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Pex7 Gene Detail
Summary
  • Symbol
    Pex7
  • Name
    peroxisomal biogenesis factor 7
  • Synonyms
    peroxisome biogenesis factor 7
  • Feature Type
    protein coding gene
  • IDs
    MGI:1321392
    NCBI Gene: 18634
Location & Maps
more
  • Sequence Map
    Chr10:19859929-19907689 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      47761 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 10, 9.16 cM, cytoband A3
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    PEX7, peroxisomal biogenesis factor 7
  • Vertebrate Orthologs
    10
  • Human Ortholog
    PEX7, peroxisomal biogenesis factor 7
    Orthology source: HomoloGene
  • Synonyms
    PBD9B, PTS2R, RCDP1, RD
  • Links
    NCBI Gene ID: 5191
    neXtProt AC: NX_O00628

  • Chr Location
    6q23.3; chr6:136822220-136913934 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 242
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed
  • HCOP
    human homology predictions: PEX7
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Pex7 mouse models; 3 with human PEX7 associations

Human Disease Mouse Models
       Rhizomelic Chondrodysplasia Punctata, Type 1; RCDP1   OMIM: 215100 View 2 models
       Peroxisome Biogenesis Disorder 9b; PBD9B   OMIM: 614879
Refsum Disease, Classic   OMIM: 266500
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    41 phenotypes from 2 alleles in 2 genetic backgrounds
    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.
  • All Mutations and Alleles
    11
  • Chemically induced (other)
    1
  • Gene trapped
    6
  • Targeted
    4
  • Genomic Mutations
    1 involving Pex7
  • Incidental Mutations
Mice homozygous for mutations in this gene, are petite with cataracts and have delayed ossification and fertility defects. Additionally, mice have biochemical defects in plasmalogen biosynthesis.
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 OTTMUSG00000031072 VEGA Gene Model | MGI Sequence Detail 47761 C57BL/6J ±  kb
transcript OTTMUST00000076976 VEGA | MGI Sequence Detail 2070 Not Applicable  
polypeptide OTTMUSP00000040589 VEGA | MGI Sequence Detail 318 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    300 from dbSNP Build 142
Protein
Information
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  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000012568 peroxisomal targeting signal 2 receptor
  • InterPro Domains
    IPR020472 G-protein beta WD-40 repeat
    IPR001680 WD40 repeat
    IPR019775 WD40 repeat, conserved site
    IPR017986 WD40-repeat-containing domain
    IPR015943 WD40/YVTN repeat-like-containing domain
Molecular
Reagents
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  • All nucleic 43
    cDNA 42
    Primer pair 1

    Microarray probesets 4
References
more
  • Summaries
    All 32
    Developmental Gene Expression 1
    Diseases 2
    Gene Ontology 5
    Phenotypes 14
  • Earliest
    J:49521 Braverman N, et al., Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata. Nat Genet. 1997 Apr;15(4):369-76
  • Latest
    J:223677 Rodrigues TA, et al., A PEX7-centered perspective on the peroxisomal targeting signal type 2-mediated protein import pathway. Mol Cell Biol. 2014 Aug;34(15):2917-28

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
08/23/2016
MGI 6.05
The Jackson Laboratory