• Gene id: 50640

Gene Summary

• Gene Symbol: PNPLA8   Gene   UCSC   Ensembl
• Aliases: IPLA2-2, IPLA2G, MMLA, PNPLA-gamma, iPLA2gamma
• Gene name: patatin like phospholipase domain containing 8
• Alternate names: calcium-independent phospholipase A2-gamma, intracellular membrane-associated calcium-independent phospholipase A2 gamma, membrane-associated calcium-independent phospholipase A2 gamma,
• Gene location: 7q31.1 (108528177: 108470416)     Exons: 14     NC_000007.14
• Gene summary(Entrez): This gene encodes a member of the patatin-like phospholipase domain containing protein family. Members of this family are phospholipases which catalyze the cleavage of fatty acids from membrane phospholipids. The product of this gene is a calcium-independ
• OMIM: 612123

Protein Summary

• Protein general information: Q9NP80  
  • Name: Calcium independent phospholipase A2 gamma (EC 3.1.1.5) (Intracellular membrane associated calcium independent phospholipase A2 gamma) (iPLA2 gamma) (PNPLA gamma) (Patatin like phospholipase domain containing protein 8) (iPLA2 2)
  • Length: 782  
  • Mass: 88477
  • Tissue specificity: Expressed in parenchymal tissues including heart, skeletal muscle, placenta, brain, liver and pancreas. Also expressed in bronchial epithelial cells and kidney. Highest expression is observed in skeletal muscle and heart. {ECO
• Sequence:

  MSINLTVDIYIYLLSNARSVCGKQRSKQLYFLFSPKHYWRISHISLQRGFHTNIIRCKWTKSEAHSCSKHCYSPS
  NHGLHIGILKLSTSAPKGLTKVNICMSRIKSTLNSVSKAVFGNQNEMISRLAQFKPSSQILRKVSDSGWLKQKNI
  KQAIKSLKKYSDKSAEKSPFPEEKSHIIDKEEDIGKRSLFHYTSSITTKFGDSFYFLSNHINSYFKRKEKMSQQK
  ENEHFRDKSELEDKKVEEGKLRSPDPGILAYKPGSESVHTVDKPTSPSAIPDVLQVSTKQSIANFLSRPTEGVQA
  LVGGYIGGLVPKLKYDSKSQSEEQEEPAKTDQAVSKDRNAEEKKRLSLQREKIIARVSIDNRTRALVQALRRTTD
  PKLCITRVEELTFHLLEFPEGKGVAVKERIIPYLLRLRQIKDETLQAAVREILALIGYVDPVKGRGIRILSIDGG
  GTRGVVALQTLRKLVELTQKPVHQLFDYICGVSTGAILAFMLGLFHMPLDECEELYRKLGSDVFSQNVIVGTVKM
  SWSHAFYDSQTWENILKDRMGSALMIETARNPTCPKVAAVSTIVNRGITPKAFVFRNYGHFPGINSHYLGGCQYK
  MWQAIRASSAAPGYFAEYALGNDLHQDGGLLLNNPSALAMHECKCLWPDVPLECIVSLGTGRYESDVRNTVTYTS
  LKTKLSNVINSATDTEEVHIMLDGLLPPDTYFRFNPVMCENIPLDESRNEKLDQLQLEGLKYIERNEQKMKKVAK
  ILSQEKTTLQKINDWIKLKTDMYEGLPFFSKL

• Structural information:
  • Protein Domains: (445..64-)
    (/note="PNPLA-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01161"-)
  • Interpro: IPR016035  IPR002641  
  • Prosite: PS51635
  • STRING: ENSP00000410804
• Other Databases: GeneCards:  PNPLA8  Malacards:  PNPLA8

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006631	fatty acid metabolic process	IBA	biological process
GO:0016020	membrane	IBA	cellular component
GO:0019369	arachidonic acid metabolic process	IBA	biological process
GO:0047499	calcium-independent phospholipase A2 activity	IBA	molecular function
GO:0004620	phospholipase activity	IBA	molecular function
GO:0047499	calcium-independent phospholipase A2 activity	IDA	molecular function
GO:0070328	triglyceride homeostasis	IMP	biological process
GO:0055088	lipid homeostasis	IMP	biological process
GO:0005739	mitochondrion	ISS	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0043231	intracellular membrane-bounded organelle	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0016042	lipid catabolic process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005777	peroxisome	IEA	cellular component
GO:0102545	phosphatidyl phospholipase B activity	IEA	molecular function
GO:0004622	lysophospholipase activity	IEA	molecular function
GO:0036152	phosphatidylethanolamine acyl-chain remodeling	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0036151	phosphatidylcholine acyl-chain remodeling	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0031090	organelle membrane	IEA	cellular component
GO:0031966	mitochondrial membrane	IEA	cellular component
GO:0005778	peroxisomal membrane	IEA	cellular component
GO:0046338	phosphatidylethanolamine catabolic process	IDA	biological process
GO:0043651	linoleic acid metabolic process	IDA	biological process
GO:0050482	arachidonic acid secretion	IDA	biological process
GO:0050482	arachidonic acid secretion	IDA	biological process
GO:0047499	calcium-independent phospholipase A2 activity	IDA	molecular function
GO:0019369	arachidonic acid metabolic process	IDA	biological process
GO:0019369	arachidonic acid metabolic process	IDA	biological process
GO:0016020	membrane	IDA	cellular component
GO:0008219	cell death	IDA	biological process
GO:0005778	peroxisomal membrane	IDA	cellular component
GO:0005777	peroxisome	IDA	cellular component
GO:0001516	prostaglandin biosynthetic process	IDA	biological process
GO:0047499	calcium-independent phospholipase A2 activity	IDA	molecular function
GO:0047499	calcium-independent phospholipase A2 activity	IDA	molecular function
GO:0034638	phosphatidylcholine catabolic process	IDA	biological process
GO:0006631	fatty acid metabolic process	IDA	biological process
GO:0005524	ATP binding	NAS	molecular function

Diseases

Associated diseases	References
Mitochondrial myopathy with lactic acidosis	KEGG:H02201
Mitochondrial myopathy with lactic acidosis	KEGG:H02201
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)