PAFAH1B2 (platelet activating factor acetylhydrolase 1b catalytic subunit 2)

2008-01-01  

Identity

HGNC
LOCATION
11q23.3
LOCUSID
ALIAS
HEL-S-303
FUSION GENES

Other Information

Locus ID:

NCBI: 5049
MIM: 602508
HGNC: 8575
Ensembl: ENSG00000168092

Variants:

dbSNP: 5049
ClinVar: 5049
TCGA: ENSG00000168092
COSMIC: PAFAH1B2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000168092ENST00000304808J3KNE3
ENSG00000168092ENST00000419197P68402
ENSG00000168092ENST00000527958P68402
ENSG00000168092ENST00000527958V9HW44
ENSG00000168092ENST00000529887P68402
ENSG00000168092ENST00000530272P68402

Expression (GTEx)

0
10
20
30
40
50
60
70

Pathways

PathwaySourceExternal ID
Ether lipid metabolismKEGGko00565
Ether lipid metabolismKEGGhsa00565
Metabolic pathwaysKEGGhsa01100
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Intra-Golgi and retrograde Golgi-to-ER trafficREACTOMER-HSA-6811442
Golgi-to-ER retrograde transportREACTOMER-HSA-8856688
COPI-independent Golgi-to-ER retrograde trafficREACTOMER-HSA-6811436
Neutrophil degranulationREACTOMER-HSA-6798695

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA446108Colorectal NeoplasmsDiseaseVariantAnnotationnot associatedPD
PA448497aspirinChemicalVariantAnnotationnot associatedPD

References

Pubmed IDYearTitleCitations
190193352009Spontaneous preterm birth in African Americans is associated with infection and inflammatory response gene variants.26
196226342009Opposing effects of Ndel1 and alpha1 or alpha2 on cytoplasmic dynein through competitive binding to Lis1.12
259459742015Activity-Based Protein Profiling of Oncogene-Driven Changes in Metabolism Reveals Broad Dysregulation of PAFAH1B2 and 1B3 in Cancer.12
218441892011Intracellular erythrocyte platelet-activating factor acetylhydrolase I inactivates aspirin in blood.9
232387342012Loss of PAFAH1B2 reduces amyloid-β generation by promoting the degradation of amyloid precursor protein C-terminal fragments.8
235089602013Aspirin hydrolysis in plasma is a variable function of butyrylcholinesterase and platelet-activating factor acetylhydrolase 1b2 (PAFAH1b2).7
218660602012Plasma platelet-activating factor-acetyl hydrolase activity and the levels of free forms of biomarker of lipid peroxidation in cerebrospinal fluid of patients with aneurysmal subarachnoid hemorrhage.5
250348942014Associations of platelet-activating factor acetylhydrolase (PAF-AH) gene polymorphisms with circulating PAF-AH levels and risk of coronary heart disease or blood stasis syndrome in the Chinese Han population.5
279109062016Analysis of the Serum Lipid Profile in Polypoidal Choroidal Vasculopathy.3
297581992018PAFAH1B2 is a HIF1a target gene and promotes metastasis in pancreatic cancer.3

Citation

Dessen P

PAFAH1B2 (platelet activating factor acetylhydrolase 1b catalytic subunit 2)

Atlas Genet Cytogenet Oncol Haematol. 2008-01-01

Online version: http://atlasgeneticsoncology.org/gene/49979/pafah1b2