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

PEX14 Gene

protein-coding   GIFtS: 66
GCID: GC01P010532

Peroxisomal Biogenesis Factor 14

  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 141 2     NF-E2 Associated Polypeptide 22
Peroxisomal Membrane Anchor Protein PEX142 3     peroxin-142
PTS1 Receptor-Docking Protein2 3     Peroxisomal Membrane Anchor Protein Pex14p2
NAPP22     Peroxisomal Membrane Protein PEX142
PBD13A2     PTS1 Receptor Docking Protein2
Pex14p2     Peroxin-143
dJ734G22.22     

External Ids:    HGNC: 88561   Entrez Gene: 51952   Ensembl: ENSG000001426557   OMIM: 6017915   UniProtKB: O753813   

Export aliases for PEX14 gene to outside databases

Previous GC identifers: GC01P010496 GC01P010378 GC01P010144 GC01P010244 GC01P010469 GC01P009688


(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 PEX14 Gene:
This gene encodes an essential component of the peroxisomal import machinery. The protein is integrated into
peroxisome membranes with its C-terminus exposed to the cytosol, and interacts with the cytosolic receptor for
proteins containing a PTS1 peroxisomal targeting signal. The protein also functions as a transcriptional
corepressor and interacts with a histone deacetylase. A mutation in this gene results in one form of Zellweger
syndrome. (provided by RefSeq, Jul 2008)

GeneCards Summary for PEX14 Gene: 
PEX14 (peroxisomal biogenesis factor 14) is a protein-coding gene. Diseases associated with PEX14 include peroxisome biogenesis disorders, and zellweger syndrome. GO annotations related to this gene include microtubule binding and receptor binding.

UniProtKB/Swiss-Prot: PEX14_HUMAN, O75381
Function: Component of the peroxisomal translocation machinery with PEX13 and PEX17. Interacts with both the PTS1
and PTS2 receptors. Binds directly to PEX17

Gene Wiki entry for PEX14 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_000001.10  NT_021937.19  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PEX14 gene promoter:
         HOXA9   HOXA9B   p53   NRSF form 1   Pax-2   Pax-2a   NRSF form 2   Meis-1   Meis-1b   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPEX14 promoter sequence
   Search SABiosciences Chromatin IP Primers for PEX14

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PEX14


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

Entrez Gene cytogenetic band: 1p36.22   Ensembl cytogenetic band:  1p36.22   HGNC cytogenetic band: 1p36.22

PEX14 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PEX14 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P010532:  view genomic region     (about GC identifiers)

Start:
10,532,345 bp from pter      End:
10,690,815 bp from pter
Size:
158,471 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: PEX14_HUMAN, O75381 (See protein sequence)
Recommended Name: Peroxisomal membrane protein PEX14  
Size: 377 amino acids; 41237 Da
Subunit: Interacts with PEX5 and PEX19
Subcellular location: Peroxisome membrane; Peripheral membrane protein; Cytoplasmic side
2 PDB 3D structures from and Proteopedia for PEX14:
2W84 (3D)        2W85 (3D)    
Secondary accessions: B2R7N1 B3KML6 B7Z1N2 Q8WX51
Alternative splicing: 2 isoforms:  O75381-1   O75381-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PEX14: NX_O75381

Explore proteomics data for PEX14 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O75381

  • PEX14 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PEX14 Protein Expression
    REFSEQ proteins: NP_004556.1  
    ENSEMBL proteins: 
     ENSP00000349016   ENSP00000465473   ENSP00000444877  

    Human Recombinant Protein Products for PEX14: 
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    Novus Biologicals PEX14 Proteins
    Novus Biologicals PEX14 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
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    Cloud-Clone Corp. Proteins for PEX14 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular IDA--
    GO:0005634nucleus NAS11863372
    GO:0005777peroxisome IDA16449325
    GO:0005778peroxisomal membrane ISS--
    GO:0016021integral to membrane ISS--

    PEX14 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR006785 Pex14_N
     IPR025655 PEX14

    Graphical View of Domain Structure for InterPro Entry O75381

    ProtoNet protein and cluster: O75381

    1 Blocks protein domain: IPB006785 Peroxisomal membrane anchor protein (Pex14p)

    UniProtKB/Swiss-Prot: PEX14_HUMAN, O75381
    Similarity: Belongs to the peroxin-14 family


