2. Gene
  3. PAFAH2 - platelet activating factor acetylhydrolase 2 Gene

PAFAH2 - platelet activating factor acetylhydrolase 2 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as HSD-PLA2

Gene ID: 5051 | Gene type: protein coding

About PAFAH2

Cytogenetic location: 1p36.11 Genomic coordinates (GRCh38): 1:25,959,767-25,998,063 (from NCBI)

This gene has 7 transcripts (splice variants), 131 orthologues and 1 paralogue. Ubiquitous expression in thyroid (RPKM 8.5), colon (RPKM 7.9) and 25 other tissues.

Summary

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]

PAFAH2 Products(1)

mRNA Protein Name
NM_000437.4 NP_000428.2 platelet-activating factor acetylhydrolase 2, cytoplasmic

PAFAH2 Protein Structure

PAF-AH_p_II

PAF-AH_p_II: Platelet-activating factor acetylhydrolase, isoform II (1 - 381)

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  • 392 a.a.
Protein Preferred Names Protein Names

platelet-activating factor acetylhydrolase 2, cytoplasmic

PAF:lysophospholipid transacetylase

Related Diseases

Diseases Alias
Williams-Beuren Syndrome

Williams Syndrome

WBS

Wms

Deletion 7q11.23

Monosomy 7q11.23

Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb

Fanconi Schlesinger Syndrome

Beuren Syndrome

Elfin Facies Syndrome

Elfin Facies With Hypercalcemia

Hypercalcemia-Supravalvar Aortic Stenosis

Ws
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS09970 PAFAH2 Human Pre-designed siRNA Set A / Unkown

Orthologs Information

Species Symbol Source ID
Bos taurus PAFAH2 VGNC VGNC:32552
Canis familiaris PAFAH2 VGNC VGNC:44241
Rattus norvegicus PAFAH2 RGD RGD:631399
Mus musculus PAFAH2 MGD MGI:2140321
Felis catus PAFAH2 VGNC VGNC:68686
Macaca mulatta PAFAH2 VGNC VGNC:75749