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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PEX2 Gene

protein-coding   GIFtS: 60
GCID: GC08M077892

Peroxisomal Biogenesis Factor 2

(Previous names: peroxisomal membrane protein 3 (35kD, Zellweger syndrome),...)
(Previous symbol: PXMP3)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Peroxisomal Biogenesis Factor 21 2     Peroxisomal Membrane Protein 3 (35kD, Zellweger Syndrome)1
PXMP31 2 3 5     Zellweger Syndrome1
PAF12 3 5     PBD5A2
PMP352 3 5     PBD5B2
Peroxisomal Membrane Protein 3, 35kDa1 2     ZWS32
Peroxisome Assembly Factor 12 3     Peroxisome Assembly Factor-12
35 KDa Peroxisomal Membrane Protein2 3     Peroxisome Biogenesis Factor 22
PMP32 3     PAF-13
RNF722 3     Peroxin-23
RING Finger Protein 722 3     Peroxisomal Membrane Protein 33
Peroxin 21     

External Ids:    HGNC: 97171   Entrez Gene: 58282   Ensembl: ENSG000001647517   OMIM: 1709935   UniProtKB: P283283   

Export aliases for PEX2 gene to outside databases

Previous GC identifer: GC08M073378


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for PEX2 Gene:
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)

GeneCards Summary for PEX2 Gene: 
PEX2 (peroxisomal biogenesis factor 2) is a protein-coding gene. Diseases associated with PEX2 include peroxisome biogenesis disorder 5b, and zellweger syndrome. GO annotations related to this gene include protein binding and zinc ion binding.

UniProtKB/Swiss-Prot: PEX2_HUMAN, P28328
Function: Somewhat implicated in the biogenesis of peroxisomes

Gene Wiki entry for PEX2 (PXMP3) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NT_008183.19  NC_018919.2  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for PEX2
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPEX2 promoter sequence
   Search SABiosciences Chromatin IP Primers for PEX2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PEX2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8q21.1   Ensembl cytogenetic band:  8q21.11   HGNC cytogenetic band: 8q21.11

PEX2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PEX2 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M077892:  view genomic region     (about GC identifiers)

Start:
77,892,494 bp from pter      End:
77,913,280 bp from pter
Size:
20,787 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: PEX2_HUMAN, P28328 (See protein sequence)
Recommended Name: Peroxisome biogenesis factor 2  
Size: 305 amino acids; 34843 Da
Subcellular location: Peroxisome membrane; Multi-pass membrane protein
Secondary accessions: Q567S6 Q9BW41

Explore the universe of human proteins at neXtProt for PEX2: NX_P28328

Explore proteomics data for PEX2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P28328

  • PEX2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PEX2 Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_000309.1  NP_001073336.1  NP_001165557.1  NP_001165558.1  

    ENSEMBL proteins: 
     ENSP00000349543   ENSP00000428590   ENSP00000428638   ENSP00000429304   ENSP00000429740  
     ENSP00000400984  

    Human Recombinant Protein Products for PEX2: 
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    Novus Biologicals PEX2 Proteins
    Novus Biologicals PEX2 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PEX2 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005777peroxisome ----
    GO:0005778peroxisomal membrane IDA--
    GO:0005779integral to peroxisomal membrane IMP12751901
    GO:0016020membrane ----
    GO:0016593Cdc73/Paf1 complex IDA18987311

    PEX2 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    RNF: RING-type (C3HC4) zinc fingers

    5 InterPro protein domains:
     IPR001841 Znf_RING
     IPR013083 Znf_RING/FYVE/PHD
     IPR017907 Znf_RING_CS
     IPR006845 Pex_N
     IPR018957 Znf_C3HC4_RING-type

    Graphical View of Domain Structure for InterPro Entry P28328

    ProtoNet protein and cluster: P28328

    2 Blocks protein domains:
    IPB001841 Zn-finger
    IPB006845 Pex2 / Pex12


    UniProtKB/Swiss-Prot: PEX2_HUMAN, P28328
    Similarity: Belongs to the pex2/pex10/pex12 family
    Similarity: Contains 1 RING-type zinc finger


    PEX2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PEX2_HUMAN, P28328
    Function: Somewhat implicated in the biogenesis of peroxisomes

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI10837480
    GO:0008270zinc ion binding IEA--
         
