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PEX2 Gene

protein-coding   GIFtS: 61
GCID: GC08M077892

Peroxisomal Biogenesis Factor 2

(Previous names: peroxisomal membrane protein 3 (35kD, Zellweger syndrome),...)
(Previous symbol: PXMP3)
  See PEX2-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)
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Aliases
Peroxisomal Biogenesis Factor 21 2     PBD5B2 5
PXMP31 2 3 5     Peroxin 21
PAF12 3 5     Peroxisomal Membrane Protein 3 (35kD, Zellweger Syndrome)1
PMP352 3 5     Zellweger Syndrome1
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
PBD5A2 5     

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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 emphysema due to aat deficiency.

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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000008.10  NC_018919.2  NT_008183.20  
Regulatory elements:
   Search for regulatory transcription factor binding sites for PEX2
         Other transcription factors

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

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: PEX2_HUMAN, P28328 (See protein sequence)
Recommended Name: Peroxisome biogenesis factor 2  
Size: 305 amino acids; 34843 Da
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: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See PEX2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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  

    PEX2 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for PEX2
    OriGene Custom MassSpec
    OriGene Custom Protein Services for PEX2
    GenScript Custom Purified and Recombinant Proteins Services for PEX2
    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

     
    Search eBioscience for Proteins for PEX2 

     
    antibodies-online proteins for PEX2 (7 products) 

     
    antibodies-online peptides for PEX2

    PEX2 Antibody Products:

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    antibodies-online antibodies for PEX2 (33 products) 

    PEX2 Assay Products:

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    Cloud-Clone Corp. ELISAs for PEX2
    Cloud-Clone Corp. CLIAs for PEX2
    Search eBioscience for ELISAs for PEX2 
    antibodies-online kits for PEX2 (31 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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


    Find genes that share domains with PEX2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

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

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI10837480
    GO:0008270zinc ion binding IEA--
         
    Find genes that share ontologies with PEX2           About GenesLikeMe


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

    Find genes that share phenotypes with PEX2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Pex2tm1Plf for PEX2

       genOway: Develop your customized and physiologically relevant rodent model for PEX2

    miRNA
    Products:
        
    miRTarBase miRNAs that target PEX2:
    hsa-mir-1296-5p (MIRT036116), hsa-mir-1226-3p (MIRT036438), hsa-mir-320a (MIRT044571), hsa-mir-615-3p (MIRT040209), hsa-mir-24-3p (MIRT030422), hsa-mir-26b-5p (MIRT029230)

    Block miRNA regulation of human, mouse, rat PEX2 using miScript Target Protectors
    Selected qRT-PCR 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
    Products:
        
    OriGene RNAi products in human, mouse, rat for PEX2
    Predesigned siRNA for gene silencing in human, mouse, rat PEX2

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for PEX2

    Clone
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    OriGene clones in human, mouse for PEX2 (see all 19)
    OriGene ORF clones in mouse, rat for PEX2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): PEX2 (NM_000318)
    Sino Biological Human cDNA Clone for PEX2
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PEX2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PEX2
    Addgene plasmids for PEX2 

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for PEX2
    Browse ESI BIO Cell Lines and PureStem Progenitors for PEX2 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PEX2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PEX2_HUMAN, P28328: Peroxisome membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    peroxisome5
    cytosol1
    mitochondrion1
    plasma membrane1

    Gene Ontology (GO): 5 cellular component terms:    About this table

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

    Find genes that share ontologies with PEX2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for PEX2 About    
    See pathways by source

    SuperPathContained pathways About
    1Peroxisome
    Peroxisome


    Find genes that share SuperPaths with PEX2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways




    1 Kegg Pathway  (Kegg details for PEX2):
        Peroxisome

        Pathway & Disease-focused RT2 Profiler PCR Array including PEX2: 
              Ubiquitin Ligases in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for PEX2

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

    Selected Interacting proteins for PEX2 (P283281, 2, 3 ENSP000003495434) via UniProtKB, MINT, STRING, and/or I2D (see all 49)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    C14orf1Q9UKR52, 3MINT-63631 I2D: score=5 
    TLE1Q047242, 3MINT-63630 I2D: score=4 
    PEX19P408551, 2, 3, ENSP000003570514EBI-713978,EBI-594747 MINT-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): Selected biological process terms (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--

    Find genes that share ontologies with PEX2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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)



    Find genes that share compounds with PEX2           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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
    Products:
         
    Block miRNA regulation of human, mouse, rat PEX2 using miScript Target Protectors
    Selected qRT-PCR 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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    OriGene RNAi products in human, mouse, rat for PEX2
    Predesigned siRNA for gene silencing in human, mouse, rat PEX2
    Clone
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    OriGene clones in human, mouse for PEX2 (see all 19)
    OriGene ORF clones in mouse, rat for PEX2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): PEX2 (NM_000318)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PEX2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PEX2
    Addgene plasmids for PEX2 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for PEX2
    OriGene qSTAR qPCR primer pairs in human, mouse for PEX2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PEX2
      QuantiTect SYBR Green Assays in human, mouse, rat PEX2
      QuantiFast Probe-based Assays in human, mouse, rat PEX2

