Human Gene PEX2 (uc022awf.1) Description and Page Index
Description: Homo sapiens peroxisomal biogenesis factor 2 (PEX2), transcript variant 4, mRNA. RefSeq Summary (NM_001172087): 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]. Transcript (Including UTRs) Position: hg19 chr8:77,892,494-77,913,280 Size: 20,787 Total Exon Count: 3 Strand: - Coding Region Position: hg19 chr8:77,895,497-77,896,414 Size: 918 Coding Exon Count: 1
ID:PEX2_HUMAN DESCRIPTION: RecName: Full=Peroxisome biogenesis factor 2; AltName: Full=35 kDa peroxisomal membrane protein; AltName: Full=Peroxin-2; AltName: Full=Peroxisomal membrane protein 3; AltName: Full=Peroxisome assembly factor 1; Short=PAF-1; AltName: Full=RING finger protein 72; FUNCTION: Somewhat implicated in the biogenesis of peroxisomes. SUBCELLULAR LOCATION: Peroxisome membrane; Multi-pass membrane protein. DISEASE: Defects in PEX2 are the cause of peroxisome biogenesis disorder complementation group 5 (PBD-CG5) [MIM:170993]; also known as PBD-CGF. PBD refers to a group of peroxisomal disorders arising from a failure of protein import into the peroxisomal membrane or matrix. The PBD group is comprised of four disorders: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum. The PBD group is genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. DISEASE: Defects in PEX2 are a cause of Zellweger syndrome (ZWS) [MIM:214100]. ZWS is a fatal peroxisome biogenesis disorder characterized by dysmorphic facial features, hepatomegaly, ocular abnormalities, renal cysts, hearing impairment, profound psychomotor retardation, severe hypotonia and neonatal seizures. Death occurs within the first year of life. DISEASE: Defects in PEX2 are a cause of infantile Refsum disease (IRD) [MIM:266510]. IRD is a mild peroxisome biogenesis disorder (PBD). Clinical features include early onset, mental retardation, minor facial dysmorphism, retinopathy, sensorineural hearing deficit, hepatomegaly, osteoporosis, failure to thrive, and hypocholesterolemia. The biochemical abnormalities include accumulation of phytanic acid, very long chain fatty acids (VLCFA), di- and trihydroxycholestanoic acid and pipecolic acid. SIMILARITY: Belongs to the pex2/pex10/pex12 family. SIMILARITY: Contains 1 RING-type zinc finger. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PXMP3";
Genetic Association Studies of Complex Diseases and Disorders
Body Height Caroline S Fox et al. BMC medical genetics 2007, Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project., BMC medical genetics.
Adiposity traits are associated with SNPs on the Affymetrix 100K SNP GeneChip. Replication of these initial findings is necessary. These data will serve as a resource for replication as more genes become identified with BMI and WC.
Body Height Daniel F Gudbjartsson et al. Nature genetics 2008, Many sequence variants affecting diversity of adult human height., Nature genetics.
Death, Sudden, Cardiac Bradley E Aouizerat et al. BMC cardiovascular disorders 2012, GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease., BMC cardiovascular disorders.
We demonstrate 11 gene associations for sudden cardiac arrest due to ventricular tachycardia/ventricular fibrillation in patients with coronary artery disease. Validation studies in independent cohorts and functional studies are required to confirm these associations.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P28328
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0000038 very long-chain fatty acid metabolic process GO:0000122 negative regulation of transcription from RNA polymerase II promoter GO:0006625 protein targeting to peroxisome GO:0006635 fatty acid beta-oxidation GO:0007031 peroxisome organization GO:0016558 protein import into peroxisome matrix GO:0016567 protein ubiquitination GO:0031648 protein destabilization GO:0048147 negative regulation of fibroblast proliferation GO:0050680 negative regulation of epithelial cell proliferation
R-HSA-8953917 PEX2:PEX10:PEX12 binds PEX5S,L (in PEX5S:PEX13:PEX14) and Ub:UBE2D1,2,3 R-HSA-9033516 Ub:PEX5L (in PEX2:PEX10:PEX12:Ub:PEX5L:PEX7:PEX13:PEX14) binds PEX1:PEX6:PEX26 and ZFAND6 R-HSA-9033485 PEX2:PEX10:PEX12 monoubiquitinates PEX5L at cysteine-11 R-HSA-9033527 PEX2:PEX10:PEX12 binds PEX5L (in PEX5L:PEX7:PEX13:PEX14:PEX2:PEX10:PEX12) and Ub:UBE2D1,2,3 R-HSA-9033533 Ub:PEX5S,L (in PEX2:PEX10:PEX12:Ub:PEX5S:PEX13:PEX14) binds PEX1:PEX6:PEX26 and ZFAND6 R-HSA-8953946 PEX2:PEX10:PEX12 monoubiquitinates PEX5S,L at cysteine-11 R-HSA-9033236 PEX5S,L:Cargo binds PEX13:PEX14 of PEX13:PEX14:PEX2:PEX10:PEX12 (Docking and Translocation Complex) R-HSA-9033238 PEX5L:PEX7:Cargo binds PEX13:PEX14 of PEX13:PEX14:PEX2:PEX10:PEX12 (Docking and Translocation Complex) R-HSA-8866654 E3 ubiquitin ligases ubiquitinate target proteins R-HSA-9033241 Peroxisomal protein import R-HSA-8852135 Protein ubiquitination R-HSA-392499 Metabolism of proteins R-HSA-597592 Post-translational protein modification