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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, PAF-AH alpha2, Pafahb
  • Feature Type
    protein coding gene
  • IDs
    MGI:108415
    NCBI Gene: 18475
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr9:45876609-45923988 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 9, 25.36 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1115 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_108415
 protein coding gene Chr9:45874157-45923988 (-)
129S1/SvImJ MGP_129S1SvImJ_G0034746
 protein coding gene Chr9:44572514-44593914 (-)
A/J MGP_AJ_G0034727
 protein coding gene Chr9:43310449-43329984 (-)
AKR/J MGP_AKRJ_G0034654
 protein coding gene Chr9:44195352-44214836 (-)
BALB/cJ MGP_BALBcJ_G0034718
 protein coding gene Chr9:43033931-43053524 (-)
C3H/HeJ MGP_C3HHeJ_G0034429
 protein coding gene Chr9:44671536-44691154 (-)
C57BL/6NJ MGP_C57BL6NJ_G0035239
 protein coding gene Chr9:45847954-45878456 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0032153
 protein coding gene Chr9:42847968-42868108 (-)
CAST/EiJ MGP_CASTEiJ_G0033751
 protein coding gene Chr9:44522950-44575494 (-)
CBA/J MGP_CBAJ_G0034401
 protein coding gene Chr9:47529598-47550945 (-)
DBA/2J MGP_DBA2J_G0034560
 protein coding gene Chr9:43184082-43204026 (-)
FVB/NJ MGP_FVBNJ_G0034501
 protein coding gene Chr9:42451224-42470954 (-)
LP/J MGP_LPJ_G0034641
 protein coding gene Chr9:44889136-44910551 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0034545
 protein coding gene Chr9:49304683-49328177 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0035260
 protein coding gene Chr9:44109079-44128932 (-)
PWK/PhJ MGP_PWKPhJ_G0033456
 protein coding gene Chr9:43094344-43114556 (-)
SPRET/EiJ MGP_SPRETEiJ_G0033292
 protein coding gene Chr9:44431167-44481891 (-)
WSB/EiJ MGP_WSBEiJ_G0033864
 protein coding gene Chr9:44156811-44177544 (-)



Homology
more
  • Human Ortholog
    PAFAH1B2, platelet activating factor acetylhydrolase 1b catalytic subunit 2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PAFAH1B2, platelet activating factor acetylhydrolase 1b catalytic subunit 2
  • Synonyms
    HEL-S-303
  • Links
    NCBI Gene ID: 5049
    neXtProt AC: NX_P68402
    UniProt: P68402

  • Chr Location
    11q23.3; chr11:117144284-117178173 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human PAFAH1B2 associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    9 phenotypes from 2 alleles in 2 genetic backgrounds
    16 phenotypes from multigenic genotypes
    2 images
    16 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
less
  • All GO Annotations
    34
  • GO References
    10
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    944
  • Tissues
    184
  • cDNA Data
    19
  • Literature Summary
    9
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 18475 NCBI Gene Model | MGI Sequence Detail 47380 C57BL/6J ±  kb
    transcript NM_001357239 RefSeq | MGI Sequence Detail 4610 C57BL/6  
    polypeptide Q61206 UniProt | EBI | MGI Sequence Detail 229 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 24
      cDNA 19
      Primer pair 4
      Other 1

      Microarray probesets 9
    Other
    Accession IDs
    less
    MGD-MRK-37458, MGI:2143116, MGI:2143210
    References
    more
    • Summaries
      All 54
      Developmental Gene Expression 9
      Gene Ontology 10
      Phenotypes 16
    • 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 Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory