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

PEX13 Gene

protein-coding   GIFtS: 62
GCID: GC02P061244

peroxisomal biogenesis factor 13

(Previous name: peroxisome biogenesis factor 13 )
 Explore 14 diseases affiliated with
PEX13 via our new
 Human Malady Compendium 
Biological research products
for PEX13
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Peroxisomal Biogenesis Factor 131 2     PBD11B2
Peroxisome Biogenesis Factor 131 2     Peroxin-133
NALD2 5     Peroxisomal Membrane Protein PEX132
ZWS2 5     Peroxin-133
PBD11A2     

External Ids:    HGNC: 88551   Entrez Gene: 51942   Ensembl: ENSG000001629287   OMIM: 6017895   UniProtKB: Q929683   

Export aliases for PEX13 gene to outside databases

Previous GC identifers: GC02P061373 GC02P061202 GC02P061219 GC02P061156 GC02P061098 GC02P060985


(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 PEX13:
This gene encodes a peroxisomal membrane protein that binds the type 1 peroxisomal targeting signal receptor via a SH3
domain located in the cytoplasm. Mutations and deficiencies in peroxisomal protein importing and peroxisome assembly
lead to peroxisomal biogenesis disorders, an example of which is Zellweger syndrome. (provided by RefSeq, Oct 2008)

UniProtKB/Swiss-Prot: PEX13_HUMAN, Q92968
Function: Component of the peroxisomal translocation machinery with PEX14 and PEX17. Functions as a docking factor for
the predominantly cytoplasmic PTS1 receptor (PAS10/PEX5). Involved in the import of PTS1 and PTS2 proteins

Gene Wiki entry for PEX13


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.1  NT_022184.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PEX13 gene promoter:
         LHX3b/Lhx3b   Sp1   ATF-2   E4BP4   Tal-1beta   E47   YY1   HSF2   LHX3a/Lhx3a   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPEX13 promoter sequence
   Search SABiosciences Chromatin IP Primers for PEX13

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PEX13


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

Entrez Gene cytogenetic band: 2p16.1   Ensembl cytogenetic band:  2p16.1   HGNC cytogenetic band: 2p16.1

PEX13 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PEX13 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P061244:  view genomic region     (about GC identifiers)

Start:
61,244,360 bp from pter      End:
61,279,125 bp from pter
Size:
34,766 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: PEX13_HUMAN, Q92968 (See protein sequence)
Recommended Name: Peroxisomal membrane protein PEX13  
Size: 403 amino acids; 44130 Da
Subunit: Interacts with PEX19
Subcellular location: Peroxisome membrane; Single-pass membrane protein
Caution: It is uncertain whether Met-1 or Met-40 is the initiator
Secondary accessions: B2RCS1

Explore the universe of human proteins at neXtProt for PEX13: NX_Q92968

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q92968

  • PEX13 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_002609.1  
    ENSEMBL proteins: 
     ENSP00000405184   ENSP00000384738   ENSP00000295030   ENSP00000405413  

    Human Recombinant Protein Products: 
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    OriGene Protein Over-expression Lysate: PEX13
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    Novus Biologicals PEX13 Proteins
    Novus Biologicals PEX13 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for PEX13

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005777peroxisome IDA11829486
    GO:0005778peroxisomal membrane IDA16449325
    GO:0005779integral to peroxisomal membrane IDA8858165


    PEX13 for ontologies           About GeneDecksing



    PEX13 Antibody Products: 
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    Uscn Antibodies for PEX13
    ThermoFisher Antibodies for PEX13

    Assay Products for PEX13: 
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    Uscn ELISAs and CLIAs for PEX13


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    PEX13 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR001452 SH3_domain
     IPR007223 Peroxin-13_N

    Graphical View of Domain Structure for InterPro Entry Q92968

    ProtoNet protein and cluster: Q92968

    2 Blocks protein families:
    IPB001452 SH3 domain signature
    IPB007223 Peroxin 13


    UniProtKB/Swiss-Prot: PEX13_HUMAN, Q92968
    Similarity: Belongs to the peroxin-13 family
    Similarity: Contains 1 SH3 domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: PEX13_HUMAN, Q92968
    Function: Component of the peroxisomal translocation machinery with PEX14 and PEX17. Functions as a docking factor for
    the predominantly cytoplasmic PTS1 receptor (PAS10/PEX5). Involved in the import of PTS1 and PTS2 proteins

         Genatlas biochemistry entry for PEX13:
    peroxin 13,peroxisome biogenesis factor 13 complementation group H (Japan),encoding the docking factor for the PTS1
    receptor (PEX5),also required for PTS2 import

    miRNA
    Products:
        
    miRTarBase miRNAs that target PEX13:
    hsa-mir-197 (MIRT003820)

    OriGene 3'-UTR Clone: PEX13
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PEX13
    8/51 QIAGEN miScript miRNA Assays for microRNAs that regulate PEX13 (see all 51):
    hsa-miR-607 hsa-miR-4307 hsa-miR-300 hsa-miR-199a-3p hsa-miR-15a hsa-miR-548k hsa-miR-218-1* hsa-miR-503
    SwitchGear 3'UTR luciferase reporter plasmidPEX13 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PEX13 (see all 7)
    OriGene shRNA RFP: PEX13
    OriGene siRNA: PEX13
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PEX13

    Gene Editing
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    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: PEX13 (NM_002618)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PEX13 

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    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PEX13

    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI10704444


    PEX13 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for PEX13:
     Decreased cell number and incr 

    Animal Models:
         Mouse knock-out Pex13tm1.1Crne for PEX13
         11 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Pex13):
     behavior/neurological  cellular  endocrine/exocrine gland  growth/size  liver/biliary system 
     mortality/aging  muscle  nervous system  no phenotypic analysis  renal/urinary system 
     respiratory system 

    PEX13 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Peroxisome
    Peroxisome1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways



    1         Kegg Pathway  (Kegg details for PEX13):
        Peroxisome


    PEX13 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PEX13

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    5/8 Interacting proteins for PEX13 (Q929681, 2, 3 ENSP000002950304) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PEX19P408551, 2, 3, ENSP000003570514EBI-594849,EBI-981972 MINT-7995600 MINT-7995921 MINT-7995949 MINT-7995779 MINT-7995694 MINT-7995793 MINT-7995907 MINT-7995998 MINT-7996014 MINT-7995983 I2D: score=7 STRING: ENSP00000357051
    PEX14O753812, 3, ENSP000003490164MINT-17476 I2D: score=3 STRING: ENSP00000349016
    PEX5P505423, ENSP000004074014I2D: score=1 STRING: ENSP00000407401
    PEX7O006283, ENSP000003156804I2D: score=1 STRING: ENSP00000315680
    GRB2P629933, ENSP000003390074I2D: score=1 STRING: ENSP00000339007
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001561fatty acid alpha-oxidation ISS--
    GO:0001764neuron migration ISS--
    GO:0001967suckling behavior ISS--
    GO:0007626locomotory behavior ISS--
    GO:0016560protein import into peroxisome matrix, docking TAS10704444


    PEX13 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PEX13
    Search CenterWatch for drugs/clinical trials and news about PEX13 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for PEX13 gene: 
    NM_002618.3  

    Unigene Cluster for PEX13:

    Peroxisomal biogenesis factor 13
    Hs.161377  [show with all ESTs]
    Unigene Representative Sequence: NM_002618
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000444100 ENST00000401576(uc010fcj.2 uc002sas.3 uc002sat.3)
    ENST00000472678 ENST00000295030(uc002sau.4) ENST00000414712

    miRNA
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    OriGene 3'-UTR Clone: PEX13
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PEX13
    8/51 QIAGEN miScript miRNA Assays for microRNAs that regulate PEX13 (see all 51):
    hsa-miR-607 hsa-miR-4307 hsa-miR-300 hsa-miR-199a-3p hsa-miR-15a hsa-miR-548k hsa-miR-218-1* hsa-miR-503
    SwitchGear 3'UTR luciferase reporter plasmidPEX13 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PEX13 (see all 7)
    OriGene shRNA RFP: PEX13
    OriGene siRNA: PEX13
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PEX13
    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PEX13 (see all 3)
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    GenScript: all cDNA clones in your preferred vector: PEX13 (NM_002618)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PEX13
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PEX13 
    Primer
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    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PEX13
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PEX13
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PEX13

    Additional cDNA sequence: 

    AB022192.1 AF048755.1 AK093866.1 AK311426.1 AK315244.1 BC020547.1 BC025779.1 BC032755.1 
    BC035584.1 BC040953.1 BC048804.1 BC067090.1 U71374.1 

    12 DOTS entries:

    DT.444456  DT.120989571  DT.100021094  DT.40197800  DT.91867220  DT.100765486  DT.95363132  DT.99989726 
    DT.100745630  DT.102831153  DT.91752599  DT.99930479 

    24/101 AceView cDNA sequences (see all 101):

    BP364866 BM561617 AI693493 U71374 BC048804 AI057352 BM553215 BC025779 
    AI873015 AB022192 AA830720 AF048755 BM716951 BC020547 CR609626 AA953590 
    BI858622 BM552810 BP365464 N40653 BP353092 AW499910 AI268702 BM808580 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for PEX13    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4
    SP1:        -                           
    SP2:                                    


    ECgene alternative splicing isoforms for PEX13

    (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

    PEX13 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTTTAACATT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See PEX13 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PEX13

    SOURCE GeneReport for Unigene cluster: Hs.161377
        SABiosciences Custom PCR Arrays for PEX13
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PEX13

    (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 animals and fungi.

    Orthologs for PEX13 gene from 7/23 species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pex131 , 5 peroxisomal biogenesis factor 131, 5 89.5(n)1
    91.32(a)1
      11 (14.34 cM)5
    721291  NM_023651.41  NP_076140.21 
     236464795 
    chicken
    (Gallus gallus)
    Aves PEX131 peroxisomal biogenesis factor 13 76.6(n)
    77.78(a)
      421197  NM_001199421.1  NP_001186350.1 
    lizard
    (Anolis carolinensis)
    Reptilia PEX136
    --
    74(a)
    1 ↔ 1
    GL343523.1(396485-408974)
    zebrafish
    (Danio rerio)
    Actinopterygii zgc661242 hypothetical protein MGC66124 72.32(n)   393618  BC057464.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta pex131 peroxin 13 43.69(n)
    35.92(a)
      36462  NM_137006.2  NP_610850.1 
    worm
    (Caenorhabditis elegans)
    Secernentea prx-131 Protein PRX-13 50.7(n)
    42.61(a)
      174192  NM_063112.2  NP_495513.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PEX13(YLR191W)4
    PEX131
    Integral peroxisomal membrane protein required for more4
    Pex13p1
    43.57(n)1
    32.92(a)1
      12(537272-538432)4
    8508881, 4  NP_013292.11, 4 


    ENSEMBL Gene Tree for PEX13 (if available)
    TreeFam Gene Tree for PEX13 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/574 NCBI SNPs in PEX13 are shown (see all 574    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs617521151,2
    Cpathogenic61016153(+) ACTTAC/TACCTG 2 T I mis10--------
    rs617521131,2
    Cuntested61016113(+) GTGGTG/TGGCTT 2 G W mis10--------
    rs617521141,2
    Cuntested61016146(+) CAACAG/TGACTT 2 G * stg10--------
    rs773507381,2
    --60983750(+) AGTTCA/TCAAGA 1 -- us2k11Minor allele frequency- T:0.01EA 120
    rs788343841,2
    F,--60983940(+) ACAAAC/ACTCTC 1 -- us2k11Minor allele frequency- A:0.03WA 118
    rs1116905911,2
    --60984277(+) GAATCC/TCTCCT 1 -- us2k11Minor allele frequency- T:0.50CSA 2
    rs1153192131,2
    C,F,--60984613(+) CTAACC/TTCAAG 1 -- us2k11Minor allele frequency- T:0.02NA 120
    rs789413451,2
    --60984810(+) CGGAGC/TCTGAG 1 -- us2k10--------
    rs1133537501,2
    C,--60984882(+) TCTAGC/TAATTC 1 -- us2k12Minor allele frequency- T:0.03CSA WA 120
    rs621509711,2
    C,--60984947(+) GGACTA/GAGTGA 1 -- us2k12Minor allele frequency- G:0.07NA 122

