Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

PEX13 Gene

protein-coding   GIFtS: 66
GCID: GC02P061244

Peroxisomal Biogenesis Factor 13

(Previous name: peroxisome biogenesis factor 13)
  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 131 2     PBD11B2
Peroxisome Biogenesis Factor 131 2     peroxin-132
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 Gene:
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)

GeneCards Summary for PEX13 Gene: 
PEX13 (peroxisomal biogenesis factor 13) is a protein-coding gene. Diseases associated with PEX13 include neonatal adrenoleukodystrophy, and zellweger spectrum. GO annotations related to this gene include protein binding.

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 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_000002.11  NC_018913.2  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 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: 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

Explore proteomics data for PEX13 at MOPED 

Post-translational modifications:

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

  • PEX13 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PEX13 Protein Expression
    REFSEQ proteins: NP_002609.1  
    ENSEMBL proteins: 
     ENSP00000405184   ENSP00000384738   ENSP00000295030   ENSP00000405413  

    Human Recombinant Protein Products for PEX13: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for PEX13
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for PEX13
    GenScript Custom Purified and Recombinant Proteins Services for PEX13
    Novus Biologicals PEX13 Proteins
    Novus Biologicals PEX13 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PEX13 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005777peroxisome IDA11829486
    GO:0005778peroxisomal membrane IDA11402059
    GO:0005779integral to peroxisomal membrane IDA8858165
    GO:0016021integral to membrane ----

    PEX13 for ontologies           About GeneDecksing



    PEX13 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of PEX13
    Browse R&D Systems for Antibodies
    OriGene Antibodies for PEX13
    OriGene Custom Antibody Services for PEX13
    GenScript Custom Superior Antibodies Services for PEX13
    Novus Biologicals PEX13 Antibodies
    Abcam antibodies for PEX13
    Cloud-Clone Corp. Antibodies for PEX13 
    ThermoFisher Antibodies for PEX13
    LSBio Antibodies in human, mouse, rat for PEX13 

    Assay Products for PEX13: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for PEX13
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for PEX13
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for PEX13 
    Cloud-Clone Corp. CLIAs for PEX13


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR001452 SH3_domain
     IPR007223 Peroxin-13_N

    Graphical View of Domain Structure for InterPro Entry Q92968

    ProtoNet protein and cluster: Q92968

    2 Blocks protein domains:
    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


    PEX13 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: 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

         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


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

         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

    Animal Models:
         MGI mouse knock-out Pex13tm1.1Crne for PEX13

       inGenious Targeting Laboratory - Custom generated mouse model solutions for PEX13 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for PEX13

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PEX13 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PEX13 

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

    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 RNAi products in human, mouse, rat for PEX13
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PEX13

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for PEX13
    Sirion Biotech Customized adenovirus for overexpression of PEX13

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for PEX13 (see all 7)
    OriGene ORF clones in mouse, rat for PEX13
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: PEX13 (NM_002618)
    Sino Biological Human cDNA Clone for PEX13
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PEX13
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PEX13
    Sirion Biotech Customized lentivirus for stable overexpression of PEX13 
                         Customized lentivirus expression plasmids for stable overexpression of PEX13 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for PEX13
    Search LifeMap BioReagents cell lines for PEX13
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PEX13


    (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 PEX13 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Peroxisome
    Peroxisome

    Pathways by source                                                                                                                                                                 See SuperPaths
    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-594747 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, 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
    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 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    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 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
    Products:
         
    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 RNAi products in human, mouse, rat for PEX13
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PEX13
    Clone
    Products:
         
    OriGene clones in human, mouse for PEX13 (see all 7)
    OriGene ORF clones in mouse, rat for PEX13
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    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
    Sirion Biotech Customized lentivirus for stable overexpression of PEX13 
                         Customized lentivirus expression plasmids for stable overexpression of PEX13 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for PEX13
    OriGene qSTAR qPCR primer pairs in human, mouse for PEX13
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat PEX13
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PEX13
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PEX13

    Additional mRNA 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):

    BM561617 BM552810 U71374 BP365464 AA953590 BP353092 AI057352 BP364866 
    N40653 BC025779 CR609626 AI693493 AA830720 AI873015 BM716951 BI858622 
    BM553215 BC048804 AB022192 AF048755 BC020547 AW499910 CD654949 AI767256 

    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)      PEX13 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTTAACATT
    PEX13 Expression
    About this image


    PEX13 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/31 selected tissues (see all 31) fully expand
     
     Testis (Reproductive System)    fully expand to see all 5 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
             sperm   
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Epithelium
             oral mucosa ; squamous epithelial cells   
     
     Blood (Hematopoietic System)    fully expand to see all 3 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             lung ; macrophages   
             monocyte-derived macrophage   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 3 entries
             colon ; peripheral nerve/ganglion   

    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
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for PEX13
    OriGene qSTAR qPCR primer pairs in human, mouse for PEX13
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat PEX13
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PEX13
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PEX13
    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 7/18 species (see all 18)    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
    Uncharacterized protein
    77(a)
    1 ↔ 1
    GL343523.1(396485-409192)
    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, 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