    PEX14 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: PEX14_HUMAN, O75381
    Function: Component of the peroxisomal translocation machinery with PEX13 and PEX17. Interacts with both the PTS1
    and PTS2 receptors. Binds directly to PEX17

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003714transcription corepressor activity IDA11863372
    GO:0005102receptor binding IPI10022913
    GO:0005515protein binding IPI10562279
    GO:0008017microtubule binding IDA--
    GO:0047485protein N-terminus binding IPI11863372
         
    PEX14 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for PEX14:
     Increased HPV18 LCR reporter a 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Pex14):
     mortality/aging 

    PEX14 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for PEX14 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PEX14 
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    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidPEX14 3' UTR sequence
    Inhib. RNA
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PEX14


    (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 PEX14 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Peroxisome
    Peroxisome

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways




    1         Kegg Pathway  (Kegg details for PEX14):
        Peroxisome


    PEX14 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PEX14

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

    5/69 Interacting proteins for PEX14 (O753811, 2, 3 ENSP000003490164) via UniProtKB, MINT, STRING, and/or I2D (see all 69)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PEX19P408551, 2, 3, ENSP000003570514EBI-594898,EBI-594747 MINT-7231254 MINT-7231203 MINT-7231237 MINT-7231271 MINT-16255 MINT-7231050 MINT-7231343 MINT-7231288 MINT-16254 MINT-7231305 MINT-7231362 MINT-7231220 MINT-7231326 I2D: score=6 STRING: ENSP00000357051
    PEX5P505422, 3, ENSP000004074014MINT-7231073 MINT-7231117 MINT-7231103 MINT-15777 MINT-15776 MINT-7231169 MINT-7231399 MINT-7231152 MINT-7231131 MINT-7231036 MINT-7231186 MINT-7231089 I2D: score=5 STRING: ENSP00000407401
    MED8Q96G252, 3, ENSP000002906634MINT-63204 I2D: score=5 STRING: ENSP00000290663
    PEX13Q929682, 3, ENSP000002950304MINT-17476 I2D: score=3 STRING: ENSP00000295030
    SCP2P223072, 3, ENSP000003605694MINT-7996187 I2D: score=1 STRING: ENSP00000360569
    About this table

    Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006461protein complex assembly IDA--
    GO:0007031peroxisome organization ISS--
    GO:0016558protein import into peroxisome matrix IMP15146459
    GO:0016561protein import into peroxisome matrix, translocation IDA--
    GO:0032091negative regulation of protein binding IDA--

    PEX14 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

    PEX14 for compounds           About GeneDecksing

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

    Browse Tocris compounds for PEX14

    1 Novoseek inferred chemical compound relationship for PEX14 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glucose 0 1 12386344 (1)

    Search CenterWatch for drugs/clinical trials and news about PEX14

    (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 PEX14 gene: 
    NM_004565.2  

    Unigene Cluster for PEX14:

    Peroxisomal biogenesis factor 14
    Hs.149983  [show with all ESTs]
    Unigene Representative Sequence: NM_004565
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000472851 ENST00000356607(uc001arl.3 uc001arm.1 uc001arn.3 uc009vmv.3 uc010oam.2 uc010oan.2 uc009vmw.3)
    ENST00000491661(uc009vmu.1) ENST00000492696 ENST00000538836
    miRNA
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    4 QIAGEN miScript miRNA Assays for microRNAs that regulate PEX14:
    hsa-miR-377 hsa-miR-3121-3p hsa-miR-556-3p hsa-miR-1284
    SwitchGear 3'UTR luciferase reporter plasmidPEX14 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: PEX14 (NM_004565)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PEX14
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PEX14
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PEX14

    Additional mRNA sequence: 

    AB017546.1 AF045186.1 AK002194.1 AK293684.1 AK298136.1 AK307416.1 AK307462.1 AK310726.1 
    AK313046.1 BC006327.2 BC017848.1 BC054017.1 BC130004.1 CR450321.1 CR542083.1 

