• Gene id: 9651

Gene Summary

• Gene Symbol: PLCH2   Gene   UCSC   Ensembl
• Aliases: PLC-L4, PLC-eta2, PLCL4, PLCeta2
• Gene name: phospholipase C eta 2
• Alternate names: 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-2, phosphoinositide phospholipase C-eta-2, phosphoinositide phospholipase C-like 4, phospholipase C-eta2, phospholipase C-like 4, phospholipase C-like protein 4,
• Gene location: 1p36.32 (2412480: 2505531)     Exons: 27     NC_000001.11
• Gene summary(Entrez): 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
• OMIM: 612836

SNPs

rs215702

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.32360046G>A
NC_000007.13   g.32399658G>A
NG_051183.1   g.73179C>T|SEQ=[G/A]|GENE=PDE1C

Protein Summary

• Protein general information: O75038  
  • 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)
  • Length: 1416  
  • Mass: 154668
  • Tissue specificity: Expressed in retina and kidney. {ECO
• Sequence:

  MSGPWPSPDSRTKGTVAWLAEVLLWVGGSVVLSSEWQLGPLVERCMGAMQEGMQMVKLRGGSKGLVRFYYLDEHR
  SCIRWRPSRKNEKAKISIDSIQEVSEGRQSEVFQRYPDGSFDPNCCFSIYHGSHRESLDLVSTSSEVARTWVTGL
  RYLMAGISDEDSLARRQRTRDQWLKQTFDEADKNGDGSLSIGEVLQLLHKLNVNLPRQRVKQMFREADTDDHQGT
  LGFEEFCAFYKMMSTRRDLYLLMLTYSNHKDHLDAASLQRFLQVEQKMAGVTLESCQDIIEQFEPCPENKSKGLL
  GIDGFTNYTRSPAGDIFNPEHHHVHQDMTQPLSHYFITSSHNTYLVGDQLMSQSRVDMYAWVLQAGCRCVEVDCW
  DGPDGEPIVHHGYTLTSKILFKDVIETINKYAFIKNEYPVILSIENHCSVIQQKKMAQYLTDILGDKLDLSSVSS
  EDATTLPSPQMLKGKILVKGKKLPANISEDAEEGEVSDEDSADEIDDDCKLLNGDASTNRKRVENTAKRKLDSLI
  KESKIRDCEDPNNFSVSTLSPSGKLGRKSKAEEDVESGEDAGASRRNGRLVVGSFSRRKKKGSKLKKAASVEEGD
  EGQDSPGGQSRGATRQKKTMKLSRALSDLVKYTKSVATHDIEMEAASSWQVSSFSETKAHQILQQKPAQYLRFNQ
  QQLSRIYPSSYRVDSSNYNPQPFWNAGCQMVALNYQSEGRMLQLNRAKFSANGGCGYVLKPGCMCQGVFNPNSED
  PLPGQLKKQLVLRIISGQQLPKPRDSMLGDRGEIIDPFVEVEIIGLPVDCSREQTRVVDDNGFNPTWEETLVFMV
  HMPEIALVRFLVWDHDPIGRDFIGQRTLAFSSMMPGYRHVYLEGMEEASIFVHVAVSDISGKVKQALGLKGLFLR
  GPKPGSLDSHAAGRPPARPSVSQRILRRTASAPTKSQKPGRRGFPELVLGTRDTGSKGVADDVVPPGPGPAPEAP
  AQEGPGSGSPRDTRPLSTQRPLPPLCSLETIAEEPAPGPGPPPPAAVPTSSSQGRPPYPTGPGANVASPLEDTEE
  PRDSRPRPCNGEGAGGAYERAPGSQTDGRSQPRTLGHLPVIRRVKSEGQVPTEPLGGWRPLAAPFPAPAVYSDAT
  GSDPLWQRLEPCGHRDSVSSSSSMSSSDTVIDLSLPSLGLGRSRENLAGAHMGRLPPRPHSASAARPDLPPVTKS
  KSNPNLRATGQRPPIPDELQPRSLAPRMAGLPFRPPWGCLSLVGVQDCPVAAKSKSLGDLTADDFAPSFEGGSRR
  LSHSLGLPGGTRRVSGPGVRRDTLTEQLRWLTVFQQAGDITSPTSLGPAGEGVAGGPGFVRRSSSRSHSRVRAIA
  SRARQAQERQQRLQGLGRQGPPEEERGTPEGACSVGHEGSVDAPAPSKGALGPASAAAENLVLLRL

• Structural information:
  • Protein Domains: (47..15-)
    (/note="PH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145-)
    (169..20-)
    (/note="EF-hand-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (205..24-)
    (/note="EF-hand-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448";-)
  • Interpro: IPR000008  IPR035892  IPR011992  IPR018247  IPR002048   IPR011993  IPR001849  IPR001192  IPR028393  IPR017946  IPR015359  IPR000909  IPR001711  
  • Prosite: PS50004 PS00018 PS50222 PS50003 PS50007 PS50008
  • STRING: ENSP00000367747
• Other Databases: GeneCards:  PLCH2  Malacards:  PLCH2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004435	phosphatidylinositol phospholipase C activity	IBA	molecular function
GO:0051209	release of sequestered calcium ion into cytosol	IBA	biological process
GO:0048015	phosphatidylinositol-mediated signaling	IBA	biological process
GO:0032959	inositol trisphosphate biosynthetic process	IBA	biological process
GO:0004435	phosphatidylinositol phospholipase C activity	IEA	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0007165	signal transduction	IEA	biological process
GO:0004629	phospholipase C activity	IEA	molecular function
GO:0006629	lipid metabolic process	IEA	biological process
GO:0008081	phosphoric diester hydrolase activity	IEA	molecular function
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0007165	signal transduction	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0016042	lipid catabolic process	IEA	biological process
GO:0004435	phosphatidylinositol phospholipase C activity	IEA	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0043647	inositol phosphate metabolic process	TAS	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0004629	phospholipase C activity	IEA	molecular function
GO:0046488	phosphatidylinositol metabolic process	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0008150	biological_process	ND	biological process
GO:0005575	cellular_component	ND	cellular component
GO:0003674	molecular_function	ND	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00562	Inositol phosphate metabolism

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Nonobstructive azoospermia	MIK: 23467743
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
23467743	Nonobstructive azoospermia	rs12097821, rs2477686, and rs10842262	Japanes e	1657 (490 NOA patients and 1167 fertile controls )	Male infertility	NGS
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray