Peroxisomal biogenesis factor 2

Peroxisomal biogenesis factor 2 is a protein that in humans is encoded by the PEX2 gene.^[5][6]

AliasesPEX2, PAF1, PBD5A, PBD5B, PMP3, PMP35, PXMP3, RNF72, ZWS3, peroxisomal biogenesis factor 2

External IDsOMIM: 170993; MGI: 107486; HomoloGene: 269; GeneCards: PEX2; OMA:PEX2 - orthologs

Chr.Chromosome 8 (human)^[1]

End77,001,044 bp^[1]

Quick facts PEX2, Identifiers ...

PEX2
Identifiers
Aliases	PEX2, PAF1, PBD5A, PBD5B, PMP3, PMP35, PXMP3, RNF72, ZWS3, peroxisomal biogenesis factor 2
External IDs	OMIM: 170993; MGI: 107486; HomoloGene: 269; GeneCards: PEX2; OMA:PEX2 - orthologs
Gene location (Human) Chr. Chromosome 8 (human)[1] Band 8q21.13 Start 76,980,258 bp[1] End 77,001,044 bp[1]
Gene location (Mouse) Chr. Chromosome 3 (mouse)[2] Band 3 A1|3 1.96 cM Start 5,625,248 bp[2] End 5,641,299 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in seminal vesicula ventricular zone olfactory zone of nasal mucosa islet of Langerhans rectum monocyte epithelium of colon right adrenal cortex gallbladder body of pancreas Top expressed in proximal tubule right kidney medullary collecting duct seminal vesicula intercostal muscle epithelium of lens medial ganglionic eminence vestibular sensory epithelium atrioventricular valve parotid gland More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding metal ion binding ubiquitin protein ligase activity Cellular component Cdc73/Paf1 complex peroxisome integral component of peroxisomal membrane integral component of membrane membrane peroxisomal membrane Biological process negative regulation of fibroblast proliferation protein import into peroxisome matrix fatty acid beta-oxidation protein destabilization very long-chain fatty acid metabolic process negative regulation of transcription by RNA polymerase II peroxisome organization negative regulation of epithelial cell proliferation protein ubiquitination protein targeting to peroxisome Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5828 19302 Ensembl ENSG00000164751 ENSMUSG00000040374 UniProt P28328 P55098 RefSeq (mRNA) NM_001172087 NM_000318 NM_001079867 NM_001172086 NM_001163301 NM_001163302 NM_001163304 NM_001163305 NM_001163306 NM_001267714 NM_001267715 NM_008994 RefSeq (protein) NP_000309 NP_001073336 NP_001165557 NP_001165558 NP_001156773 NP_001156774 NP_001156777 NP_001156778 NP_001254643 NP_001254644 NP_033020 Location (UCSC) Chr 8: 76.98 – 77 Mb Chr 3: 5.63 – 5.64 Mb PubMed search [3] [4]
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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.^[6]