    17 DOTS entries:

    DT.453104  DT.100787227  DT.40192647  DT.121453772  DT.99988581  DT.100787228  DT.100699160  DT.100787226 
    DT.121453700  DT.91766274  DT.101969471  DT.121453709  DT.121453774  DT.91827207  DT.101980203  DT.91822355 
    DT.91870771 

    24/218 AceView cDNA sequences (see all 218):

    BF002143 BM742923 Z44198 CD368257 AI189526 AF045186 CR542083 BM545867 
    BM719027 CR601012 BQ068236 CD672112 BF768976 BU623567 BM799693 BP375104 
    AW470634 AA935119 BQ681793 CR599838 AI184072 BC006327 AI951782 BU168585 

    GeneLoc Exon Structure

    5/9 Alternative Splicing Database (ASD) splice patterns (SP) for PEX14 (see all 9)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b · 12c ^ 13 ^ 14 ^ 15a · 15b
    SP1:                    -           -     -     -     -     -                 -     -                 -           -                           
    SP2:                                -     -     -     -     -                 -     -     -           -           -                           
    SP3:                    -           -           -                                                                                             
    SP4:                    -           -     -     -     -     -                 -                                                               
    SP5:                    -           -     -     -     -     -                 -     -     -           -                                       


    ECgene alternative splicing isoforms for PEX14

    (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

    PEX14 expression in normal human tissues (normalized intensities)      PEX14 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TATAGACCTC
    PEX14 Expression
    About this image


    PEX14 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/14 selected tissues (see all 14) fully expand
     
     Brain (Nervous System)    fully expand to see all 7 entries
             Cerebral Cortex
             ganglion/cranial   
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Limb (Muscoskeletal System)    fully expand to see all 2 entries
             limb/hindlimb   
     
     Peripheral Nervous System (Nervous System)
             spinal/ganglion/dorsal root ganglion   
     
     Lung (Respiratory System)
             alveolar macrophages   

    See PEX14 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PEX14

    SOURCE GeneReport for Unigene cluster: Hs.149983
        SABiosciences Custom PCR Arrays for PEX14
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PEX14

    (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 PEX14 gene from 8/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pex141 , 5 peroxisomal biogenesis factor 141, 5 89.01(n)1
    93.35(a)1
      4 (78.87 cM)5
    562731  NM_019781.21  NP_062755.11 
     1489605355 
    chicken
    (Gallus gallus)
    Aves PEX141 peroxisomal biogenesis factor 14 78.04(n)
    81.07(a)
      771421  XM_001234696.2  XP_001234697.1 
    lizard
    (Anolis carolinensis)
    Reptilia PEX146
    Uncharacterized protein
    77(a)
    1 ↔ 1
    GL343565.1(149796-175907)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.54372 Xenopus laevis transcribed sequence with weak similarity more 73.25(n)    BX843464.1 
    zebrafish
    (Danio rerio)
    Actinopterygii pex141 peroxisomal biogenesis factor 14 69.93(n)
    68.88(a)
      559933  XM_683329.4  XP_688421.4 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG42891 CG4289 46.38(n)
    32.77(a)
      40294  NM_140996.3  NP_649253.1 
    worm
    (Caenorhabditis elegans)
    Secernentea prx-146
    Protein PRX-14
    22(a)
    1 ↔ 1
    IV(11183136-11184304)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PEX14(YGL153W)4 Peroxisomal membrane peroxin that is a central component more   --   7(216273-217298) 852724  NP_011362.1 


    ENSEMBL Gene Tree for PEX14 (if available)
    TreeFam Gene Tree for PEX14 (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

    10/3061 SNPs in PEX14 are shown (see all 3061)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs617521161,2
    Cpathogenic110701374(+) AGATCC/TAGGAG 2 Q * stg10--------
    rs352007321,2
    C--9694458(+) CTCTT-/TCTCTCT 1 -- int10--------
    rs347717981,2
    C,F--9713061(+) AACAA-/T/TT  
            
    TTTTT
    1 -- int12NA CSA 4
    rs590030111,2
    C--9724662(+) GGCAGCAGA    
       GCT
    /-
    GCTGG
    1 -- int11Minor allele frequency- -:0.50NA 2
    rs25068851,2
    C,F--9734585(+) TTTTTT/AAACAT 1 -- int12Minor allele frequency- A:0.50WA NA 4
    rs339635101,2
    C--9767732(+) AATAC-/A/AA  
            