    HapMap Linkage Disequilibrium report for PEX13 (61244360 - 61279125 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for PEX13
         3 CNVs: 2386 3361 8373
    Human Gene Mutation Database (HGMD): PEX13

    Locus Specific Mutation Databases (LSDB): PEX13

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PEX13
    DNA2.0 Custom Variant and Variant Library Synthesis for PEX13

    (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.)
    About This Section

    PEX13 for disorders           About GeneDecksing

    OMIM gene information: 601789   
    OMIM disorders: 214100  202370  
    UniProtKB/Swiss-Prot: PEX13_HUMAN, Q92968
  • Defects in PEX13 are the cause of peroxisome biogenesis disorder complementation group 13 (PBD-CG13)
  • [MIM:614883]; also known as PBD-CGH. PBD-CG13 is 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)
  • Defects in PEX13 are the cause of peroxisome biogenesis disorder 11A (PBD11A) [MIM:614883]. 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
  • Defects in PEX13 are the cause of peroxisome biogenesis disorder 11B (PBD11B) [MIM:614885]. 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

    14 diseases for PEX13:    About MalaCards
    peroxisomal biogenesis disorder    peroxisome biogenesis disorders    peroxisome biogenesis factor    zellweger syndrome
    peroxisome biogenesis disorders (pbd)    rhizomelic chondrodysplasia punctata    chondrodysplasia punctata    infantile refsum disease
    zellweger syndrome spectrum    neonatal adrenoleukodystrophy    refsum disease    adrenoleukodystrophy
    chondrodysplasia    cerebritis

    4 diseases from the University of Copenhagen DISEASES database for PEX13:
    Zellweger syndrome     Adrenoleukodystrophy     Infantile refsum disease     Rhizomelic chondrodysplasia punctata

    1 Novoseek disease relationship for PEX13 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    peroxisome biogenesis disorders 86.3 1 9878256 (1)

    GeneTests: PEX13
    Zellweger Syndrome Spectrum


    Export disorders for PEX13 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 PEX13 gene, integrated from 9 sources (see all 31):
    (articles sorted by number of sources associating them with PEX13)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. PEX13 is mutated in complementation group 13 of the peroxisome- biogenesis disorders. (PubMed id 10441568)1, 2, 9 Liu Y....Gould S.J. (1999)
    2. Genomic structure of PEX13, a candidate peroxisome biogenesis disorder gene. (PubMed id 9878256)1, 3, 9 Bjorkman J....Crane D.I. (1998)
    3. Zellweger syndrome caused by PEX13 deficiency: report of two novel mutations. (PubMed id 19449432)1, 2, 9 Al-Dirbashi O.Y....Alkuraya F.S. (2009)
    4. 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)
    5. Human pex19p binds peroxisomal integral membrane proteins at regions distinct from their sorting sequences. (PubMed id 11390669)1, 2 Fransen M.... Van Veldhoven P.P. (2001)
    6. PEX19 binds multiple peroxisomal membrane proteins, is predominantly cytoplasmic, and is required for peroxisome membrane synthesis. (PubMed id 10704444)1, 2 Sacksteder K.A.... Gould S.J. (2000)
    7. Isolation, characterization and mutation analysis of PEX13-defective Chinese hamster ovary cell mutants. (PubMed id 10441330)1, 2 Toyama R.... Fujiki Y. (1999)
    8. Nonsense and temperature-sensitive mutations in PEX13 are the cause of complementation group H of peroxisome biogenesis disorders. (PubMed id 10332040)1, 2 Shimozawa N.... Kondo N. (1999)
    9. Identification of a human PTS1 receptor docking protein directly required for peroxisomal protein import. (PubMed id 9653144)1, 2 Fransen M.... Subramani S. (1998)
    10. Pex13p is an SH3 protein of the peroxisome membrane and a docking factor for the predominantly cytoplasmic PTs1 receptor. (PubMed id 8858165)1, 2 Gould S.J....Crane D.I. (1996)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5194 HGNC: 8855 AceView: PEX13 Ensembl:ENSG00000162928 euGenes: HUgn5194
    ECgene: PEX13 Kegg: 5194 H-InvDB: PEX13

    (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 PEX13 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PEX13

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for PEX13 gene:
    Search GeneIP for patents involving PEX13

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



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