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; chr6:137143702-137235072 (+)  GRCh37.p10
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: (18 annotations)

Process	endochondral ossification, ether lipid biosynthetic process, ...
Component	cytoplasm, cytosol, ...
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 Type	Results
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 Model	OTTMUSG00000031072 (Evidence)
Ensembl Gene Model	ENSMUSG00000020003 (Evidence)
Entrez Gene	18634 (Evidence)
UniGene	338363
DFCI	TC1581309, TC1623273
DoTS	DT.101216126, DT.487683
NIA Mouse Gene Index	U031586
Consensus CDS Project	CCDS23720.1, CCDS48510.1
International Mouse Knockout Project Status	Pex7

Sequences

Length	Strain/Species
genomic	OTTMUSG00000031072	VEGA Gene Model | MGI Sequence Detail	47761	C57BL/6J
transcript	OTTMUST00000076976	VEGA | MGI Sequence Detail	2070	Not Applicable
polypeptide	OTTMUSP00000040589	VEGA | MGI Sequence Detail	318	Not Applicable

All sequences(36) RefSeq(4) UniProt(3)

Polymorphisms

SNPs(287 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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)