• Gene id: 5338

Gene Summary

• Gene Symbol: PLD2   Gene   UCSC   Ensembl
• Aliases: PLD1C
• Gene name: phospholipase D2
• Alternate names: phospholipase D2, choline phosphatase 2, phosphatidylcholine-hydrolyzing phospholipase D2,
• Gene location: 17p13.2 (4807151: 4823431)     Exons: 25     NC_000017.11
• Gene summary(Entrez): The protein encoded by this gene catalyzes the hydrolysis of phosphatidylcholine to phosphatidic acid and choline. The activity of the encoded enzyme is enhanced by phosphatidylinositol 4,5-bisphosphate and ADP-ribosylation factor-1. This protein localize
• OMIM: 603066

Protein Summary

• Protein general information: O14939  
  • Name: Phospholipase D2 (PLD 2) (hPLD2) (EC 3.1.4.4) (Choline phosphatase 2) (PLD1C) (Phosphatidylcholine hydrolyzing phospholipase D2)
  • Length: 933  
  • Mass: 105987
  • Tissue specificity: Ubiquitous.
• Sequence:

  MTATPESLFPTGDELDSSQLQMESDEVDTLKEGEDPADRMHPFLAIYELQSLKVHPLVFAPGVPVTAQVVGTERY
  TSGSKVGTCTLYSVRLTHGDFSWTTKKKYRHFQELHRDLLRHKVLMSLLPLARFAVAYSPARDAGNREMPSLPRA
  GPEGSTRHAASKQKYLENYLNRLLTMSFYRNYHAMTEFLEVSQLSFIPDLGRKGLEGMIRKRSGGHRVPGLTCCG
  RDQVCYRWSKRWLVVKDSFLLYMCLETGAISFVQLFDPGFEVQVGKRSTEARHGVRIDTSHRSLILKCSSYRQAR
  WWAQEITELAQGPGRDFLQLHRHDSYAPPRPGTLARWFVNGAGYFAAVADAILRAQEEIFITDWWLSPEVYLKRP
  AHSDDWRLDIMLKRKAEEGVRVSILLFKEVELALGINSGYSKRALMLLHPNIKVMRHPDQVTLWAHHEKLLVVDQ
  VVAFLGGLDLAYGRWDDLHYRLTDLGDSSESAASQPPTPRPDSPATPDLSHNQFFWLGKDYSNLITKDWVQLDRP
  FEDFIDRETTPRMPWRDVGVVVHGLPARDLARHFIQRWNFTKTTKAKYKTPTYPYLLPKSTSTANQLPFTLPGGQ
  CTTVQVLRSVDRWSAGTLENSILNAYLHTIRESQHFLYIENQFFISCSDGRTVLNKVGDEIVDRILKAHKQGWCY
  RVYVLLPLLPGFEGDISTGGGNSIQAILHFTYRTLCRGEYSILHRLKAAMGTAWRDYISICGLRTHGELGGHPVS
  ELIYIHSKVLIADDRTVIIGSANINDRSLLGKRDSELAVLIEDTETEPSLMNGAEYQAGRFALSLRKHCFGVILG
  ANTRPDLDLRDPICDDFFQLWQDMAESNANIYEQIFRCLPSNATRSLRTLREYVAVEPLATVSPPLARSELTQVQ
  GHLVHFPLKFLEDESLLPPLGSKEGMIPLEVWT

• Structural information:
  • Protein Domains: (65..19-)
    (/note="PX-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00147-)
    (203..31-)
    (/note="PH-)
    (437..46-)
    1 (/note="PLD-phosphodiesterase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00153-)
    (751..77-)
    (/note="PLD-phosphodiester)
  • Interpro: IPR011993  IPR001849  IPR001683  IPR025202  IPR001736   IPR016555  IPR015679  IPR036871  
  • Prosite: PS50035 PS50195
  • DIP: 38903
  • STRING: ENSP00000263088
• Other Databases: GeneCards:  PLD2  Malacards:  PLD2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0036465	synaptic vesicle recycling	TAS	biological process
GO:0048870	cell motility	IBA	biological process
GO:0009395	phospholipid catabolic process	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0004630	phospholipase D activity	IBA	molecular function
GO:0006654	phosphatidic acid biosynthetic process	IEA	biological process
GO:0048017	inositol lipid-mediated signaling	IEA	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0004630	phospholipase D activity	IEA	molecular function
GO:0035091	phosphatidylinositol binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0016042	lipid catabolic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0004630	phospholipase D activity	TAS	molecular function
GO:0007010	cytoskeleton organization	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0007264	small GTPase mediated signal transduction	TAS	biological process
GO:0070290	N-acylphosphatidylethanolamine-specific phospholipase D activity	IEA	molecular function
GO:0004630	phospholipase D activity	IEA	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0006654	phosphatidic acid biosynthetic process	TAS	biological process
GO:0038096	Fc-gamma receptor signaling pathway involved in phagocytosis	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0098793	presynapse	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa05200	Pathways in cancer
hsa04144	Endocytosis
hsa04014	Ras signaling pathway
hsa04024	cAMP signaling pathway
hsa04072	Phospholipase D signaling pathway
hsa04724	Glutamatergic synapse
hsa04071	Sphingolipid signaling pathway
hsa00564	Glycerophospholipid metabolism
hsa05231	Choline metabolism in cancer
hsa04928	Parathyroid hormone synthesis, secretion and action
hsa04666	Fc gamma R-mediated phagocytosis
hsa04912	GnRH signaling pathway
hsa05212	Pancreatic cancer
hsa00565	Ether lipid metabolism

Diseases

Associated diseases	References
renal cell carcinoma	PMID:11185526
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq