Peroxisomal biogenesis factor 2

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]
Wikidata
View/Edit Human View/Edit Mouse

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

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]

References

1. GRCh38: Ensembl release 89: ENSG00000164751 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000040374 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Shimozawa N, Tsukamoto T, Suzuki Y, Orii T, Shirayoshi Y, Mori T, Fujiki Y (Apr 1992). "A human gene responsible for Zellweger syndrome that affects peroxisome assembly". Science. 255 (5048): 1132–4. Bibcode:1992Sci...255.1132S. doi:10.1126/science.1546315. PMID 1546315.
6. "Entrez Gene: PXMP3 peroxisomal membrane protein 3, 35kDa (Zellweger syndrome)".

Further reading

• Distel B, Erdmann R, Gould SJ, et al. (1996). "A unified nomenclature for peroxisome biogenesis factors". J. Cell Biol. 135 (1): 1–3. doi:10.1083/jcb.135.1.1. PMC 2121017. PMID 8858157.
• Patarca R, Fletcher MA (1992). "Ring finger in the peroxisome assembly factor-1". FEBS Lett. 312 (1): 1–2. doi:10.1016/0014-5793(92)81397-5. PMID 1426230. S2CID 45880970.
• Tsukamoto T, Miura S, Fujiki Y (1991). "Restoration by a 35K membrane protein of peroxisome assembly in a peroxisome-deficient mammalian cell mutant". Nature. 350 (6313): 77–81. Bibcode:1991Natur.350...77T. doi:10.1038/350077a0. PMID 1750930. S2CID 4260994.
• Brul S, Westerveld A, Strijland A, et al. (1988). "Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions. A study using complementation analysis". J. Clin. Invest. 81 (6): 1710–5. doi:10.1172/JCI113510. PMC 442615. PMID 2454948.
• Berteaux-Lecellier V, Picard M, Thompson-Coffe C, et al. (1995). "A nonmammalian homolog of the PAF1 gene (Zellweger syndrome) discovered as a gene involved in caryogamy in the fungus Podospora anserina". Cell. 81 (7): 1043–51. doi:10.1016/S0092-8674(05)80009-1. PMID 7600573.
• Masuno M, Shimozawa N, Suzuki Y, et al. (1994). "Assignment of the human peroxisome assembly factor-1 gene (PXMP3) responsible for Zellweger syndrome to chromosome 8q21.1 by fluorescence in situ hybridization". Genomics. 20 (1): 141–2. doi:10.1006/geno.1994.1144. PMID 8020947.
• Shimozawa N, Suzuki Y, Tomatsu S, et al. (1999). "A novel mutation, R125X in peroxisome assembly factor-1 responsible for Zellweger syndrome". Hum. Mutat. Suppl 1: S134–6. doi:10.1002/humu.1380110145. PMID 9452066. S2CID 38274040.
• Gärtner J, Brosius U, Obie C, et al. (1998). "Restoration of PEX2 peroxisome assembly defects by overexpression of PMP70". Eur. J. Cell Biol. 76 (4): 237–45. doi:10.1016/s0171-9335(98)80001-0. PMID 9765053.
• Shimozawa N, Imamura A, Zhang Z, et al. (1999). "Defective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders". J. Med. Genet. 36 (10): 779–81. doi:10.1136/jmg.36.10.779. PMC 1734244. PMID 10528859.
• Okumoto K, Abe I, Fujiki Y (2000). "Molecular anatomy of the peroxin Pex12p: ring finger domain is essential for Pex12p function and interacts with the peroxisome-targeting signal type 1-receptor Pex5p and a ring peroxin, Pex10p". J. Biol. Chem. 275 (33): 25700–10. doi:10.1074/jbc.M003303200. PMID 10837480.
• Biermanns M, Gärtner J (2000). "Genomic organization and characterization of human PEX2 encoding a 35-kDa peroxisomal membrane protein". Biochem. Biophys. Res. Commun. 273 (3): 985–90. doi:10.1006/bbrc.2000.3039. PMID 10891359.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Biermanns M, von Laar J, Brosius U, Gärtner J (2003). "The peroxisomal membrane targeting elements of human peroxin 2 (PEX2)". Eur. J. Cell Biol. 82 (4): 155–62. doi:10.1078/0171-9335-00310. PMID 12751901.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Steinberg S, Chen L, Wei L, et al. (2005). "The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum". Mol. Genet. Metab. 83 (3): 252–63. doi:10.1016/j.ymgme.2004.08.008. PMID 15542397.
• Stelzl U, Worm U, Lalowski M, et al. (2005). "A human protein-protein interaction network: a resource for annotating the proteome". Cell. 122 (6): 957–68. doi:10.1016/j.cell.2005.08.029. hdl:11858/00-001M-0000-0010-8592-0. PMID 16169070.
• Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.
• Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.

External links

• GeneReviews/NCBI/NIH/UW entry on Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum
• OMIM entries on Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum