Gene Gene information from NCBI Gene database.
Entrez ID 9651
Gene name Phospholipase C eta 2
Gene symbol PLCH2
Synonyms (NCBI Gene)
PLC-L4PLC-eta2PLCL4PLCeta2
Chromosome 1
Chromosome location 1p36.32
Summary 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.
50
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
GO ID Ontology Definition Evidence Reference
GO:0004435 Function Phosphatidylinositol-4,5-bisphosphate phospholipase C activity IBA
GO:0004435 Function Phosphatidylinositol-4,5-bisphosphate phospholipase C activity IDA 18361507
GO:0004435 Function Phosphatidylinositol-4,5-bisphosphate phospholipase C activity IEA
GO:0004629 Function Phospholipase C activity IEA
GO:0005509 Function Calcium ion binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612836 29037 ENSG00000149527
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
8
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Chronic lymphocytic leukemia/small lymphocytic lymphoma Benign rs142848828 RCV005871008
Clear cell carcinoma of kidney Benign rs142848828 RCV005871006
Familial cancer of breast Benign rs373933358 RCV005906707
Familial pancreatic carcinoma Benign rs142848828 RCV005871007
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Bladder Exstrophy Associate 34355505