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

PEX12 Gene

protein-coding   GIFtS: 59
GCID: GC17M033897

Peroxisomal Biogenesis Factor 12

  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 121 2     peroxin-122
Peroxisome Assembly Factor 32 3     Peroxisome Assembly Protein 122
PAF-32 3     PAF33
PBD3A2     Peroxin-123
Peroxin 122     

External Ids:    HGNC: 88541   Entrez Gene: 51932   Ensembl: ENSG000001087337   OMIM: 6017585   UniProtKB: O006233   

Export aliases for PEX12 gene to outside databases

Previous GC identifers: GC17M033671 GC17M035937 GC17M033750 GC17M034047 GC17M030925 GC17M030086


(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 PEX12 Gene:
This gene belongs to the peroxin-12 family. Peroxins (PEXs) are proteins that are essential for the assembly of
functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous
autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal
biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1
phenotype being observed in cases falling into particular complementation groups. Although the clinical features
of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of
peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of Zellweger syndrome (ZWS).
(provided by RefSeq, Oct 2008)

GeneCards Summary for PEX12 Gene: 
PEX12 (peroxisomal biogenesis factor 12) is a protein-coding gene. Diseases associated with PEX12 include peroxisome biogenesis disorders, zellweger syndrome spectrum, and peroxisome biogenesis disorder complementation group 3. GO annotations related to this gene include protein C-terminus binding and zinc ion binding.

UniProtKB/Swiss-Prot: PEX12_HUMAN, O00623
Function: Required for protein import into peroxisomes

Gene Wiki entry for PEX12 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_000017.10  NC_018928.2  NT_010799.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PEX12 gene promoter:
         AREB6   Pax-3   AML1a   Brachyury   ATF-2   AP-2gamma   Cdc5   LCR-F1   En-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPEX12 promoter sequence
   Search SABiosciences Chromatin IP Primers for PEX12

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PEX12


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

Entrez Gene cytogenetic band: 17q12   Ensembl cytogenetic band:  17q12   HGNC cytogenetic band: 17q21.1

PEX12 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PEX12 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M033897:  view genomic region     (about GC identifiers)

Start:
33,901,814 bp from pter      End:
33,905,882 bp from pter
Size:
4,069 bases      Orientation:
minus strand

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

UniProtKB/Swiss-Prot: PEX12_HUMAN, O00623 (See protein sequence)
Recommended Name: Peroxisome assembly protein 12  
Size: 359 amino acids; 40797 Da
Subunit: Interacts with PEX5 and PEX10. Interacts with PEX19 via its cytoplasmic domain
Subcellular location: Peroxisome membrane; Multi-pass membrane protein
Secondary accessions: B2R6M2

Explore the universe of human proteins at neXtProt for PEX12: NX_O00623

Explore proteomics data for PEX12 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O00623

  • PEX12 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PEX12 Protein Expression
    REFSEQ proteins: NP_000277.1  
    ENSEMBL proteins: 
     ENSP00000225873   ENSP00000466894   ENSP00000466280  

    Human Recombinant Protein Products for PEX12: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse recombinant and purified proteins available from Enzo Life Sciences
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    OriGene Protein Over-expression Lysate for PEX12
    OriGene Custom MassSpec 
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    GenScript Custom Purified and Recombinant Proteins Services for PEX12
    Novus Biologicals PEX12 Protein
    Novus Biologicals PEX12 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PEX12 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005777peroxisome IDA9922452
    GO:0005778peroxisomal membrane IDA--
    GO:0005779integral to peroxisomal membrane TAS10562279

    PEX12 for ontologies           About GeneDecksing



    PEX12 Antibody Products: 
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    Cloud-Clone Corp. ELISAs for PEX12 
    Cloud-Clone Corp. CLIAs for PEX12


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     IPR001841 Znf_RING
     IPR013083 Znf_RING/FYVE/PHD
     IPR017375 PEX12
     IPR006845 Pex_N

