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 more...

Aliases for PLCH2 Gene

Aliases for PLCH2 Gene

  • Phospholipase C Eta 2 2 3 5
  • 1-Phosphatidylinositol 4,5-Bisphosphate Phosphodiesterase Eta-2 2 3 4
  • 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 54
  • PLC-Eta2 3 4
  • PLC-L4 3 4
  • PLCL4 3 4
  • Phospholipase C, Eta 2 2
  • 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. Diseases associated with PLCH2 include Peroxisome Biogenesis Disorder 6B and Peroxisome Biogenesis Disorder 6A. Among its related pathways are Inositol phosphate metabolism and superpathway of inositol phosphate compounds. Gene Ontology (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 Summary 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.

Additional gene information for PLCH2 Gene

No data available for CIViC Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PLCH2 Gene

Genomics for PLCH2 Gene

GeneHancer (GH) Regulatory Elements for PLCH2 Gene

Promoters and enhancers for PLCH2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PLCH2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PLCH2 gene promoter:
  • AML1a
  • HEN1
  • HOXA5
  • NRSF form 1
  • NRSF form 2
  • PPAR-gamma1
  • RORalpha1
  • S8

Genomic Locations for PLCH2 Gene

Genomic Locations for PLCH2 Gene
chr1:2,415,782-2,505,532
(GRCh38/hg38)
Size:
89,751 bases
Orientation:
Plus strand
chr1:2,357,419-2,436,969
(GRCh37/hg19)
Size:
79,551 bases
Orientation:
Plus strand

Genomic View for PLCH2 Gene

Genes around PLCH2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PLCH2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Selected DME Specific Peptides for PLCH2 Gene

O75038:
  • SSFSETKA
  • QLSRIYP
  • SSHNTYL
  • RVDSSNY
  • PLSHYFI
  • HGYTLTSK
  • CGYVLKP

Post-translational modifications for PLCH2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for PLCH2 Gene

Gene Families for PLCH2 Gene

Suggested Antigen Peptide Sequences for PLCH2 Gene

GenScript: Design optimal peptide antigens:
  • PLCH2 protein (A2VCM4_HUMAN)
  • Phospholipase C, eta 2 (B9DI83_HUMAN)
  • Phospholipase C-eta-2 (PLCH2_HUMAN)
genes like me logo Genes that share domains with PLCH2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for PLCH2 Gene

Function for PLCH2 Gene

Molecular function for PLCH2 Gene

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).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-4,5-bisphosphate) + H2O = 1D-myo-inositol 1,4,5-trisphosphate + a 1,2-diacyl-sn-glycerol + H(+); Xref=Rhea:RHEA:33179, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17815, ChEBI:CHEBI:58456, ChEBI:CHEBI:203600; EC=3.1.4.11;.

Enzyme Numbers (IUBMB) for PLCH2 Gene

Phenotypes From GWAS Catalog 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 IBA 21873635
GO:0004629 phospholipase C activity IEA --
GO:0005509 calcium ion binding IEA --
GO:0008081 phosphoric diester hydrolase activity IEA --
genes like me logo Genes that share ontologies with PLCH2: view
genes like me logo Genes that share phenotypes with PLCH2: view

Animal Models for PLCH2 Gene

MGI Knock Outs for PLCH2:

Animal Model Products

CRISPR Products

miRNA for PLCH2 Gene

miRTarBase miRNAs that target PLCH2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PLCH2

Clone Products

  • Addgene plasmids for PLCH2

No data available for Human Phenotype Ontology , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PLCH2 gene
Compartment Confidence
plasma membrane 5
cytosol 3

Gene Ontology (GO) - Cellular Components for PLCH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane TAS,IBA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with PLCH2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PLCH2 Gene

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
  • Phospholipase-C Pathway
1 GeneTex pathway for PLCH2 Gene

Gene Ontology (GO) - Biological Process for PLCH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0007165 signal transduction IEA --
GO:0008150 biological_process ND --
GO:0016042 lipid catabolic process IEA --
GO:0032959 inositol trisphosphate biosynthetic process IBA 21873635
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

(3) Drugs for PLCH2 Gene - From: HMDB and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
Calcium Approved Nutra 7773
AACOCF3 Pharma Inhibitor of cPLA2/anandamide hydrolysis/FAAH, Phospholipase A2 inhibitor 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Diglycerides Group A
  • 1-arachidonyl-3-behenoyl-sn-glycerol
  • DAG(42:0)
  • Diacylglycerol(20:0/0:0/22:0)
  • DG(42:0)
  • Diglyceride
Diglycerides Group B
  • 1-Myristoyl-2-eicosadienoyl-sn-glycerol
  • DAG(14:0/20:2)
  • DAG(14:0/20:2N6)
  • DAG(14:0/20:2W6)
  • DAG(34:2)
Diglycerides Group C
  • 1-Stearoyl-2-palmitoyl-sn-glycerol
  • DAG(18:0/16:0)
  • DAG(34:0)
  • DG(18:0/16:0)
  • DG(34:0)
Diglycerides Group D
  • 1,2-Di-(4Z,7Z,10Z,13Z,16Z,19Z-docosahexaenoyl)-sn-glycerol
  • 1,2-Didocosahexaenoyl-sn-glycerol
  • DAG(22:6/22:6)
  • DAG(22:6N3/22:6N3)
  • DAG(22:6OMEGA3/22:6OMEGA3)
Inositol 1,4,5-trisphosphate
  • 1,4,5-Insp3
  • D-myo-Inositol 1,4,5-trisphosphate
  • D-myo-INOSITOL-1,4,5-triphosphATE
  • Ins(1,4,5)P3
  • InsP3
88269-39-0

