• Gene id: 5051

Gene Summary

• Gene Symbol: PAFAH2   Gene   UCSC   Ensembl
• Aliases: HSD-PLA2
• Gene name: platelet activating factor acetylhydrolase 2
• Alternate names: platelet-activating factor acetylhydrolase 2, cytoplasmic, SD-PLA2, platelet-activating factor acetylhydrolase 2, 40kDa, serine-dependent phospholipase A2,
• Gene location: 1p36.11 (99817861: 100181731)     Exons: 11     NC_000003.12
• Gene summary(Entrez): This gene encodes platelet-activating factor acetylhydrolase isoform 2, a single-subunit intracellular enzyme that catalyzes the removal of the acetyl group at the SN-2 position of platelet-activating factor (identified as 1-O-alkyl-2-acetyl-sn-glyceryl-3
• OMIM: 602344

SNPs

rs1237691411

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

NC_000012.12   g.101737863A>G
NC_000012.11   g.102131641A>G
NG_021181.1   g.6607T>C
NM_153694.4   c.73T>C
NM_001177949.2   c.73T>C
NM_001177949.1   c.73T>C
NM_001177948.1   c.73T>C
XM_005268922.5   c.313T>C
XM_005268922.1   c.313T>C
XM_005268926.4   c.73T>C
XM_005268926  

Protein Summary

• Protein general information: Q99487  
  • Name: Platelet activating factor acetylhydrolase 2, cytoplasmic (EC 3.1.1.47) (Serine dependent phospholipase A2) (SD PLA2) (hSD PLA2)
  • Length: 392  
  • Mass: 44036
  • Tissue specificity: Broadly expressed in different tissues, but high in B- and T-lymphocytes. In brain, expression is restricted to amygdala and frontal cortex. {ECO
• Sequence:

  MGVNQSVGFPPVTGPHLVGCGDVMEGQNLQGSFFRLFYPCQKAEETMEQPLWIPRYEYCTGLAEYLQFNKRCGGL
  LFNLAVGSCRLPVSWNGPFKTKDSGYPLIIFSHGLGAFRTLYSAFCMELASRGFVVAVPEHRDRSAATTYFCKQA
  PEENQPTNESLQEEWIPFRRVEEGEKEFHVRNPQVHQRVSECLRVLKILQEVTAGQTVFNILPGGLDLMTLKGNI
  DMSRVAVMGHSFGGATAILALAKETQFRCAVALDAWMFPLERDFYPKARGPVFFINTEKFQTMESVNLMKKICAQ
  HEQSRIITVLGSVHRSQTDFAFVTGNLIGKFFSTETRGSLDPYEGQEVMVRAMLAFLQKHLDLKEDYNQWNNLIE
  GIGPSLTPGAPHHLSSL

• Structural information:
  • Interpro: IPR029058  IPR005065  IPR016715  
  • Prosite: PS00120
  • STRING: ENSP00000363400
• Other Databases: GeneCards:  PAFAH2  Malacards:  PAFAH2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003847	1-alkyl-2-acetylglycerophosphocholine esterase activity	IBA	molecular function
GO:0003847	1-alkyl-2-acetylglycerophosphocholine esterase activity	IEA	molecular function
GO:0016042	lipid catabolic process	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0016042	lipid catabolic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0005543	phospholipid binding	TAS	molecular function
GO:0006629	lipid metabolic process	TAS	biological process
GO:0003847	1-alkyl-2-acetylglycerophosphocholine esterase activity	IEA	molecular function
GO:0003847	1-alkyl-2-acetylglycerophosphocholine esterase activity	TAS	molecular function
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0007596	blood coagulation	TAS	biological process
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0003847	1-alkyl-2-acetylglycerophosphocholine esterase activity	IEA	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00565	Ether lipid metabolism

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881