    Graphical View of Domain Structure for InterPro Entry O00623

    ProtoNet protein and cluster: O00623

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


    UniProtKB/Swiss-Prot: PEX12_HUMAN, O00623
    Similarity: Belongs to the pex2/pex10/pex12 family
    Similarity: Contains 1 RING-type zinc finger


    PEX12 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: PEX12_HUMAN, O00623
    Function: Required for protein import into peroxisomes

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI10562279
    GO:0008022protein C-terminus binding IPI10562279
    GO:0008270zinc ion binding IMP10562279
         
    PEX12 for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI phenotypic allele for Pex12 (no phenotypes)

    PEX12 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Pex12tm1(KOMP)Vlcg for PEX12

       inGenious Targeting Laboratory - Custom generated mouse model solutions for PEX12 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for PEX12

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PEX12 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PEX12 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PEX12
    5 QIAGEN miScript miRNA Assays for microRNAs that regulate PEX12:
    hsa-miR-485-5p hsa-miR-376b hsa-miR-501-5p hsa-miR-4282 hsa-miR-376a
    SwitchGear 3'UTR luciferase reporter plasmidPEX12 3' UTR sequence
    Inhib. RNA
    Products:
        
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    OriGene RNAi products in human, mouse, rat for PEX12
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    Gene Editing
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    Clone
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                         Customized lentivirus expression plasmids for stable overexpression of PEX12 

    Cell Line
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    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PEX12


    (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 PEX12 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Peroxisome
    Peroxisome

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1         Kegg Pathway  (Kegg details for PEX12):
        Peroxisome


    PEX12 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PEX12

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    5/6 Interacting proteins for PEX12 (O006231, 2, 3 ENSP000002258734) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PEX5P505421, 2, 3, ENSP000004074014EBI-594836,EBI-597835 MINT-17392 I2D: score=5 STRING: ENSP00000407401
    PEX19P408551, 3, ENSP000003570514EBI-594836,EBI-594747 I2D: score=4 STRING: ENSP00000357051
    PEX10O606833, ENSP000002887744I2D: score=4 STRING: ENSP00000288774
    UBE2D2P628373I2D: score=1 
    PEX14ENSP000003490164STRING: ENSP00000349016
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006625protein targeting to peroxisome NAS12096124
    GO:0007031peroxisome organization IMP17534573
    GO:0016558protein import into peroxisome matrix NAS12456682

    PEX12 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

    PEX12 for compounds           About GeneDecksing

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

    Browse Tocris compounds for PEX12

    1 Novoseek inferred chemical compound relationship for PEX12 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    zinc 23 6 10562279 (4)

    Search CenterWatch for drugs/clinical trials and news about PEX12

    (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 PEX12 gene: 
    NM_000286.2  

    Unigene Cluster for PEX12:

    Peroxisomal biogenesis factor 12
    Hs.591190  [show with all ESTs]
    Unigene Representative Sequence: NM_000286
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000225873(uc002hjp.3) ENST00000586663 ENST00000585380
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PEX12
    5 QIAGEN miScript miRNA Assays for microRNAs that regulate PEX12:
    hsa-miR-485-5p hsa-miR-376b hsa-miR-501-5p hsa-miR-4282 hsa-miR-376a
    SwitchGear 3'UTR luciferase reporter plasmidPEX12 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for PEX12
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PEX12
    Clone
    Products:
         
    OriGene clones in human, mouse for PEX12 (see all 7)
    OriGene ORF clones in mouse, rat for PEX12
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: PEX12 (NM_000286)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PEX12
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PEX12
    Sirion Biotech Customized lentivirus for stable overexpression of PEX12 
                         Customized lentivirus expression plasmids for stable overexpression of PEX12 
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for PEX12
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat PEX12
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PEX12
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PEX12

    Additional mRNA sequence: 

