PAFAH2 (platelet activating factor acetylhydrolase 2)

2014-11-01  

Identity

HGNC
LOCATION
1p36.11
LOCUSID
ALIAS
HSD-PLA2
FUSION GENES

Other Information

Locus ID:

NCBI: 5051
MIM: 602344
HGNC: 8579
Ensembl: ENSG00000158006

Variants:

dbSNP: 5051
ClinVar: 5051
TCGA: ENSG00000158006
COSMIC: PAFAH2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000158006ENST00000374282Q99487
ENSG00000158006ENST00000374284Q99487
ENSG00000158006ENST00000439092Q5SY00
ENSG00000158006ENST00000441420Q5SY01

Expression (GTEx)

0
5
10
15
20

Pathways

PathwaySourceExternal ID
Ether lipid metabolismKEGGko00565
Ether lipid metabolismKEGGhsa00565
Metabolic pathwaysKEGGhsa01100
HemostasisREACTOMER-HSA-109582
Platelet homeostasisREACTOMER-HSA-418346

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
112946212001Platelet-activating factor acetylhydrolases: broad substrate specificity and lipoprotein binding does not modulate the catalytic properties of the plasma enzyme.16
124063382002Identification of platelet-activating factor acetylhydrolase II in human skin.16
172727592007Neuroprotective role of transgenic PAF-acetylhydrolase II in mouse models of focal cerebral ischemia.7
166508702006A single nucleotide polymorphism in the plasma PAF acetylhydrolase gene and risk of atherosclerosis in Japanese patients with peripheral artery occlusive disease.4
171578592008Lipoprotein-associated phospholipase A2 concentrations in plasma are associated with the extent of coronary artery disease and correlate to adipose tissue levels of marine n-3 fatty acids.4
267913932016"Association between platelet activating factor acetylhydrolase and diabetic retinopathy: Does inflammation affect the retinal status?".2
257073582015Oligomeric state regulated trafficking of human platelet-activating factor acetylhydrolase type-II.0

Citation

Dessen P

PAFAH2 (platelet activating factor acetylhydrolase 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71629/pafah2