Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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9651 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Phospholipase C eta 2 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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PLCH2 |
SynonymsGene synonyms aliases
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PLC-L4, PLC-eta2, PLCL4, PLCeta2 |
ChromosomeChromosome number
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1 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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1p36.32 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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 16107 |
miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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UniProt ID |
O75038 |
Protein name |
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-2 (EC 3.1.4.11) (Phosphoinositide phospholipase C-eta-2) (Phosphoinositide phospholipase C-like 4) (PLC-L4) (Phospholipase C-like protein 4) (Phospholipase C-eta-2) (PLC-eta2) |
Protein 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 (PubMed:18361507). This phospholipase activity is very se |
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF16457 |
PH_12 |
41 → 155 |
Pleckstrin homology domain |
Domain |
PF09279 |
EF-hand_like |
234 → 319 |
Phosphoinositide-specific phospholipase C, efhand-like |
Domain |
PF00388 |
PI-PLC-X |
328 → 472 |
Phosphatidylinositol-specific phospholipase C, X domain |
Family |
PF00387 |
PI-PLC-Y |
626 → 738 |
Phosphatidylinositol-specific phospholipase C, Y domain |
Family |
PF00168 |
C2 |
758 → 867 |
C2 domain |
Domain |
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Sequence |
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Sequence length |
1416 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Azoospermia |
Azoospermia |
rs200969445, rs144567652, rs765353898 |
22197933 |
Non-obstructive azoospermia |
Non-obstructive azoospermia |
rs587777872, rs879253743, rs1600840291, rs1600877766, rs753462162, rs1588618614, rs1602684496, rs377712900 |
22197933 |
Schizophrenia |
Schizophrenia |
rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 |
25056061, 26198764, 29483656, 31268507 |
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