PAFAH1B2

Gene Summary

Gene:PAFAH1B2; platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 (30kDa)
Aliases: HEL-S-303
Location:11q23
Summary:Platelet-activating factor acetylhydrolase (PAFAH) inactivates platelet-activating factor (PAF) into acetate and LYSO-PAF. This gene encodes the beta subunit of PAFAH, the other subunits are alpha and gamma. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jan 2014]
Databases:OMIM, VEGA, HGNC, Ensembl, GeneCard, Gene
Protein:platelet-activating factor acetylhydrolase IB subunit beta
HPRD
Source:NCBIAccessed: 27 August, 2015

Ontology:

What does this gene/protein do?
Show (13)
Pathways:What pathways are this gene/protein implicaed in?
Show (1)

Cancer Overview

Research Indicators

Publications Per Year (1990-2015)
Graph generated 27 August 2015 using data from PubMed using criteria.

Literature Analysis

Mouse over the terms for more detail; many indicate links which you can click for dedicated pages about the topic.

  • Genetic Recombination
  • retinoic acid binding protein II, cellular
  • Chromosome 14
  • Fibroblast Growth Factor 8
  • Recurrence
  • Amino Acid Sequence
  • AKT1
  • Neuroblastoma
  • Microtubule-Associated Proteins
  • Young Adult
  • Adolescents
  • Chromosome 8
  • CGH
  • Cell Cycle Checkpoints
  • Burkitt Lymphoma
  • Cell Line
  • Neoplasm Grading
  • Mitogen-Activated Protein Kinases
  • Protein Interaction Domains and Motifs
  • Prostate Cancer
  • Chromosome 11
  • Sequence Deletion
  • Reproducibility of Results
  • Oncogene Fusion
  • ESD
  • PAFAH1B2
  • Gene Expression
  • Cell Proliferation
  • Single Nucleotide Polymorphism
  • Cancer Gene Expression Regulation
  • myc Genes
  • Cyclin D1
  • Translocation
  • Childhood Cancer
  • Loss of Heterozygosity
  • B-Lymphocytes
  • Haploinsufficiency
  • Signal Transduction
  • Peptides
Tag cloud generated 27 August, 2015 using data from PubMed, MeSH and CancerIndex

Specific Cancers (3)

Data table showing topics related to specific cancers and associated disorders. Scope includes mutations and abnormal protein expression.

Note: list is not exhaustive. Number of papers are based on searches of PubMed (click on topic title for arbitrary criteria used).

Latest Publications: PAFAH1B2 (cancer-related)

Salaverria I, Martin-Guerrero I, Wagener R, et al.
A recurrent 11q aberration pattern characterizes a subset of MYC-negative high-grade B-cell lymphomas resembling Burkitt lymphoma.
Blood. 2014; 123(8):1187-98 [PubMed] Free Access to Full Article Related Publications
The genetic hallmark of Burkitt lymphoma (BL) is the t(8;14)(q24;q32) and its variants leading to activation of the MYC oncogene. It is a matter of debate whether true BL without MYC translocation exists. Here, we identified 59 lymphomas concordantly called BL by 2 gene expression classifiers among 753 B-cell lymphomas. Only 2 (3%) of these 59 molecular BL lacked a MYC translocation, which both shared a peculiar pattern of chromosome 11q aberration characterized by interstitial gains including 11q23.2-q23.3 and telomeric losses of 11q24.1-qter. We extended our analysis to 17 MYC-negative high-grade B-cell lymphomas with a similar 11q aberration and showed this aberration to be recurrently associated with morphologic and clinical features of BL. The minimal region of gain was defined by high-level amplifications in 11q23.3 and associated with overexpression of genes including PAFAH1B2 on a transcriptional and protein level. The recurrent region of loss contained a focal homozygous deletion in 11q24.2-q24.3 including the ETS1 gene, which was shown to be mutated in 4 of 16 investigated cases. These findings indicate the existence of a molecularly distinct subset of B-cell lymphomas reminiscent of BL, which is characterized by deregulation of genes in 11q.

Li T, Luo W, He D, et al.
A short peptide derived from the gN helix domain of FGF8b suppresses the growth of human prostate cancer cells.
Cancer Lett. 2013; 339(2):226-36 [PubMed] Related Publications
Previous studies have demonstrated that fibroblast growth factor 8b (FGF8b) is up-regulated in a large proportion of prostate cancer patients and that it plays a key role in prostate carcinogenesis. In this study, we designed and synthesized a gN helix domain derived short peptide (termed 8b-13) based on the analysis of the FGF8b-FGFR structure. The synthetic peptides inhibited the proliferation of prostate cancer cell lines, including PC-3 and DU-145 cells. Further investigations indicated that 8b-13 arrested the cell cycle at the G0/G1 phase, reduced the activation of the Erk1/2, P38, and Akt cascades, and down-regulated the expression of G1/S-specific cyclinD1. The suppression of DNA synthesis and the G1 to S phase transition due to the expression of proteins related to proliferation and cell cycle progression may contribute to the inhibitory effect of 8b-13 peptides on cellular proliferation. Our results not only suggest that 8b-13 exerts an antitumor effect in prostate cancer but also confirm the essential role of the gN helix domain in mediating the activity of FGF8b.

Santo EE, Ebus ME, Koster J, et al.
Oncogenic activation of FOXR1 by 11q23 intrachromosomal deletion-fusions in neuroblastoma.
Oncogene. 2012; 31(12):1571-81 [PubMed] Related Publications
Neuroblastoma tumors frequently show loss of heterozygosity of chromosome 11q with a shortest region of overlap in the 11q23 region. These deletions are thought to cause inactivation of tumor suppressor genes leading to haploinsufficiency. Alternatively, micro-deletions could lead to gene fusion products that are tumor driving. To identify such events we analyzed a series of neuroblastomas by comparative genomic hybridization and single-nucleotide polymorphism arrays and integrated these data with Affymetrix mRNA profiling data with the bioinformatic tool R2 (http://r2.amc.nl). We identified three neuroblastoma samples with small interstitial deletions at 11q23, upstream of the forkhead-box R1 transcription factor (FOXR1). Genes at the proximal side of the deletion were fused to FOXR1, resulting in fusion transcripts of MLL-FOXR1 and PAFAH1B2-FOXR1. FOXR1 expression has only been detected in early embryogenesis. Affymetrix microarray analysis showed high FOXR1 mRNA expression exclusively in the neuroblastomas with micro-deletions and rare cases of other tumor types, including osteosarcoma cell line HOS. RNAi silencing of FOXR1 strongly inhibited proliferation of HOS cells and triggered apoptosis. Expression profiling of these cells and reporter assays suggested that FOXR1 is a negative regulator of fork-head box factor-mediated transcription. The neural crest stem cell line JoMa1 proliferates in culture conditional to activity of a MYC-ER transgene. Over-expression of the wild-type FOXR1 could functionally replace MYC and drive proliferation of JoMa1. We conclude that FOXR1 is recurrently activated in neuroblastoma by intrachromosomal deletion/fusion events, resulting in overexpression of fusion transcripts. Forkhead-box transcription factors have not been previously implicated in neuroblastoma pathogenesis. Furthermore, this is the first identification of intrachromosomal fusion genes in neuroblastoma.

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Cite this page: Cotterill SJ. PAFAH1B2, Cancer Genetics Web: http://www.cancer-genetics.org/PAFAH1B2.htm Accessed:

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This page in Cancer Genetics Web by Simon Cotterill is licensed under a Creative Commons Attribution-ShareAlike 4.0 International License.
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