Homo sapiens Gene: PEX2
Summary
InnateDB Gene IDBG-26070.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PEX2
Gene Name peroxisomal biogenesis factor 2
Synonyms PAF1; PBD5A; PBD5B; PMP3; PMP35; PXMP3; RNF72; ZWS3
Species Homo sapiens
Ensembl Gene ENSG00000164751
Encoded Proteins
peroxisomal biogenesis factor 2
peroxisomal biogenesis factor 2
peroxisomal biogenesis factor 2
peroxisomal biogenesis factor 2
peroxisomal biogenesis factor 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes an integral peroxisomal membrane protein required for peroxisome biogenesis. The protein is thought to be involved in peroxisomal matrix protein import. Mutations in this gene result in one form of Zellweger syndrome and infantile Refsum disease. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 8:76980258-77001044
Strand Reverse strand
Band q21.13
Transcripts
ENST00000357039 ENSP00000349543
ENST00000520103 ENSP00000428590
ENST00000522527 ENSP00000428638
ENST00000518986 ENSP00000429304
ENST00000519956 ENSP00000429740
ENST00000520203
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.
Experimentally validated
Total 7 [view]
Protein-Protein 7 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0008270 zinc ion binding
Biological Process
GO:0000038 very long-chain fatty acid metabolic process
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0001764 neuron migration
GO:0006635 fatty acid beta-oxidation
GO:0006699 bile acid biosynthetic process
GO:0007031 peroxisome organization
GO:0007399 nervous system development
GO:0016558 protein import into peroxisome matrix
GO:0031648 protein destabilization
GO:0042632 cholesterol homeostasis
GO:0045540 regulation of cholesterol biosynthetic process
GO:0048147 negative regulation of fibroblast proliferation
GO:0050680 negative regulation of epithelial cell proliferation
Cellular Component
GO:0005777 peroxisome
GO:0005778 peroxisomal membrane
GO:0005779 integral component of peroxisomal membrane
GO:0016020 membrane
GO:0016593 Cdc73/Paf1 complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
KEGG
Peroxisome pathway
INOH
PID NCI
Cross-References
SwissProt P28328
TrEMBL E5RIW9
UniProt Splice Variant
Entrez Gene 5828
UniGene Hs.437966 Hs.703022
RefSeq NM_001079867 NM_000318 NM_001172086 NM_001172087
HUGO HGNC:9717
OMIM 170993
CCDS CCDS6221
HPRD 01367
IMGT
EMBL AC090810 AF133826 BC000661 BC005375 BC093043 M85038 M86852
GenPept AAA60141 AAC12785 AAF97687 AAH05375 AAH93043
RNA Seq Atlas 5828