    PEX2 for ontologies           About GeneDecksing


    Phenotypes:
         11 MGI mutant phenotypes (inferred from 1 allele(MGI details for Pex2):
     behavior/neurological  craniofacial  embryogenesis  endocrine/exocrine gland  growth/size 
     homeostasis/metabolism  liver/biliary system  mortality/aging  nervous system  renal/urinary system 
     skeleton 

    PEX2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Pex2tm1Plf for PEX2

       inGenious Targeting Laboratory - Custom generated mouse model solutions for PEX2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for PEX2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PEX2 
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    8/17 QIAGEN miScript miRNA Assays for microRNAs that regulate PEX2 (see all 17):
    hsa-miR-607 hsa-miR-885-5p hsa-miR-500a hsa-miR-515-5p hsa-miR-613 hsa-miR-580 hsa-miR-548c-3p hsa-miR-3690
    SwitchGear 3'UTR luciferase reporter plasmidPEX2 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PEX2


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for PEX2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Peroxisome
    Peroxisome

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways




    1         Kegg Pathway  (Kegg details for PEX2):
        Peroxisome


    PEX2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for PEX2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/36 Interacting proteins for PEX2 (P283282, 3 ENSP000003495434) via UniProtKB, MINT, STRING, and/or I2D (see all 36)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    C14orf1Q9UKR52, 3MINT-63631 I2D: score=5 
    TLE1Q047242, 3MINT-63630 I2D: score=4 
    PEX19P408552, 3, ENSP000003570514MINT-7995731 MINT-7995564 MINT-7995717 I2D: score=1 STRING: ENSP00000357051
    CDC73Q6P1J93, ENSP000003564054I2D: score=1 STRING: ENSP00000356405
    CTR9Q6PD623, ENSP000003550134I2D: score=1 STRING: ENSP00000355013
    About this table

    Gene Ontology (GO): 5/13 biological process terms (GO ID links to tree view) (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000038very long-chain fatty acid metabolic process IMP9765053
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IMP18987311
    GO:0001764neuron migration IEA--
    GO:0006635fatty acid beta-oxidation IMP10528859
    GO:0006699bile acid biosynthetic process IEA--

    PEX2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    PEX2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PEX2

    2 Novoseek inferred chemical compound relationships for PEX2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    zinc 30.4 4 7539728 (1), 12751901 (1)
    lipid 0 1 11478384 (1)

    Search CenterWatch for drugs/clinical trials and news about PEX2

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for PEX2 gene (4 alternative transcripts): 
    NM_000318.2  NM_001079867.1  NM_001172086.1  NM_001172087.1  

    Unigene Cluster for PEX2:

    Peroxisomal biogenesis factor 2
    Hs.437966  [show with all ESTs]
    Unigene Representative Sequence: NM_000318
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000357039(uc003yax.3 uc003yay.3) ENST00000520103 ENST00000522527
    ENST00000518986 ENST00000519956 ENST00000520203 ENST00000419564(uc022awe.1 uc022awf.1)

    miRNA
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    8/17 QIAGEN miScript miRNA Assays for microRNAs that regulate PEX2 (see all 17):
    hsa-miR-607 hsa-miR-885-5p hsa-miR-500a hsa-miR-515-5p hsa-miR-613 hsa-miR-580 hsa-miR-548c-3p hsa-miR-3690
    SwitchGear 3'UTR luciferase reporter plasmidPEX2 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AK312997.1 AL832262.1 BC000661.2 BC005375.1 BC093043.1 M85038.1 M86852.1 

    10 DOTS entries:

    DT.447737  DT.92443256  DT.99945322  DT.110784  DT.100816908  DT.40120231  DT.120647761  DT.95276774 
    DT.92324513  DT.99976799 

    24/306 AceView cDNA sequences (see all 306):

    AW013870 AA025802 BX382921 BI829734 N22737 CB990898 BE738703 F01516 
    CR599356 CR596267 BE886785 BM475001 BP336612 CR591298 AI636296 BG251150 
    CA413102 BX957129 AL519422 CR590023 AA194896 F05265 BM975162 AL599337 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for PEX2 (see all 6)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b · 6c · 6d
    SP1:                    -     -                                 
    SP2:                    -     -                                 
    SP3:                                                            
    SP4:              -     -     -     -                           
    SP5:              -     -     -                                 


    ECgene alternative splicing isoforms for PEX2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PEX2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGATTCTAAA
    PEX2 Expression
    About this image


