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Pex13 Gene Detail
Summary
  • Symbol
    Pex13
  • Name
    peroxisomal biogenesis factor 13
  • Synonyms
    2610008O20Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1919379
    NCBI Gene: 72129
Location & Maps
more
  • Sequence Map
    Chr11:23646479-23665959 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      19481 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    PEX13, peroxisomal biogenesis factor 13
  • Vertebrate Orthologs
    10
  • Human Ortholog
    PEX13, peroxisomal biogenesis factor 13
    Orthology source: HGNC, HomoloGene
  • Synonyms
    NALD, PBD11A, PBD11B, ZWS
  • Links
    NCBI Gene ID: 5194
    neXtProt AC: NX_Q92968

  • Chr Location
    2p16.1; chr2:61017677-61051990 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 1967
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: PEX13
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Pex13 mouse models; 2 with human PEX13 associations

Human Disease Mouse Models
       Peroxisome Biogenesis Disorder 11a (zellweger); PBD11A   OMIM: 614883 View 2 models
       Peroxisome Biogenesis Disorder 11b; PBD11B   OMIM: 614885
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    42 phenotypes from 2 alleles in 2 genetic backgrounds
    15 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    44
  • Chemically induced (other)
    1
  • Gene trapped
    39
  • Targeted
    4
  • Genomic Mutations
    1 involving Pex13
  • Incidental Mutations
Targeted disruption of this gene results in intrauterine growth retardation, hypotonia, aphagia, abnormal lamination of the cerebral cortex associated with a neuronal migration defect, liver steatosis, delayed differentiation of renal glomeruli, impairedperoxisome metabolism, and neonatal death.
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
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000005277 VEGA Gene Model | MGI Sequence Detail 19481 C57BL/6J ±  kb
transcript OTTMUST00000011762 VEGA | MGI Sequence Detail 4146 Not Applicable  
polypeptide OTTMUSP00000005454 VEGA | MGI Sequence Detail 405 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    23 from dbSNP Build 137
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 14
    cDNA 14

    Microarray probesets 6
References
more
  • Summaries
    All 46
    Developmental Gene Expression 3
    Diseases 3
    Gene Ontology 11
    Phenotypes 15
  • Earliest
    J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
  • Latest
    J:224930 Cheerathodi M, et al., Quantitative comparison of CrkL-SH3 binding proteins from embryonic murine brain and liver: Implications for developmental signaling and the quantification of protein species variants in bottom-up proteomics. J Proteomics. 2015 Jul 1;125:104-11

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory