PAFAH2
Platelet-activating factor acetylhydrolase 2, cytoplasmic
Also known as: HSD-PLA2, PAFA2_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q99487
- Gene
- PAFAH2
- Ensembl
- ENSG00000158006
- Chromosome
- 1
- Canonical length
- 392 aa
- Protein class
- Enzymes, Metabolic proteins, Predicted intracellular proteins
OverviewNCBI Gene
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-phosphorylcholine). However, this lipase exhibits a broader substrate specificity than simply platelet activating factor. Two other isoforms of intracellular platelet-activating factor acetylhydrolase exist, and both are multi-subunit enzymes. Additionally, there is a single-subunit serum isoform of this enzyme. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
392 residues, UniProt reviewed canonical sequence.
>Q99487|PAFAH2
1 MGVNQSVGFP PVTGPHLVGC GDVMEGQNLQ GSFFRLFYPC QKAEETMEQP LWIPRYEYCT
61 GLAEYLQFNK RCGGLLFNLA VGSCRLPVSW NGPFKTKDSG YPLIIFSHGL GAFRTLYSAF
121 CMELASRGFV VAVPEHRDRS AATTYFCKQA PEENQPTNES LQEEWIPFRR VEEGEKEFHV
181 RNPQVHQRVS ECLRVLKILQ EVTAGQTVFN ILPGGLDLMT LKGNIDMSRV AVMGHSFGGA
241 TAILALAKET QFRCAVALDA WMFPLERDFY PKARGPVFFI NTEKFQTMES VNLMKKICAQ
301 HEQSRIITVL GSVHRSQTDF AFVTGNLIGK FFSTETRGSL DPYEGQEVMV RAMLAFLQKH
361 LDLKEDYNQW NNLIEGIGPS LTPGAPHHLS SLLocalizationUniProt · AlphaFold · HPA
Whether an antibody against PAFAH2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Other membrane
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.23
- Highest tissue expression
- 45 nTPM
Expression across tissuesHPA
Tissue
- thymus: 45 nTPM
- pancreas: 30 nTPM
- parathyroid gland: 22 nTPM
- kidney: 18 nTPM
- small intestine: 18 nTPM
- liver: 17 nTPM
Single-cell type
- pdcs: 51 nCPM
- parietal cells: 50 nCPM
- enterocytes: 45 nCPM
- adrenal medulla cells: 43 nCPM
- nk-cells: 37 nCPM
- colonocytes: 33 nCPM
Immune cell
- eosinophil: 60 nTPM
- plasmacytoid DC: 39 nTPM
- basophil: 36 nTPM
- gdT-cell: 24 nTPM
- NK-cell: 17 nTPM
- memory CD8 T-cell: 15 nTPM
Brain region
- white matter: 16 nTPM
- choroid plexus: 14 nTPM
- midbrain: 13 nTPM
- medulla oblongata: 13 nTPM
- thalamus: 13 nTPM
- basal ganglia: 13 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about PAFAH2.
Disease | ImmuneIEDB
Conditions an epitope on PAFAH2 was assayed in.
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.11
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.12
- DepMap mean gene effect
- 0.05
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
- 1-alkyl-2-acetylglycerophosphocholine esterase activity
- phospholipid binding
- platelet-activating factor acetyltransferase activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads PAFAH2 as an antibody target. Whether an autoantibody or antibody against PAFAH2 could matter depends on whether native PAFAH2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
PAFAH2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label PAFAH2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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