Peroxisomal biogenesis factor 2

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

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
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 5,560,188 bp[2] End 5,576,239 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • GO:0001948 protein binding • metal ion binding • GO:1904264, GO:1904822, GO:0090622, GO:0090302 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 from RNA polymerase II promoter • 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: 5.56 – 5.58 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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. 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.
• 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. doi:10.1038/350077a0. PMID 1750930.
• 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.
• 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. 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. 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. doi:10.1038/nature04209. PMID 16189514.
• 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