    See PEX2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PEX2

    SOURCE GeneReport for Unigene cluster: Hs.437966
        SABiosciences Expression via Pathway-Focused PCR Array including PEX2: 
              Ubiquitin Ligases in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PEX2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for PEX2 gene from 8/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pex21 , 5 peroxisomal membrane protein 35
    peroxisomal biogenesis factor 21
    86.67(n)1
    88.2(a)1
      3 (1.96 cM)5
    193021  NM_001163301.21  NP_001156773.11 
     55601885 
    chicken
    (Gallus gallus)
    Aves PEX21 peroxisomal biogenesis factor 2 73.27(n)
    74.59(a)
      420192  NM_001008454.1  NP_001008454.1 
    lizard
    (Anolis carolinensis)
    Reptilia PEX26
    Uncharacterized protein
    70(a)
    1 ↔ 1
    4(26276080-26276994)
    zebrafish
    (Danio rerio)
    Actinopterygii pex21 peroxisomal biogenesis factor 2 59.89(n)
    57.93(a)
      556228  XM_678981.4  XP_684073.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta pex21 peroxin 2 45.01(n)
    33.07(a)
      38941  NM_139953.3  NP_648210.1 
    worm
    (Caenorhabditis elegans)
    Secernentea prx-26
    Protein PRX-2
    21(a)
    1 ↔ 1
    IV(11644176-11646190)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons TED31 peroxin-2 45.82(n)
    31.8(a)
      844320  NM_106630.3  NP_565222.1 
    rice
    (Oryza sativa)
    Liliopsida Os05g02757001 hypothetical protein 45.91(n)
    33.21(a)
      4338276  NM_001061610.1  NP_001055075.1 


    ENSEMBL Gene Tree for PEX2 (if available)
    TreeFam Gene Tree for PEX2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PEX2 gene
    1 SIMAP similar gene for PEX2 using alignment to 2 protein entries:     PEX2_HUMAN (see all proteins):
    PXMP3

    PEX2 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for PEX2
    PGOHUM00000239873


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/493 SNPs in PEX2 are shown (see all 493)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0113894
    Peroxisome biogenesis disorder 5B (PBD5B)4--see VAR_0113892 E K mis40--------
    rs617521231,2
    C,Fpathogenic177994839(-) AAGAAC/TGATGC 8 R * stg12Minor allele frequency- T:0.00NA EU 5865
    rs617521191,2
    Cpathogenic177995031(-) AGCCAA/GAGGTG 8 K E mis10--------
    rs617521281,2
    Cuntested177994455(-) CTCTAC/TGTGGA 8 R C mis10--------
    rs617521271,2
    Cuntested177994525(-) TCATGA/GTGTAT 8 * W stg10--------
    rs617521261,2
    Cuntested177994552(-) GTCCA-/GAAGTT 8 S K fra10--------
    rs635453611,2
    Cuntested177994644(+) TTCAC-/ATATGT 8 V R fra10--------
    rs352187061,2
    C,Funtested177994717(+) CCCCTC/TTGAAG 8 Q syn14Minor allele frequency- T:0.00NA WA 4684
    rs617521241,2
    Cuntested177994821(-) TGTTTC/TGAAAC 8 R * stg10--------
    rs617521221,2
    Cuntested177994911(-) AACCT-/GAGAT 
            
    ATCAG
    8 S RY fra10--------

    HapMap Linkage Disequilibrium report for PEX2 (77892494 - 77913280 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for PEX2: --

