Human Gene PLCH2 (ENST00000378486.8_9) from GENCODE V47lift37
  Description: phospholipase C eta 2, transcript variant 1 (from RefSeq NM_014638.4)
Gencode Transcript: ENST00000378486.8_9
Gencode Gene: ENSG00000149527.18_18
Transcript (Including UTRs)
   Position: hg19 chr1:2,407,728-2,436,971 Size: 29,244 Total Exon Count: 22 Strand: +
Coding Region
   Position: hg19 chr1:2,408,028-2,436,652 Size: 28,625 Coding Exon Count: 22 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:2,407,728-2,436,971)mRNA (may differ from genome)Protein (1416 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PLCH2_HUMAN
DESCRIPTION: RecName: Full=1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-2; EC=3.1.4.11; AltName: Full=Phosphoinositide phospholipase C-eta-2; AltName: Full=Phosphoinositide phospholipase C-like 4; Short=PLC-L4; Short=Phospholipase C-like protein 4; AltName: Full=Phospholipase C-eta-2; Short=PLC-eta2;
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).
CATALYTIC ACTIVITY: 1-phosphatidyl-1D-myo-inositol 4,5- bisphosphate + H(2)O = 1D-myo-inositol 1,4,5-trisphosphate + diacylglycerol.
COFACTOR: Calcium (By similarity).
SUBCELLULAR LOCATION: Cytoplasm. Cell membrane. Note=Localized predominantly at the plasma membrane (By similarity).
TISSUE SPECIFICITY: Expressed in retina and kidney.
SIMILARITY: Contains 1 C2 domain.
SIMILARITY: Contains 2 EF-hand domains.
SIMILARITY: Contains 1 PH domain.
SIMILARITY: Contains 1 PI-PLC X-box domain.
SIMILARITY: Contains 1 PI-PLC Y-box domain.
SEQUENCE CAUTION: Sequence=AAH43358.1; Type=Frameshift; Positions=172; Sequence=BAA32295.3; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=BAC56932.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: PLCH2
Diseases sorted by gene-association score: chromosome 1p36 deletion syndrome (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 67.90 RPKM in Brain - Cerebellum
Total median expression: 425.79 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -149.70300-0.499 Picture PostScript Text
3' UTR -132.00319-0.414 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000008 - C2_Ca-dep
IPR008973 - C2_Ca/lipid-bd_dom_CaLB
IPR018029 - C2_membr_targeting
IPR011992 - EF-hand-like_dom
IPR018247 - EF_Hand_1_Ca_BS
IPR018249 - EF_HAND_2
IPR002048 - EF_hand_Ca-bd
IPR011993 - PH_like_dom
IPR001192 - Pinositol_PLipase_C
IPR017946 - PLC-like_Pdiesterase_TIM-brl
IPR001849 - Pleckstrin_homology
IPR015359 - PLipase_C_EF-hand-like
IPR000909 - PLipase_C_PInositol-sp_X_dom
IPR001711 - PLipase_C_Pinositol-sp_Y

Pfam Domains:
PF00168 - C2 domain
PF00387 - Phosphatidylinositol-specific phospholipase C, Y domain
PF00388 - Phosphatidylinositol-specific phospholipase C, X domain
PF09279 - Phosphoinositide-specific phospholipase C, efhand-like
PF13202 - EF hand
PF13499 - EF-hand domain pair
PF13833 - EF-hand domain pair
PF16457 - Pleckstrin homology domain

SCOP Domains:
47473 - EF-hand
50729 - PH domain-like
49562 - C2 domain (Calcium/lipid-binding domain, CaLB)
51695 - PLC-like phosphodiesterases

ModBase Predicted Comparative 3D Structure on O75038
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003674 molecular_function
GO:0004435 phosphatidylinositol phospholipase C activity
GO:0004629 phospholipase C activity
GO:0004871 signal transducer activity
GO:0005509 calcium ion binding
GO:0008081 phosphoric diester hydrolase activity
GO:0016787 hydrolase activity
GO:0046872 metal ion binding

Biological Process:
GO:0006629 lipid metabolic process
GO:0007165 signal transduction
GO:0008150 biological_process
GO:0016042 lipid catabolic process
GO:0035556 intracellular signal transduction
GO:0043647 inositol phosphate metabolic process
GO:0046488 phosphatidylinositol metabolic process

Cellular Component:
GO:0005575 cellular_component
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0016020 membrane