    10/680 SNPs in PEX13 are shown (see all 680)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0093064
    Peroxisome biogenesis disorder 11B (PBD11B)4--see VAR_0093062 I T mis40--------
    rs617521151,2
    Cpathogenic161141206(+) ACTTAC/TACCTG 2 T I mis10--------
    rs617521131,2
    Cuntested161141166(+) GTGGTG/TGGCTT 2 G W mis10--------
    rs617521141,2
    Cuntested161141199(+) CAACAG/TGACTT 2 G * stg10--------
    rs773507381,2
    F--61108790(+) AGTTCA/TCAAGA 1 -- us2k11Minor allele frequency- T:0.01EA 120
    rs1466522811,2
    --61108888(+) AACTTA/CCAGTC 1 -- us2k10--------
    rs1854817421,2
    --61108964(+) AACGAA/GCTATG 1 -- us2k10--------
    rs788343841,2
    F--61108980(+) ACAAAC/ACTCTC 1 -- us2k11Minor allele frequency- A:0.03WA 118
    rs1907737091,2
    --61109199(+) CCAGTG/TTTGGT 1 -- us2k10--------
    rs1116905911,2
    C,F--61109317(+) GAATCC/TCTCCT 1 -- us2k11Minor allele frequency- T:0.50CSA 2

    HapMap Linkage Disequilibrium report for PEX13 (61244360 - 61279125 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for PEX13:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv874210CNV Gain21882294


    Human Gene Mutation Database (HGMD): PEX13

    Locus Specific Mutation Databases (LSDB): PEX13
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 601789   
    OMIM disorders: 214100  202370  
    UniProtKB/Swiss-Prot: PEX13_HUMAN, Q92968
  • Peroxisome biogenesis disorder complementation group 13 (PBD-CG13) [MIM:614883]: 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 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. Note=The
    disease is caused by mutations affecting the gene represented in this entry
  • 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. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 16 diseases for PEX13:    About MalaCards
    neonatal adrenoleukodystrophy    zellweger spectrum    peroxisome biogenesis disorders    infantile refsum disease
    adrenoleukodystrophy    zellweger syndrome    refsum disease    rhizomelic chondrodysplasia punctata
    peroxisome disorders    chondrodysplasia    sensorineural hearing loss    hypotonia
    crohn's disease    cerebritis    retinitis    neuronitis

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

    PEX13 for disorders           About GeneDecksing

    1 Novoseek inferred 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
    GeneReviews: PEX13

    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 36):
    (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
    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: 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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     Browse Kits and Assays available from EMD Millipore
     Browse for Gene Knock-down Tools from EMD Millipore
     Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
     EMD Millipore Mono- and Polyclonal Antibodies for the study of PEX13
     Browse Purified and Recombinant Proteins at EMD Millipore
     Browse Small Molecules at EMD Millipore
     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for PEX13   OriGene RNAi products in human, mouse, rat for PEX13  
     OriGene qPCR primer pairs and template standards for PEX13   OriGene Protein Over-expression Lysate for PEX13  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for PEX13  
     OriGene qSTAR qPCR primer pairs in human, mouse for PEX13   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for PEX13   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for PEX13   OriGene Custom Protein Services for PEX13  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat PEX13
     QIAGEN SeqTarget long-range PCR primers for resequencing PEX13
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PEX13
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PEX13
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PEX13
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PEX13
     GenScript Custom Purified and Recombinant Proteins Services for PEX13 GenScript cDNA clones with any tag delivered in your preferred vector for PEX13
     GenScript Custom Assay Services for PEX13 GenScript Custom Superior Antibodies Services for PEX13
     GenScript Custom overexpressing Cell Line Services for PEX13 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in PEX13 promoter
     Search Chromatin IP Primers for PEX13
     RT2 qPCR Primer Assay in human, mouse, rat PEX13
     GNC Network for PEX13
     SABiosciences Custom PCR Arrays for PEX13
     Search Tocris compounds for PEX13
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological Cell Lysates
     cDNA Clones for PEX13
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     PEX13 antibodies
     PEX13 proteins
     PEX13 lysates
     Antibodies for PEX13
     See all of Abcam's Antibodies, Kits and Proteins for PEX13
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Proteins for PEX13
     Antibodies for PEX13
     ELISAs for PEX13
     CLIAs for PEX13
     Search LifeMap BioReagents cell lines for PEX13
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PEX13
     SwitchGear 3'UTR luciferase reporter plasmids for PEX13
     SwitchGear Promoter luciferase reporter plasmids for PEX13
     ThermoFisher Antibodies for PEX13
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PEX13
     inGenious Targeting Laboratory - Custom generated mouse model solutions for PEX13
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for PEX13
    Customized:
     lentivirus for stable overexpression of PEX13
     lentivirus expression plasmids for stable overexpression of PEX13
     adenovirus for overexpression of PEX13
     LSBio Antibodies in human, mouse, rat for PEX13
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      PEX13 gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 106 solr: 1.4