Pex2
Gene Detail

Symbol Name ID

Pex2 peroxisomal biogenesis factor 2 MGI:107486

Synonyms

D3Ertd138e, PMP35, Pxmp3, Zellweger syndrome homolog

Feature Type

protein coding gene

Genetic Map

Chromosome 3

1.96 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)

Sequence Map

Chr3:5560188-5576239 bp, - strand From NCBI annotation of GRCm38   16052 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:269  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: peroxisome assembly factor-1
Gene Tree: Pex2

Human homologs

Human Homolog		PEX2, peroxisomal biogenesis factor 2
NCBI Gene ID		5828
neXtProt AC		NX_P28328
Human Synonyms		PAF1, PBD5A, PBD5B, PMP3, PMP35, PXMP3, RNF72, ZWS3
Human Chr (Location)		8q21.1; chr8:77892494-77913280 (-)  GRCh37.p10
Disease Associations		(2) Diseases Associated with Human PEX2

Alleles and phenotypes

All alleles(1) : Targeted(1)
 

Mice homozygous for disruptions in this gene die sometime before weaning. Various abnormalities are seen in the central nervous system depending on the genetic background.

 
Human Diseases Modeled Using Mouse Pex2 (1)    Alleles Annotated to Human Diseases(1)    Phenotype Images(4)

Gene Ontology (GO) classifications

All GO classifications: (23 annotations)

Process	bile acid biosynthetic process, cholesterol homeostasis, ...
Component	Cdc73/Paf1 complex, integral to membrane, ...
Function	metal ion binding, zinc ion binding

External Resources: FuncBase

Expression

Literature Summary: (6 records)
Data Summary: Results (39)    Tissues (35)    Images (6)
Theiler Stages: 16, 17, 20, 21, 22, 23, 26, 28

Assay Type	Results
RNA in situ	31
Northern blot	8

cDNA source data(9)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(12) Genomic(1) cDNA(10) Primer pair(1)
Microarray probesets(3)

Other database links

Ensembl Gene Model	ENSMUSG00000040374 (Evidence)
Entrez Gene	19302 (Evidence)
DFCI	TC1578084, TC1594035, TC1637237, TC1684370
DoTS	DT.489156, DT.91342253, DT.94215493, DT.94312640, DT.94312648
NIA Mouse Gene Index	U023806
Consensus CDS Project	CCDS17228.1
International Mouse Knockout Project Status	Pex2

Sequences

Length	Strain/Species
genomic	19302	NCBI Gene Model | MGI Sequence Detail	16052	C57BL/6J
transcript	NM_008994	RefSeq | MGI Sequence Detail	2213	C57BL/6
polypeptide	P55098	UniProt | EBI | MGI Sequence Detail	305	Not Applicable

All sequences(51) RefSeq(15) UniProt(3)

Polymorphisms

SNPs(84 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR006845	Pex, N-terminal
InterPro	IPR018957	Zinc finger, C3HC4 RING-type
InterPro	IPR013083	Zinc finger, RING/FYVE/PHD-type
InterPro	IPR001841	Zinc finger, RING-type
InterPro	IPR017907	Zinc finger, RING-type, conserved site
Protein Ontology	PR:000013510	peroxisome assembly factor 1

Graphical View of Protein Domain Structure

References

(Earliest) J:47868 Shimozawa N, et al., A human gene responsible for Zellweger syndrome that affects peroxisome assembly. Science. 1992 Feb 28;255(5048):1132-4
(Latest) J:185169 Kovacs WJ, et al., Peroxisome deficiency-induced ER stress and SREBP-2 pathway activation in the liver of newborn PEX2 knock-out mice. Biochim Biophys Acta. 2012 Jun;1821(6):895-907
All references(43)

Other accession IDs

MGD-MRK-36054, MGI:1098626