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Pex7
Gene Detail
 Symbol
Name
ID
Pex7
peroxisomal biogenesis factor 7
MGI:1321392
Synonyms peroxisome biogenesis factor 7
Feature Type protein coding gene
Genetic Map
Chromosome 10
9.16 cM, cytoband A3
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr10:19859929-19907689 bp, - strand
From VEGA annotation of GRCm38

  47761 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:242  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Pex7

Human
homologs
Human Homolog PEX7, peroxisomal biogenesis factor 7
NCBI Gene ID 5191
neXtProt AC  NX_O00628
Human Synonyms  PBD9B, PTS2R, RCDP1, RD
Human Chr (Location)  6q23.3; chr6:136822220-136913934 (+)  GRCh38
Disease Associations  (2) Diseases Associated with Human PEX7
Alleles
and
phenotypes
All alleles(10) : Targeted(4) Gene trapped(6)
 
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.
 
Human Diseases Modeled Using Mouse Pex7 (1)    Alleles Annotated to Human Diseases(2)   
Gene Ontology
(GO)
classifications
All GO classifications: (20 annotations)
Process endochondral ossification, ether lipid biosynthetic process, ...
Component cell, cytoplasm, ...
Function enzyme binding, peroxisome matrix targeting signal-2 binding, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (1 records)
Data Summary: Results (36)    Tissues (2)   
Theiler Stages: 2, 3
Assay TypeResults
RT-PCR 36
cDNA source data(41)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(43) cDNA(42) Primer pair(1)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000031072 (Evidence)
Ensembl Gene ModelENSMUSG00000020003 (Evidence)
Entrez Gene18634 (Evidence)
UniGene338363
DFCITC1581309, TC1623273
DoTSDT.101216126, DT.487683
NIA Mouse Gene IndexU031586
Consensus CDS ProjectCCDS23720.1, CCDS48510.1
International Mouse Knockout Project StatusPex7
Sequences
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 sequences
All sequences(36) RefSeq(4) UniProt(3)
Polymorphisms SNPs within 2kb(300 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR020472 G-protein beta WD-40 repeat
InterPro IPR001680 WD40 repeat
InterPro IPR019775 WD40 repeat, conserved site
InterPro IPR017986 WD40-repeat-containing domain
InterPro IPR015943 WD40/YVTN repeat-like-containing domain
Protein Ontology PR:000012568 peroxisomal targeting signal 2 receptor
References (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:174767 Tang F, et al., Deterministic and stochastic allele specific gene expression in single mouse blastomeres. PLoS One. 2011;6(6):e21208
All references(33)

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
04/08/2014
MGI 5.17
The Jackson Laboratory