• Gene id: 8398

Gene Summary

• Gene Symbol: PLA2G6   Gene   UCSC   Ensembl
• Aliases: CaI-PLA2, GVI, INAD1, IPLA2-VIA, NBIA2, NBIA2A, NBIA2B, PARK14, PLA2, PNPLA9, iPLA2, iPLA2beta
• Gene name: phospholipase A2 group VI
• Alternate names: 85/88 kDa calcium-independent phospholipase A2, 85 kDa calcium-independent phospholipase A2, GVI PLA2, iPLA2-beta, intracellular membrane-associated calcium-independent phospholipase A2 beta, neurodegeneration with brain iron accumulation 2, patatin-like ,
• Gene location: 22q13.1 (38192099: 38111494)     Exons: 28     NC_000022.11
• Gene summary(Entrez): The protein encoded by this gene is an A2 phospholipase, a class of enzyme that catalyzes the release of fatty acids from phospholipids. The encoded protein may play a role in phospholipid remodelling, arachidonic acid release, leukotriene and prostagland
• OMIM: 603604

Protein Summary

• Protein general information: O60733  
  • Name: 85/88 kDa calcium independent phospholipase A2 (CaI PLA2) (EC 3.1.1.4) (Group VI phospholipase A2) (GVI PLA2) (Intracellular membrane associated calcium independent phospholipase A2 beta) (iPLA2 beta) (Patatin like phospholipase domain containing protein
  • Length: 806  
  • Mass: 89,903
• Sequence:

  MQFFGRLVNTFSGVTNLFSNPFRVKEVAVADYTSSDRVREEGQLILFQNTPNRTWDCVLVNPRNSQSGFRLFQLE
  LEADALVNFHQYSSQLLPFYESSPQVLHTEVLQHLTDLIRNHPSWSVAHLAVELGIRECFHHSRIISCANCAENE
  EGCTPLHLACRKGDGEILVELVQYCHTQMDVTDYKGETVFHYAVQGDNSQVLQLLGRNAVAGLNQVNNQGLTPLH
  LACQLGKQEMVRVLLLCNARCNIMGPNGYPIHSAMKFSQKGCAEMIISMDSSQIHSKDPRYGASPLHWAKNAEMA
  RMLLKRGCNVNSTSSAGNTALHVAVMRNRFDCAIVLLTHGANADARGEHGNTPLHLAMSKDNVEMIKALIVFGAE
  VDTPNDFGETPTFLASKIGRLVTRKAILTLLRTVGAEYCFPPIHGVPAEQGSAAPHHPFSLERAQPPPISLNNLE
  LQDLMHISRARKPAFILGSMRDEKRTHDHLLCLDGGGVKGLIIIQLLIAIEKASGVATKDLFDWVAGTSTGGILA
  LAILHSKSMAYMRGMYFRMKDEVFRGSRPYESGPLEEFLKREFGEHTKMTDVRKPKVMLTGTLSDRQPAELHLFR
  NYDAPETVREPRFNQNVNLRPPAQPSDQLVWRAARSSGAAPTYFRPNGRFLDGGLLANNPTLDAMTEIHEYNQDL
  IRKGQANKVKKLSIVVSLGTGRSPQVPVTCVDVFRPSNPWELAKTVFGAKELGKMVVDCCTDPDGRAVDRARAWC
  EMVGIQYFRLNPQLGTDIMLDEVSDTVLVNALWETEVYIYEHREEFQKLIQLLLSP