    AAAAA
    1 -- int11NA 2
    rs709972531,2
    C--9778737(+) TTTTT-/TGTAGA 1 -- int12Minor allele frequency- T:0.25NA 4
    rs124081451,2
    C,H--9802007(+) tttttA/TtAAAA 1 -- int1 trp30--------
    rs1116047201,2
    C--9806120(+) CTTTGG/TTTGGT 1 -- int11Minor allele frequency- T:0.00CSA 1
    rs339191821,2
    C--9809955(+) AAGAA-/GGATGC 1 -- int10--------

    HapMap Linkage Disequilibrium report for PEX14 (10532345 - 10690815 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/18 variations for PEX14 (see all 18):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2665377CNV Deletion23128226
    esv2421360CNV Deletion20811451
    esv2743674CNV Deletion23290073
    esv2743685CNV Deletion23290073
    esv2662921CNV Deletion23128226
    nsv2521CNV Loss18451855
    dgv135n71CNV Loss21882294
    nsv517464CNV Loss19592680
    dgv134n71CNV Loss21882294
    nsv818777CNV Loss17921354


    Human Gene Mutation Database (HGMD): PEX14

    Locus Specific Mutation Databases (LSDB): PEX14
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing PEX14
    DNA2.0 Custom Variant and Variant Library Synthesis for PEX14

    (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: 601791   
    OMIM disorders: 214100  
    UniProtKB/Swiss-Prot: PEX14_HUMAN, O75381
  • Peroxisome biogenesis disorder complementation group K (PBD-CGK) [MIM:614887]: 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 13A (PBD13A) [MIM:614887]: 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

  • 13 diseases for PEX14:    About MalaCards
    peroxisome biogenesis disorders    zellweger syndrome    neonatal adrenoleukodystrophy    infantile refsum disease
    craniofacial abnormalities    refsum disease    rhizomelic chondrodysplasia punctata    peroxisome disorders
    adrenoleukodystrophy    corneal dystrophy    chondrodysplasia    hypotonia
    neuroblastoma

    2 diseases from the University of Copenhagen DISEASES database for PEX14:
    Zellweger syndrome     Adrenoleukodystrophy

    PEX14 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for PEX14 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tumors 0 1 17044048 (1)

    GeneTests: PEX14
    GeneReviews: PEX14
    Genetic Association Database (GAD): PEX14
    Human Genome Epidemiology (HuGE) Navigator: PEX14 (4 documents)

    Export disorders for PEX14 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 PEX14 gene, integrated from 9 sources (see all 54):
    (articles sorted by number of sources associating them with PEX14)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of a human PTS1 receptor docking protein directly required for peroxisomal protein import. (PubMed id 9653144)1, 2, 3, 9 Fransen M.... Subramani S. (1998)
    2. Identification of a new complementation group of the peroxisome biogenesis disorders and PEX14 as the mutated gene. (PubMed id 15146459)1, 2, 9 Shimozawa N.... Kondo N. (2004)
    3. The peroxin Pex14p. cDNA cloning by functional complementation on a Chinese hamster ovary cell mutant, characterization, and functional analysis. (PubMed id 10212238)1, 2, 9 Shimizu N.... Fujiki Y. (1999)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    5. Genome-wide association identifies ATOH7 as a major g ene determining human optic disc size. (PubMed id 20395239)1, 4 Macgregor S....Mackey D.A. (2010)
    6. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    7. Structural basis for competitive interactions of Pex14 with the import receptors Pex5 and Pex19. (PubMed id 19197237)1, 2 Neufeld C....Sattler M. (2009)
    8. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    9. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)

    (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: 5195 HGNC: 8856 AceView: PEX14 Ensembl:ENSG00000142655 euGenes: HUgn5195
    ECgene: PEX14 Kegg: 5195 H-InvDB: PEX14

    (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 PEX14 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PEX14

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for PEX14 gene:
    Search GeneIP for patents involving PEX14

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



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    About This Section

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