    Human Gene Mutation Database (HGMD): PEX2

    Locus Specific Mutation Databases (LSDB): PEX2
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing PEX2
    DNA2.0 Custom Variant and Variant Library Synthesis for PEX2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 170993   
    OMIM disorders: 266510  
    UniProtKB/Swiss-Prot: PEX2_HUMAN, P28328
  • Peroxisome biogenesis disorder complementation group 5 (PBD-CG5) [MIM:614866]: A peroxisomal disorder
    arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis
    disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from
    complementation studies. Include disorders are: 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
    (PBD-ZSS). Note=The disease is caused by mutations affecting the gene represented in this entry
  • Peroxisome biogenesis disorder 5A (PBD5A) [MIM:614866]: A fatal peroxisome biogenesis disorder belonging
    to the Zellweger disease spectrum and clinically characterized by severe neurologic dysfunction with profound
    psychomotor retardation, severe hypotonia and neonatal seizures, craniofacial abnormalities, liver dysfunction,
    and biochemically by the absence of peroxisomes. Additional features include cardiovascular and skeletal defects,
    renal cysts, ocular abnormalities, and hearing impairment. Most severely affected individuals with the classic
    form of the disease (classic Zellweger syndrome) die within the first year of life. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • Peroxisome biogenesis disorder 5B (PBD5B) [MIM:614867]: A peroxisome biogenesis disorder that includes
    neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), two milder manifestations of the
    Zellweger disease spectrum. The clinical course of patients with the NALD and IRD presentation is variable and
    may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy and
    vision impairment. Children with the NALD presentation may reach their teens, while patients with the IRD
    presentation may reach adulthood. The clinical conditions are often slowly progressive in particular with respect
    to loss of hearing and vision. The biochemical abnormalities include accumulation of phytanic acid, very long
    chain fatty acids (VLCFA), di- and trihydroxycholestanoic acid and pipecolic acid. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 20/25 diseases for PEX2 (see all 25):    About MalaCards
    peroxisome biogenesis disorder 5b    zellweger syndrome    infantile refsum disease    hawkinsinuria
    argininosuccinic aciduria    peroxisome disorders    peroxisome biogenesis disorders, zellweger syndrome spectrum    beta-ketothiolase deficiency
    ketothiolase deficiency    sialuria    zellweger spectrum    neuronal migration disorders
    neonatal adrenoleukodystrophy    refsum disease    peroxisome biogenesis disorders    rhizomelic chondrodysplasia punctata
    adrenoleukodystrophy    chondrodysplasia    hypotonia    cerebellar ataxia

    3 diseases from the University of Copenhagen DISEASES database for PEX2:
    Zellweger syndrome     Infantile refsum disease     Adrenoleukodystrophy

    PEX2 for disorders           About GeneDecksing

    3 Novoseek inferred disease relationships for PEX2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    zellweger syndrome 95.5 8 9452066 (1), 9765053 (1), 9183994 (1), 10891359 (1) (see all 8)
    peroxisome biogenesis disorders 95.2 5 9765053 (1), 10837480 (1), 10891359 (1), 11330042 (1) (see all 5)
    peroxisomal disorders 72.2 1 9382874 (1)

    Genetic Association Database (GAD): PEX2
    Human Genome Epidemiology (HuGE) Navigator: PEX2 (4 documents)

    Export disorders for PEX2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for PEX2 gene, integrated from 9 sources (see all 64):
    (articles sorted by number of sources associating them with PEX2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A human gene responsible for Zellweger syndrome that affects peroxisome assembly. (PubMed id 1546315)1, 2, 3, 9 Shimozawa N.... Fujiki Y. (1992)
    2. Ring finger in the peroxisome assembly factor-1. (PubMed id 1426230)1, 2, 9 Patarca R. and Fletcher M.A. (1992)
    3. Genomic organization and characterization of human PEX2 encoding a 35-kDa peroxisomal membrane protein. (PubMed id 10891359)1, 2, 9 Biermanns M. and Gaertner J. (2000)
    4. Defective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders. (PubMed id 10528859)1, 2, 9 Shimozawa N.... Kondo N. (1999)
    5. GWAS for discovery and replication of genetic loci as sociated with sudden cardiac arrest in patients with coronary artery disease. (PubMed id 21658281)1, 4 Aouizerat B.E....Tseng Z.H. (2011)
    6. Thirty new loci for age at menarche identified by a m eta-analysis of genome-wide association studies. (PubMed id 21102462)1, 4 Elks C.E....Murray A. (2010)
    7. Many sequence variants affecting diversity of adult human height. (PubMed id 18391951)1, 4 Gudbjartsson D.F....Stefansson K. (2008)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    9. A unified nomenclature for peroxisome biogenesis factors. (PubMed id 8858157)1, 3 Distel B....Veenhuis M. (1996)
    10. The peroxisomal membrane targeting elements of human peroxin 2 (PEX2). (PubMed id 12751901)1, 9 Biermanns M....Gartner J. (2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5828 HGNC: 9717 AceView: PXMP3 Ensembl:ENSG00000164751 euGenes: HUgn5828
    ECgene: PEX2 Kegg: 5828 H-InvDB: PEX2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PEX2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PXMP3

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for PEX2 gene:
    Search GeneIP for patents involving PEX2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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