• Structural information:
  • Protein Domains: PNPLA. (481-665)
  • Interpro: IPR016035  IPR002110  IPR020683  IPR036770  IPR002641  
  • Prosite: PS50297 PS50088 PS51635
  • CDD: cd00204
  • STRING: ENSP00000333142
• Other Databases: GeneCards:  PLA2G6  Malacards:  PLA2G6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001934	positive regulation of protein phosphorylation	IEA	biological process
GO:0004623	phospholipase A2 activity	TAS	molecular function
GO:0004623	phospholipase A2 activity	TAS	molecular function
GO:0004623	phospholipase A2 activity	TAS	molecular function
GO:0005516	calmodulin binding	IEA	molecular function
GO:0005615	extracellular space	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005815	microtubule organizing center	IDA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006935	chemotaxis	IEA	biological process
GO:0007204	positive regulation of cytosolic calcium ion concentration	IEA	biological process
GO:0007613	memory	IEA	biological process
GO:0014832	urinary bladder smooth muscle contraction	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016042	lipid catabolic process	IEA	biological process
GO:0016787	hydrolase activity	TAS	molecular function
GO:0019731	antibacterial humoral response	IDA	biological process
GO:0019901	protein kinase binding	IEA	molecular function
GO:0032049	cardiolipin biosynthetic process	IMP	biological process
GO:0034976	response to endoplasmic reticulum stress	IEA	biological process
GO:0035774	positive regulation of insulin secretion involved in cellular response to glucose stimulus	IEA	biological process
GO:0036151	phosphatidylcholine acyl-chain remodeling	TAS	biological process
GO:0036152	phosphatidylethanolamine acyl-chain remodeling	TAS	biological process
GO:0038096	Fc-gamma receptor signaling pathway involved in phagocytosis	TAS	biological process
GO:0043008	ATP-dependent protein binding	IEA	molecular function
GO:0045909	positive regulation of vasodilation	IEA	biological process
GO:0045921	positive regulation of exocytosis	IEA	biological process
GO:0047499	calcium-independent phospholipase A2 activity	IEA	molecular function
GO:0051967	negative regulation of synaptic transmission, glutamatergic	IEA	biological process
GO:0060135	maternal process involved in female pregnancy	IEA	biological process
GO:0090037	positive regulation of protein kinase C signaling	IEA	biological process
GO:0090200	positive regulation of release of cytochrome c from mitochondria	IEA	biological process
GO:0090238	positive regulation of arachidonic acid secretion	IEA	biological process
GO:1901339	regulation of store-operated calcium channel activity	IEA	biological process
GO:2000304	positive regulation of ceramide biosynthetic process	IEA	biological process
GO:0001934	positive regulation of protein phosphorylation	IEA	biological process
GO:0004623	phospholipase A2 activity	IEA	molecular function
GO:0004623	phospholipase A2 activity	TAS	molecular function
GO:0004623	phospholipase A2 activity	TAS	molecular function
GO:0004623	phospholipase A2 activity	TAS	molecular function
GO:0004623	phospholipase A2 activity	TAS	molecular function
GO:0005516	calmodulin binding	IEA	molecular function
GO:0005615	extracellular space	IDA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005815	microtubule organizing center	IDA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0006935	chemotaxis	IEA	biological process
GO:0007204	positive regulation of cytosolic calcium ion concentration	IEA	biological process
GO:0007613	memory	IEA	biological process
GO:0008152	metabolic process	IEA	biological process
GO:0014832	urinary bladder smooth muscle contraction	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016042	lipid catabolic process	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0016787	hydrolase activity	TAS	molecular function
GO:0019731	antibacterial humoral response	IDA	biological process
GO:0019901	protein kinase binding	IEA	molecular function
GO:0032049	cardiolipin biosynthetic process	IMP	biological process
GO:0034976	response to endoplasmic reticulum stress	IEA	biological process
GO:0035774	positive regulation of insulin secretion involved in cellular response to glucose stimulus	IEA	biological process
GO:0036151	phosphatidylcholine acyl-chain remodeling	TAS	biological process
GO:0036152	phosphatidylethanolamine acyl-chain remodeling	TAS	biological process
GO:0038096	Fc-gamma receptor signaling pathway involved in phagocytosis	TAS	biological process
GO:0043008	ATP-dependent protein binding	IEA	molecular function
GO:0045909	positive regulation of vasodilation	IEA	biological process
GO:0045921	positive regulation of exocytosis	IEA	biological process
GO:0047499	calcium-independent phospholipase A2 activity	IEA	molecular function
GO:0051967	negative regulation of synaptic transmission, glutamatergic	IEA	biological process
GO:0060135	maternal process involved in female pregnancy	IEA	biological process
GO:0090037	positive regulation of protein kinase C signaling	IEA	biological process
GO:0090200	positive regulation of release of cytochrome c from mitochondria	IEA	biological process
GO:0090238	positive regulation of arachidonic acid secretion	IEA	biological process
GO:1901339	regulation of store-operated calcium channel activity	IEA	biological process
GO:2000304	positive regulation of ceramide biosynthetic process	IEA	biological process
GO:0004623	phospholipase A2 activity	TAS	molecular function
GO:0004623	phospholipase A2 activity	TAS	molecular function
GO:0004623	phospholipase A2 activity	TAS	molecular function
GO:0004623	phospholipase A2 activity	TAS	molecular function
GO:0005615	extracellular space	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005815	microtubule organizing center	IDA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0016787	hydrolase activity	TAS	molecular function
GO:0019731	antibacterial humoral response	IDA	biological process
GO:0032049	cardiolipin biosynthetic process	IMP	biological process
GO:0036151	phosphatidylcholine acyl-chain remodeling	TAS	biological process
GO:0036152	phosphatidylethanolamine acyl-chain remodeling	TAS	biological process
GO:0038096	Fc-gamma receptor signaling pathway involved in phagocytosis	TAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04666	Fc gamma R-mediated phagocytosis
hsa04270	Vascular smooth muscle contraction
hsa04750	Inflammatory mediator regulation of TRP channels

Diseases

Associated diseases	References
Cancer (lung)	GAD: 18676680
Cancer (melanoma)	GAD: 19578364
Cancer	GAD: 21983787
Cancer (bladder)	GAD: 19692168
Neurodegenerative diseases	GAD: 18799783
Alzheimer's disease	GAD: 20464283
Parkinson disease	KEGG: H00057
Schizophrenia	GAD: 15318030
Asthenozoospermia	MIK: 21255775
Chronic obstructive pulmonary disease (COPD)	GAD: 19625176
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Asthenozoospermia	MIK: 21255775
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 15252026

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21255775	Asthenozoospermia	AKAP4 (c.887G>A -> p.Gly296Asn), CATSPER4 (c.247A>G -> p.Met83Val; c.157T>C -> p.Tyr53His; c.992G>A -> p.Gly331Asn), CATSPER1 (c.148G>A -> p.Val50Met), CATSPER3 (c.193T>C -> p.Phe65Leu), CATSPER2 (c.1289C>G -> p.Thr430Arg), PLA2G6 (c.187A>G -> p.Arg63Gly		30 men with isolated asthenozoospermia	Male infertility	ADCY10 AKAP4 CATSPER1 CATSPER2 CATSPER3 CATSPER4  GAPDHS PLA2G6 and SLC9A10
15252026	Spermatozoa with impaired motility and have greatly reduced fertility.				Male infertility
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
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