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Pafah1b2 Gene Detail
Summary
  • Symbol
    Pafah1b2
  • Name
    platelet-activating factor acetylhydrolase, isoform 1b, subunit 2
  • Synonyms
    mus[b], PAF-AH 30, Pafahb
  • Feature Type
    protein coding gene
  • IDs
    MGI:108415
    NCBI Gene: 18475
  • Gene Overview
    MyGene.info: PAFAH1B2
Location & Maps
more
  • Sequence Map
    Chr9:45965311-45984871 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      19561 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 9, 25.36 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    PAFAH1B2, platelet activating factor acetylhydrolase 1b catalytic subunit 2
  • Vertebrate Orthologs
    10
  • Human Ortholog
    PAFAH1B2, platelet activating factor acetylhydrolase 1b catalytic subunit 2
    Orthology source: HGNC, HomoloGene
  • Synonyms
    HEL-S-303
  • Links
    NCBI Gene ID: 5049
    neXtProt AC: NX_P68402

  • Chr Location
    11q23; chr11:117144284-117178173 (+)  GRCh38.p2

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    9 phenotypes from 2 alleles in 2 genetic backgrounds
    15 phenotypes from multigenic genotypes
    2 images
    14 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Male homozygous null mice exhibit a significant reduction in testis size. In one allele, abnormal spermatogenesis and male infertility has been reported.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000003131 Ensembl Gene Model | MGI Sequence Detail 19561 C57BL/6J ±  kb
transcript ENSMUST00000172450 Ensembl | MGI Sequence Detail 4241 Not Applicable  
polypeptide ENSMUSP00000127851 Ensembl | MGI Sequence Detail 229 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    275 from dbSNP Build 142
Protein
Information
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  • UniProt
    2 Sequences
  • Protein Ontology
    PR:000012228 platelet-activating factor acetylhydrolase IB subunit beta
  • EC
  • InterPro Domains
    IPR013830 SGNH hydrolase-type esterase domain
Molecular
Reagents
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  • All nucleic 18
    cDNA 14
    Primer pair 4

    Microarray probesets 9
Other
Accession IDs
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MGD-MRK-37458, MGI:2143116, MGI:2143210
References
more
  • Summaries
    All 50
    Developmental Gene Expression 8
    Gene Ontology 8
    Phenotypes 14
  • Earliest
    J:37333 Albrecht U, et al., Platelet-activating factor acetylhydrolase expression and activity suggest a link between neuronal migration and platelet-activating factor. Dev Biol. 1996 Dec 15;180(2):579-93
  • Latest
    J:192014 Page RM, et al., Loss of PAFAH1B2 reduces amyloid-beta generation by promoting the degradation of amyloid precursor protein C-terminal fragments. J Neurosci. 2012 Dec 12;32(50):18204-14

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/19/2016
MGI 6.04
The Jackson Laboratory