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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 western clawed frog; 1 zebrafish

HCOP human homology predictions: PEX7
Gene Tree: Pex7

Human
homologs
PEX7, peroxisomal biogenesis factor 7
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 5191
neXtProt AC: NX_O00628

Human Synonyms: PBD9B, PTS2R, RCDP1, RD

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

Disease Associations: (3) Diseases Associated with Human PEX7

Mutations,
alleles, and
phenotypes
All mutations/alleles(10) : Gene trapped(6) Targeted(4)
Incidental mutations (data from Mutagenetix , APF )
 
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 in Mice Using Pex7 (1)    Mutations Annotated to Human Diseases (2)   
Interactions
Pex7 interacts with 153 markers (Mir7-2, Mir7b, Mir19b-1, ...)
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)    Tissue x Stage Matrix (view)
Assay TypeResults
RT-PCR 36
cDNA source data(41)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase pex7    NEW 
Molecular
reagents
All nucleic(43) cDNA(42) Primer pair(1)
Microarray probesets(4)
Other database
links
VEGA Gene Model OTTMUSG00000031072 (Evidence)
Ensembl Gene Model ENSMUSG00000020003 (Evidence)
Entrez Gene 18634 (Evidence)
UniGene 338363
DFCI TC1623273, TC1581309
DoTS DT.101216126, DT.487683
NIA Mouse Gene Index U031586
Consensus CDS Project CCDS23720.1, CCDS48510.1
International Mouse Phenotyping Consortium Status Pex7
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:212825 da Silva TF, et al., Peripheral nervous system plasmalogens regulate Schwann cell differentiation and myelination. J Clin Invest. 2014 Jun 2;124(6):2560-70
All references(34)
Disease annotation references (2)

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
07/21/2015
MGI 5.22
The Jackson Laboratory