-  Descriptions from all associated GenBank mRNAs
  AK122591 - Homo sapiens FLJ00417 mRNA for FLJ00417 protein, partial cds.
AB527145 - Synthetic construct DNA, clone: pF1KF0417, Homo sapiens PLCH2 gene for phospholipase C, eta 2, without stop codon, in Flexi system.
AB007919 - Homo sapiens KIAA0450 mRNA for KIAA0450 protein.
DQ176850 - Homo sapiens phospholipase C-eta2 (PLC-eta2) mRNA, complete cds.
BC144620 - Homo sapiens cDNA clone IMAGE:9053151.
AK122589 - Homo sapiens mRNA for FLJ00414 protein.
BC128207 - Homo sapiens phospholipase C, eta 2, mRNA (cDNA clone IMAGE:40114303), partial cds.
BC128208 - Homo sapiens phospholipase C, eta 2, mRNA (cDNA clone IMAGE:40114307), partial cds.
BC043358 - Homo sapiens phospholipase C, eta 2, mRNA (cDNA clone IMAGE:3904894), partial cds.
AB527144 - Synthetic construct DNA, clone: pF1KF0414, Homo sapiens PLCH2 gene for phospholipase C, eta 2, without stop codon, in Flexi system.
AK074149 - Homo sapiens mRNA for FLJ00222 protein.
BC019679 - Homo sapiens phospholipase C, eta 2, mRNA (cDNA clone IMAGE:4932488), partial cds.
JD200829 - Sequence 181853 from Patent EP1572962.
JD540442 - Sequence 521466 from Patent EP1572962.
BC037356 - Homo sapiens phospholipase C, eta 2, mRNA (cDNA clone IMAGE:4645721), with apparent retained intron.
BC044630 - Homo sapiens phospholipase C, eta 2, mRNA (cDNA clone IMAGE:3356069).
JD123386 - Sequence 104410 from Patent EP1572962.
JD408566 - Sequence 389590 from Patent EP1572962.
JD058398 - Sequence 39422 from Patent EP1572962.
BC050037 - Homo sapiens phospholipase C, eta 2, mRNA (cDNA clone IMAGE:4748635), partial cds.
JD199385 - Sequence 180409 from Patent EP1572962.
JD364807 - Sequence 345831 from Patent EP1572962.
JD474654 - Sequence 455678 from Patent EP1572962.
JD203628 - Sequence 184652 from Patent EP1572962.
JD373016 - Sequence 354040 from Patent EP1572962.
JD392734 - Sequence 373758 from Patent EP1572962.
JD083793 - Sequence 64817 from Patent EP1572962.
JD217354 - Sequence 198378 from Patent EP1572962.
JD464406 - Sequence 445430 from Patent EP1572962.
JD416344 - Sequence 397368 from Patent EP1572962.
JD128414 - Sequence 109438 from Patent EP1572962.
JD059340 - Sequence 40364 from Patent EP1572962.
JD115029 - Sequence 96053 from Patent EP1572962.
JD441326 - Sequence 422350 from Patent EP1572962.
JD328815 - Sequence 309839 from Patent EP1572962.
JD071176 - Sequence 52200 from Patent EP1572962.
JD395243 - Sequence 376267 from Patent EP1572962.
JD092203 - Sequence 73227 from Patent EP1572962.
JD373076 - Sequence 354100 from Patent EP1572962.
JD402086 - Sequence 383110 from Patent EP1572962.
JD453211 - Sequence 434235 from Patent EP1572962.
JD470522 - Sequence 451546 from Patent EP1572962.
JD128053 - Sequence 109077 from Patent EP1572962.
JD454216 - Sequence 435240 from Patent EP1572962.
JD231948 - Sequence 212972 from Patent EP1572962.
JD435062 - Sequence 416086 from Patent EP1572962.
JD232482 - Sequence 213506 from Patent EP1572962.
JD283728 - Sequence 264752 from Patent EP1572962.
JD417023 - Sequence 398047 from Patent EP1572962.
JD271655 - Sequence 252679 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
LIPASYN-PWY - phospholipases
PWY-6351 - D-myo-inositol (1,4,5)-trisphosphate biosynthesis
PWY-6367 - D-myo-inositol-5-phosphate metabolism
PWY-6371 - superpathway of inositol phosphate compounds

Reactome (by CSHL, EBI, and GO)

Protein O75038 (Reactome details) participates in the following event(s):

R-HSA-1855221 PI(4,5)P2 is hydrolysed to I(1,4,5)P3 and DAG by tethered PLC[1] at the plasma membrane
R-HSA-1855204 Synthesis of IP3 and IP4 in the cytosol
R-HSA-1483249 Inositol phosphate metabolism
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: A2VCM3, B9DI80, ENST00000378486.1, ENST00000378486.2, ENST00000378486.3, ENST00000378486.4, ENST00000378486.5, ENST00000378486.6, ENST00000378486.7, KIAA0450, NM_014638, O75038, PLCH2 , PLCH2_HUMAN, PLCL4, Q3LUA8, Q86XJ2, Q86XU1, Q86YU7, Q8TEH5, Q8WUS6, uc318oif.1, uc318oif.2
UCSC ID: ENST00000378486.8_9
RefSeq Accession: NM_014638.4
Protein: O75038 (aka PLCH2_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.