    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 

    Selected AceView cDNA sequences (see all 306):

    BM975162 AL519422 CB990774 CB990898 AA194896 CA413102 CR610629 AL599337 
    AL547332 BP336612 AW574591 CR596267 AI636296 BU675121 BM803201 CR591298 
    BG251150 CR626340 BX392378 F01516 BM475001 BX957129 N22737 AI123398 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    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


    PEX2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
    PEX2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PEX2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.437966
        Pathway & Disease-focused RT2 Profiler PCR Array including PEX2: 
              Ubiquitin Ligases in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for PEX2
    OriGene qSTAR qPCR primer pairs in human, mouse for PEX2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PEX2
    QuantiTect SYBR Green Assays in human, mouse, rat PEX2
    QuantiFast Probe-based Assays in human, mouse, rat PEX2
    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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for PEX2 gene from Selected species (see all 18)    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_001163305.21  NP_001156777.11 
     55601885 
    chicken
    (Gallus gallus)
    Aves PEX21 peroxisomal biogenesis factor 2 73.25(n)
    74.34(a)
      420192  NM_001008454.1  NP_001008454.1 
    lizard
    (Anolis carolinensis)
    Reptilia PEX26
    peroxisomal biogenesis factor 2
    70(a)
    1 ↔ 1
    4(26276080-26276994)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia pex21 peroxisomal biogenesis factor 2 67.43(n)
    66.23(a)
      549595  NM_001016841.2  NP_001016841.1 
    zebrafish
    (Danio rerio)
    Actinopterygii pex21 peroxisomal biogenesis factor 2 60.34(n)
    57.97(a)
      556228  XM_678981.5  XP_684073.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta Pex21 Peroxin 2 44.8(n)
    32.81(a)
      38941  NM_139953.4  NP_648210.1 
    worm
    (Caenorhabditis elegans)
    Secernentea prx-26
    Protein PRX-2 (prx-2) mRNA, complete cds
    25(a)
    1 ↔ 1
    IV(11644176-11646190) WBGene00004192
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons TED31 TED3 45.82(n)
    31.8(a)
      844320  NM_106630.3  NP_565222.1 
    rice
    (Oryza sativa)
    Liliopsida Os05g02757001 Os05g0275700 46.79(n)
    33.58(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)
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    Paralogs for PEX2 gene
    1 SIMAP similar gene for PEX2 using alignment to 2 protein entries:     PEX2_HUMAN (see all proteins):
    PXMP3

    Find genes that share paralogs with PEX2           About GenesLikeMe


    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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PEX2 (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

    Site Specific Mutation Identification with 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 170993   
    OMIM disorders: 614866  614867  
    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

  • 13 diseases for PEX2:    
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    peroxisome biogenesis disorder 5b    emphysema due to aat deficiency    zellweger syndrome    peroxisome biogenesis disorder 5a
    infantile refsum disease    zellweger spectrum    peroxisome biogenesis disorders, zellweger syndrome spectrum    neuronal migration disorders
    beta-ketothiolase deficiency    ketothiolase deficiency    refsum disease    peroxisome biogenesis disorder 2b
    hawkinsinuria

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

    Find genes that share disorders with PEX2           About GenesLikeMe

    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)
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    PubMed articles for PEX2 gene, integrated from 10 sources (see all 65):
    (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. (Science 1992)
    2. Ring finger in the peroxisome assembly factor-1. (PubMed id 1426230)1, 2, 9 Patarca R. and Fletcher M.A. (FEBS Lett. 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. (Biochem. Biophys. Res. Commun. 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. (J. Med. Genet. 1999)
    5. GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease. (PubMed id 21658281)1, 4 Aouizerat B.E....Tseng Z.H. (BMC Cardiovasc Disord 2011)
    6. Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. (PubMed id 21102462)1, 4 Elks C.E....Murray A. (Nat. Genet. 2010)
    7. Many sequence variants affecting diversity of adult human height. (PubMed id 18391951)1, 4 Gudbjartsson D.F....Stefansson K. (Nat. Genet. 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. (Genome Res. 2004)
    9. A unified nomenclature for peroxisome biogenesis factors. (PubMed id 8858157)1, 3 Distel B....Veenhuis M. (J. Cell Biol. 1996)
    10. The peroxisomal membrane targeting elements of human peroxin 2 (PEX2). (PubMed id 12751901)1, 9 Biermanns M....GAortner J. (Eur. J. Cell Biol. 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 5828 HGNC: 9717 AceView: PXMP3 Ensembl:ENSG00000164751 euGenes: HUgn5828
    ECgene: PEX2 Kegg: 5828 H-InvDB: PEX2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for PEX2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=PXMP3[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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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