(5) Tocris Compounds for PLCH2 Gene

Compound Action Cas Number
AACOCF3 Phospholipase A2 inhibitor 149301-79-1
Edelfosine Selective PI-PLC inhibitor, also PAF receptor agonist 77286-66-9
m-3M3FBS Phospholipase C activator 200933-14-8
o-3M3FBS Inactive analog of m-3M3FBS (Cat. No. 1941) 313981-55-4
U 73122 Phospholipase C inhibitor 112648-68-7
genes like me logo Genes that share compounds with PLCH2: view

Transcripts for PLCH2 Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PLCH2

Clone Products

  • Addgene plasmids for PLCH2

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for PLCH2 Gene



Protein tissue co-expression partners for PLCH2 Gene

NURSA nuclear receptor signaling pathways regulating expression of PLCH2 Gene:

PLCH2

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.

Evidence on tissue expression from TISSUES for PLCH2 Gene

  • Skin(4.3)
  • Nervous system(4.2)
  • Spleen(4.1)
  • Pancreas(4)
genes like me logo Genes that share expression patterns with PLCH2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for PLCH2 Gene

Orthologs for PLCH2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PLCH2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PLCH2 33 32
  • 98.99 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PLCH2 33 32
  • 86.18 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PLCH2 33 32
  • 85.32 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Plch2 17 33 32
  • 83.55 (n)
rat
(Rattus norvegicus)
Mammalia Plch2 32
  • 83.38 (n)
oppossum
(Monodelphis domestica)
Mammalia PLCH2 33
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PLCH2 33
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves PLCH2 33 32
  • 68.98 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PLCH2 33
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100487353 32
  • 71.58 (n)
Str.19342 32
zebrafish
(Danio rerio)
Actinopterygii PLCH2 (1 of 2) 33
  • 69 (a)
OneToMany
plch2a 33
  • 68 (a)
OneToMany
plch2 32
  • 67.43 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G40116 32
  • 43.21 (n)
rice
(Oryza sativa)
Liliopsida Os07g0694000 32
  • 46.73 (n)
Species where no ortholog for PLCH2 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for PLCH2: view image

Paralogs for PLCH2 Gene

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

  • PLCH2_HUMAN
  • A2VCM4_HUMAN
  • A6NGX9_HUMAN
  • B9DI81_HUMAN
  • B9DI82_HUMAN
  • V9GY64_HUMAN
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 Variation AA Info Type
rs112471479 uncertain-significance, benign, likely-benign, Peroxisome biogenesis disorder 1A (Zellweger), not specified, not provided 2,412,497(+) G/A/C 5_prime_UTR_variant, genic_upstream_transcript_variant
rs1553232917 likely-pathogenic, Peroxisome biogenesis disorder 6A, Peroxisome biogenesis disorder 6B 2,412,477(+) GGGGGG/GGGGG/GGGGGGG 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs1553232926 likely-pathogenic, Peroxisome biogenesis disorder 6A, Peroxisome biogenesis disorder 6B 2,412,483(+) C/ 5_prime_UTR_variant, genic_upstream_transcript_variant
rs570192538 uncertain-significance, Peroxisome biogenesis disorder 1A (Zellweger) 2,412,553(+) CA/ coding_sequence_variant, frameshift, genic_upstream_transcript_variant
rs62636524 pathogenic, likely-pathogenic, not provided, Peroxisome biogenesis disorder 6A, Peroxisome biogenesis disorder 6B 2,412,499(+) CC/C 5_prime_UTR_variant, genic_upstream_transcript_variant

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

Variant ID Type Subtype PubMed ID
dgv1n27 CNV loss 19166990
dgv50n54 CNV loss 21841781
nsv470684 CNV loss 18288195
nsv470685 CNV gain 18288195
nsv545076 CNV gain 21841781
nsv545077 CNV gain 21841781
nsv545078 CNV loss 21841781
nsv545079 CNV loss 21841781
nsv545080 CNV loss 21841781
nsv545081 CNV loss 21841781
nsv818222 CNV loss 17921354
nsv823920 CNV gain 20364138
nsv951557 CNV deletion 24416366
nsv998482 CNV loss 25217958

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)

Additional Variant Information for PLCH2 Gene

Human Gene Mutation Database (HGMD)
PLCH2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PLCH2

SNP Genotyping and Copy Number Assay Products

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

Disorders for PLCH2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for PLCH2 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
peroxisome biogenesis disorder 6b
  • pbd6b
peroxisome biogenesis disorder 6a
  • pbd6a
chromosome 1p36 deletion syndrome
  • monosomy 1p36 syndrome
- elite association - COSMIC cancer census association via MalaCards
Search PLCH2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PLCH2

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

No data available for 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 (The Journal of biological chemistry 2005) 2 3 23 56
  2. Activation of human phospholipase C-eta2 by Gbetagamma. (PMID: 18361507) Zhou Y … Harden TK (Biochemistry 2008) 3 23 56
  3. Molecular cloning and characterization of PLC-eta2. (PMID: 16107206) Zhou Y … Harden TK (The Biochemical journal 2005) 3 4 56
  4. Characterization of cDNA clones in size-fractionated cDNA libraries from human brain. (PMID: 9455484) Seki N … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1997) 3 4 56
  5. ZFP36L2 is a cell cycle-regulated CCCH protein necessary for DNA lesion-induced S-phase arrest. (PMID: 29449217) Noguchi A … Kawahara H (Biology open 2018) 3 56

Products for PLCH2 Gene

Sources for PLCH2 Gene