG(22:6n3/22:6n3)
  • DAG(22:6w3/22:6w3)
  • DAG(44:12)
Inositol 1,4,5-trisphosphate
  • 1D-Myo-Inositol 1,4,5-trisphosphate
  • D-Myo-Inositol 1,4,5-trisphosphate
  • Inositol 1,4,5-trisphosphate
88269-39-0
genes like me logo Genes that share compounds with PLCH2: view

Transcripts for PLCH2 Gene

Unigene Clusters for PLCH2 Gene

Phospholipase C, eta 2:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PLCH2

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PLCH2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^
SP1: - -
SP2: -
SP3: - -
SP4: -
SP5: - - - - - - - - - - - - - - - - - - - -
SP6: - -
SP7:

ExUns: 24a · 24b ^ 25 ^ 26a · 26b
SP1:
SP2: - -
SP3: - -
SP4:
SP5:
SP6:
SP7:

Relevant External Links for PLCH2 Gene

GeneLoc Exon Structure for
PLCH2
ECgene alternative splicing isoforms for
PLCH2

Expression for PLCH2 Gene

mRNA expression in normal human tissues for PLCH2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PLCH2 Gene

This gene is overexpressed in Brain - Cerebellum (x5.9), Skin - Not Sun Exposed (Suprapubic) (x5.5), Brain - Cerebellar Hemisphere (x5.3), and Skin - Sun Exposed (Lower leg) (x4.0).

Protein differential expression in normal tissues from HIPED for PLCH2 Gene

This gene is overexpressed in Lavage (34.5) and Testis (32.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PLCH2 Gene



SOURCE GeneReport for Unigene cluster for PLCH2 Gene Hs.170156

mRNA Expression by UniProt/SwissProt for PLCH2 Gene

O75038-PLCH2_HUMAN
Tissue specificity: Expressed in retina and kidney.
genes like me logo Genes that share expression patterns with PLCH2: view

Protein tissue co-expression partners for PLCH2 Gene

Primer Products

In Situ Assay Products

Orthologs for PLCH2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PLCH2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PLCH2 35
  • 85.32 (n)
  • 83.48 (a)
PLCH2 36
  • 62 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PLCH2 35
  • 86.18 (n)
  • 87.46 (a)
PLCH2 36
  • 61 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Plch2 35
  • 83.55 (n)
  • 83.64 (a)
Plch2 16
Plch2 36
  • 62 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PLCH2 35
  • 98.99 (n)
  • 98.94 (a)
PLCH2 36
  • 71 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Plch2 35
  • 83.38 (n)
  • 84.38 (a)
oppossum
(Monodelphis domestica)
Mammalia PLCH2 36
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PLCH2 36
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves PLCH2 35
  • 68.98 (n)
  • 73.72 (a)
PLCH2 36
  • 58 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PLCH2 36
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100487353 35
  • 71.58 (n)
  • 81.13 (a)
Str.19342 35
zebrafish
(Danio rerio)
Actinopterygii plch2 35
  • 67.43 (n)
  • 69.85 (a)
PLCH2 (1 of 2) 36
  • 69 (a)
OneToMany
plch2a 36
  • 68 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G40116 35
  • 43.21 (n)
  • 37.57 (a)
rice
(Oryza sativa)
Liliopsida Os07g0694000 35
  • 46.73 (n)
  • 35.25 (a)
Species with no ortholog for PLCH2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PLCH2 Gene

ENSEMBL:
Gene Tree for PLCH2 (if available)
TreeFam:
Gene Tree for PLCH2 (if available)

Paralogs for PLCH2 Gene

Paralogs for PLCH2 Gene

(8) SIMAP similar genes for PLCH2 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with PLCH2: view

Variants for PLCH2 Gene

Sequence variations from dbSNP and Humsavar for PLCH2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs12219 -- 2,505,339(+) CCTCC(A/G)CCCCT utr-variant-3-prime
rs942817 -- 2,482,195(-) TCGGA(C/G)AGTGA intron-variant
rs942818 -- 2,470,211(-) CAGGG(A/G)CCTGA intron-variant
rs942820 -- 2,448,266(-) AGGAC(C/T)GCGAG intron-variant
rs1105053 -- 2,482,680(-) TCACC(A/G)GTCAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PLCH2 Gene

Variant ID Type Subtype PubMed ID
dgv64n71 CNV Loss 21882294
dgv69n71 CNV Loss 21882294
dgv71n71 CNV Loss 21882294
dgv72n71 CNV Loss 21882294
dgv74n71 CNV Loss 21882294
dgv75n71 CNV Loss 21882294
nsv470684 CNV Loss 18288195
dgv76n71 CNV Loss 21882294
dgv1n27 CNV Loss 19166990
dgv77n71 CNV Gain 21882294
dgv78n71 CNV Gain+Loss 21882294
dgv79n71 CNV Loss 21882294
nsv470685 CNV Gain 18288195
dgv80n71 CNV Loss 21882294
dgv81n71 CNV Loss 21882294
nsv871726 CNV Loss 21882294
nsv870655 CNV Loss 21882294
nsv871912 CNV Gain 21882294
nsv871255 CNV Loss 21882294
nsv823920 CNV Gain 20364138
esv2719473 CNV Deletion 23290073
nsv818222 CNV Loss 17921354
esv2719584 CNV Deletion 23290073

Variation tolerance for PLCH2 Gene

Residual Variation Intolerance Score: 91.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.82; 67.00% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PLCH2 Gene

HapMap Linkage Disequilibrium report
PLCH2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PLCH2 Gene

Disorders for PLCH2 Gene

Relevant External Links for PLCH2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PLCH2
genes like me logo Genes that share disorders with PLCH2: view

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PLCH2 Gene

Publications for PLCH2 Gene

  1. A novel phospholipase C, PLC(eta)2, is a neuron-specific isozyme. (PMID: 15899900) Nakahara M. … Fukami K. (J. Biol. Chem. 2005) 2 23 67
  2. Activation of human phospholipase C-eta2 by Gbetagamma. (PMID: 18361507) Zhou Y. … Harden T.K. (Biochemistry 2008) 23 67
  3. Biological insights from 108 schizophrenia-associated genetic loci. (PMID: 25056061) (Nature 2014) 67
  4. Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. (PMID: 23128233) Jostins L. … Cho J.H. (Nature 2012) 67
  5. A genome-wide association study in Chinese men identifies three risk loci for non-obstructive azoospermia. (PMID: 22197933) Hu Z. … Sha J. (Nat. Genet. 2012) 67

Products for PLCH2 Gene

Sources for PLCH2 Gene

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