    AB004546.1 AK312635.1 BC015751.1 BC031085.1 U91521.1 

    4 DOTS entries:

    DT.97785066  DT.113341  DT.120915363  DT.97822623 

    24/73 AceView cDNA sequences (see all 73):

    AW014142 AI359152 BM905290 CF144421 BX505606 AI341587 AW451678 BC015751 
    CD366641 BQ429412 AA694441 Z38759 AI709237 U91521 H45551 BU683194 
    BG762646 Z44047 BI560769 BP361992 BX501719 BU619393 AW003059 BC031085 

    GeneLoc Exon Structure


    (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

    PEX12 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AATTATTCTG
    PEX12 Expression
    About this image


    See PEX12 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PEX12

    SOURCE GeneReport for Unigene cluster: Hs.591190
        SABiosciences Expression via Pathway-Focused PCR Array including PEX12: 
              Ubiquitin Ligases in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PEX12

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

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for PEX12 gene from 9/19 species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pex121 , 5 peroxisomal biogenesis factor 121, 5 87(n)1
    89.42(a)1
      11 (50.30 cM)5
    1037371  NM_134025.31  NP_598786.11 
     832946425 
    chicken
    (Gallus gallus)
    Aves PEX121 peroxisomal biogenesis factor 12 72.19(n)
    76.69(a)
      417526  XM_415773.2  XP_415773.2 
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.150352 Xenopus laevis transcribed sequence with weak similarity more 74.06(n)    BX852868.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc561822 hypothetical protein MGC56182 71.46(n)   393174  AY391447.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta pex121 peroxin 12 42.29(n)
    32.62(a)
      33256  NM_134702.2  NP_608546.1 
    worm
    (Caenorhabditis elegans)
    Secernentea prx-121 Protein PRX-12 48.48(n)
    39.63(a)
      181331  NM_077507.4  NP_509908.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PEX12(YMR026C)4 C3HC4-type RING-finger peroxin and E3 ubiquitin ligase, more   --   13(325435-324236) 855041  NP_013739.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons PEX121 peroxin-12 44.81(n)
    34.74(a)
      819602  NM_111317.3  NP_187096.2 
    rice
    (Oryza sativa)
    Liliopsida Os10g04672001 hypothetical protein 45.3(n)
    33.23(a)
      4348849  NM_001071344.1  NP_001064809.1 


    ENSEMBL Gene Tree for PEX12 (if available)
    TreeFam Gene Tree for PEX12 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PEX12 gene

    PEX12 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for PEX12
    PGOHUM00000248660


    (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

    10/180 SNPs in PEX12 are shown (see all 180)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289366971,2,4
    CPeroxisome biogenesis disorder 3B (PBD3B)4 pathogenic130087902(-) CACCTC/TTGGCT 2 S F mis1 ese30--------
    rs1475308021,2,4
    C,FPeroxisome biogenesis disorder complementation group 3 (PBD-CG3)4 --30089919(+) GCGGGT/ACTCAC 2 /R /S mis12Minor allele frequency- A:0.01NA EU 5873
    rs617521121,2
    Cpathogenic130087912(-) CTGTTC/TTTGCC 2 L F mis10--------
    rs1048946161,2
    Cpathogenic130088170(-) GTGAGA/TAGATA 2 K * stg10--------
    rs617521031,2
    Cpathogenic130089179(-) AACTTC/TGATAC 2 R * stg10--------
    rs289366981,2
    Cpathogenic130089444(-) AAGAGA/TATTGT 2 R S mis1 ese30--------
    rs617521101,2
    Cuntested130087973(-) TCCCC-/TCTTACC 2 T L fra10--------
    rs617521111,2
    Cuntested130087974(-) TCCCC-/TCTTAC 2 P L fra10--------
    rs617521091,2
    Cuntested130087985(-) TAACT-/CTGATTC 2 * S fra10--------
    rs617521081,2
    Cuntested130088116(-) TGTCT-/TACTGG 2 T YW fra10--------

