Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9651
Gene name Gene Name - the full gene name approved by the HGNC.
Phospholipase C eta 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PLCH2
Synonyms (NCBI Gene) Gene synonyms aliases
PLC-L4, PLC-eta2, PLCL4, PLCeta2
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p36.32
Summary Summary of gene provided in NCBI Entrez 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 16107
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT029064 hsa-miR-26b-5p Microarray 19088304
MIRT043301 hsa-miR-331-3p CLASH 23622248
MIRT2070585 hsa-miR-1321 CLIP-seq
MIRT2070586 hsa-miR-1909 CLIP-seq
MIRT2070587 hsa-miR-4419a CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004435 Function Phosphatidylinositol phospholipase C activity IBA 21873635
GO:0004435 Function Phosphatidylinositol phospholipase C activity IDA 18361507
GO:0005509 Function Calcium ion binding IEA
GO:0005575 Component Cellular_component ND
GO:0005737 Component Cytoplasm IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
612836 29037 ENSG00000149527
Protein
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
Tissue specificity TISSUE SPECIFICITY: Expressed in retina and kidney. {ECO:0000269|PubMed:16107206}.
Sequence
MSGPWPSPDSRTKGTVAWLAEVLLWVGGSVVLSSEWQLGPLVERCMGAMQEGMQMVKLRG
GSKGLVRFYYLDEHRSCIRWRPSRKNEKAKISIDSIQEVSEGRQSEVFQRYPDGSFDPNC
CFSIYHGSHRESLDLVSTSSEVARTWVTGLRYLMA
GISDEDSLARRQRTRDQWLKQTFDE
ADKNGDGSLSIGEVLQLLHKLNVNLPRQRVKQMFREADTDDHQGTLGFEEFCAFYKMMST
RRDLYLLMLTYSNHKDHLDAASLQRFLQVEQKMAGVTLESCQDIIEQFEPCPENKSKGLL
GIDGFTNYTRSPAGDIFNP
EHHHVHQDMTQPLSHYFITSSHNTYLVGDQLMSQSRVDMYA
WVLQAGCRCVEVDCWDGPDGEPIVHHGYTLTSKILFKDVIETINKYAFIKNEYPVILSIE
NHCSVIQQKKMAQYLTDILGDKLDLSSVSSEDATTLPSPQMLKGKILVKGKK
LPANISED
AEEGEVSDEDSADEIDDDCKLLNGDASTNRKRVENTAKRKLDSLIKESKIRDCEDPNNFS
VSTLSPSGKLGRKSKAEEDVESGEDAGASRRNGRLVVGSFSRRKKKGSKLKKAASVEEGD
EGQDSPGGQSRGATRQKKTMKLSRALSDLVKYTKSVATHDIEMEAASSWQVSSFSETKAH
QILQQKPAQYLRFNQQQLSRIYPSSYRVDSSNYNPQPFWNAGCQMVALNYQSEGRMLQLN
RAKFSANGGCGYVLKPGC
MCQGVFNPNSEDPLPGQLKKQLVLRIISGQQLPKPRDSMLGD
RGEIIDPFVEVEIIGLPVDCSREQTRVVDDNGFNPTWEETLVFMVHMPEIALVRFLVWDH
DPIGRDFIGQRTLAFSSMMPGYRHVYL
EGMEEASIFVHVAVSDISGKVKQALGLKGLFLR
GPKPGSLDSHAAGRPPARPSVSQRILRRTASAPTKSQKPGRRGFPELVLGTRDTGSKGVA
DDVVPPGPGPAPEAPAQEGPGSGSPRDTRPLSTQRPLPPLCSLETIAEEPAPGPGPPPPA
AVPTSSSQGRPPYPTGPGANVASPLEDTEEPRDSRPRPCNGEGAGGAYERAPGSQTDGRS
QPRTLGHLPVIRRVKSEGQVPTEPLGGWRPLAAPFPAPAVYSDATGSDPLWQRLEPCGHR
DSVSSSSSMSSSDTVIDLSLPSLGLGRSRENLAGAHMGRLPPRPHSASAARPDLPPVTKS
KSNPNLRATGQRPPIPDELQPRSLAPRMAGLPFRPPWGCLSLVGVQDCPVAAKSKSLGDL
TADDFAPSFEGGSRRLSHSLGLPGGTRRVSGPGVRRDTLTEQLRWLTVFQQAGDITSPTS
LGPAGEGVAGGPGFVRRSSSRSHSRVRAIASRARQAQERQQRLQGLGRQGPPEEERGTPE
GACSVGHEGSVDAPAPSKGALGPASAAAENLVLLRL
Sequence length 1416
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Inositol phosphate metabolism
Metabolic pathways
  Synthesis of IP3 and IP4 in the cytosol
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name 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 rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346
View all (12 more)
25056061, 26198764, 29483656, 31268507
Associations from Text Mining
Disease Name Relationship Type References
Bladder Exstrophy Associate 34355505