About   Help   FAQ
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
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr10:19735836-19783420 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 10, 9.16 cM, cytoband A3
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1535 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1321392
 protein coding gene Chr10:19729646-19783435 (-)
129S1/SvImJ MGP_129S1SvImJ_G0017050
 protein coding gene Chr10:17586494-17636000 (-)
A/J MGP_AJ_G0017028
 protein coding gene Chr10:16916279-16963991 (-)
AKR/J MGP_AKRJ_G0016992
 protein coding gene Chr10:17189715-17237528 (-)
BALB/cJ MGP_BALBcJ_G0016986
 protein coding gene Chr10:16967853-17016432 (-)
C3H/HeJ MGP_C3HHeJ_G0016811
 protein coding gene Chr10:17521883-17571036 (-)
C57BL/6NJ MGP_C57BL6NJ_G0017448
 protein coding gene Chr10:18014130-18063946 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0015153
 protein coding gene Chr10:15918265-15968971 (-)
CAST/EiJ MGP_CASTEiJ_G0016393
 protein coding gene Chr10:17401998-17452116 (-)
CBA/J MGP_CBAJ_G0016783
 protein coding gene Chr10:18838045-18887975 (-)
DBA/2J MGP_DBA2J_G0016891
 protein coding gene Chr10:16796082-16843574 (-)
FVB/NJ MGP_FVBNJ_G0016886
 protein coding gene Chr10:16554188-16605114 (-)
LP/J MGP_LPJ_G0016966
 protein coding gene Chr10:17386493-17435702 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0016916
 protein coding gene Chr10:19092012-19142416 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0017486
 protein coding gene Chr10:17198576-17246994 (-)
PWK/PhJ MGP_PWKPhJ_G0016178
 protein coding gene Chr10:16667999-16715396 (-)
SPRET/EiJ MGP_SPRETEiJ_G0015961
 protein coding gene Chr10:17348549-17397893 (-)
WSB/EiJ MGP_WSBEiJ_G0016455
 protein coding gene Chr10:17283738-17332032 (-)



Homology
more
  • Human Ortholog
    PEX7, peroxisomal biogenesis factor 7
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PEX7, peroxisomal biogenesis factor 7
  • Synonyms
    PBD9B, PTS2R, RCDP1, RD
  • Links
    NCBI Gene ID: 5191
    neXtProt AC: NX_O00628
    UniProt: O00628

  • Chr Location
    6q23.3; chr6:136822564-136913934 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Pex7 mouse models; 2 with human PEX7 associations

Human Disease Mouse Models
      
IDs
 View 2 models
      
IDs
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
less
  • Phenotype Summary
    41 phenotypes from 2 alleles in 2 genetic backgrounds
    20 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.
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
less
  • All GO Annotations
    25
  • GO References
    7
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
non-membrane-bounded 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
    742
  • Tissues
    2
  • cDNA Data
    42
  • Literature Summary
    1
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 18634 NCBI Gene Model | MGI Sequence Detail 47585 C57BL/6J ±  kb
    transcript NM_008822 RefSeq | MGI Sequence Detail 1894 C57BL/6  
    polypeptide P97865 UniProt | EBI | MGI Sequence Detail 318 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 44
      cDNA 43
      Primer pair 1

      Microarray probesets 4
    References
    more
    • Summaries
      All 46
      Developmental Gene Expression 1
      Diseases 2
      Gene Ontology 7
      Phenotypes 20
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:327348 Fallatah W, et al., A Pex7 Deficient Mouse Series Correlates Biochemical and Neurobehavioral Markers to Genotype Severity-Implications for the Disease Spectrum of Rhizomelic Chondrodysplasia Punctata Type 1. Front Cell Dev Biol. 2022;10:886316
    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)
    Citing These Resources
    Funding Information
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    10/29/2024
    MGI 6.24     		The Jackson Laboratory