    HapMap Linkage Disequilibrium report for PEX12 (33901814 - 33905882 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for PEX12:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv2038CNV Insertion18451855
    nsv908079CNV Loss21882294


    Human Gene Mutation Database (HGMD): PEX12

    Locus Specific Mutation Databases (LSDB): PEX12
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing PEX12
    DNA2.0 Custom Variant and Variant Library Synthesis for PEX12

    (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: 601758    OMIM disorders: --

    UniProtKB/Swiss-Prot: PEX12_HUMAN, O00623
  • Peroxisome biogenesis disorder complementation group 3 (PBD-CG3) [MIM:614859]: 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 3A (PBD3A) [MIM:614859]: 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 3B (PBD3B) [MIM:266510]: 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

  • 15 diseases for PEX12:    About MalaCards
    peroxisome biogenesis disorders, zellweger syndrome spectrum    peroxisome biogenesis disorder complementation group 3    zellweger spectrum    peroxisome biogenesis disorders
    zellweger syndrome    infantile refsum disease    neonatal adrenoleukodystrophy    refsum disease
    rhizomelic chondrodysplasia punctata    hypotonia    adrenoleukodystrophy    peroxisome disorders
    chondrodysplasia    sensorineural hearing loss    retinitis

    4 diseases from the University of Copenhagen DISEASES database for PEX12:
    Zellweger syndrome     Infantile refsum disease     Rhizomelic chondrodysplasia punctata     Adrenoleukodystrophy

    PEX12 for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for PEX12 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    peroxisome biogenesis disorders 96.5 3 15184617 (1), 10837480 (1), 14571262 (1)
    zellweger syndrome 93.9 4 9632816 (2), 10562279 (1)

    GeneTests: PEX12
    GeneReviews: PEX12

    Export disorders for PEX12 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 PEX12 gene, integrated from 9 sources (see all 34):
    (articles sorted by number of sources associating them with PEX12)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Isolation of the human PEX12 gene, mutated in group 3 of the peroxisome biogenesis disorders. (PubMed id 9090384)1, 2, 3, 9 Chang C.-C.... Gould S.J. (1997)
    2. PEX12 interacts with PEX5 and PEX10 and acts downstream of receptor docking in peroxisomal matrix protein import. (PubMed id 10562279)1, 2, 9 Chang C.C.... Gould S.J. (1999)
    3. PEX12, the pathogenic gene of group III Zellweger syndrome: cDNA cloning by functional complementation on a CHO cell mutant, patient analysis, and characterization of PEX12p. (PubMed id 9632816)1, 2, 9 Okumoto K.... Fujiki Y. (1998)
    4. Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. (PubMed id 19105186)1, 2, 9 Yik W.Y....Hacia J.G. (2009)
    5. 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)
    6. 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)
    7. 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)
    8. Phenotype-genotype relationships in complementation group 3 of the peroxisome-biogenesis disorders. (PubMed id 9792857)1, 9 Chang C.C. and Gould S.J. (1998)
    9. Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder. (PubMed id 14571262)1, 9 Gootjes J....Wanders R.J. (2004)
    10. A novel PEX12 mutation identified as the cause of a peroxisomal biogenesis disorder with mild clinical phenotype, mild biochemical abnormalities in fibroblasts and a mosaic catalase immunofluorescence pattern, even at 40 degrees C. (PubMed id 17534573)1, 9 Zeharia A....Korman S.H. (2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5193 HGNC: 8854 AceView: PEX12 Ensembl:ENSG00000108733 euGenes: HUgn5193
    ECgene: PEX12 Kegg: 5193 H-InvDB: PEX12

    (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 PEX12 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PEX12
    dbPEX, PEX Gene Databasehttp://www.dbpex.org/home.php?select_db=PEX12

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for PEX12 gene:
    Search GeneIP for patents involving PEX12

    GeneCards and IP:
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