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PEX16 Gene

protein-coding   GIFtS: 60
GCID: GC11M045931

Peroxisomal Biogenesis Factor 16

  See PEX16-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Peroxisomal Biogenesis Factor 161 2 3     Peroxisomal Membrane Protein PEX162
PBD8A2 5     Peroxisome Biogenesis Factor 162
PBD8B2 5     Peroxin-163
Peroxin 162     

External Ids:    HGNC: 88571   Entrez Gene: 94092   Ensembl: ENSG000001216807   OMIM: 6033605   UniProtKB: Q9Y5Y53   

Export aliases for PEX16 gene to outside databases

Previous GC identifers: GC11M047715 GC11M046620 GC11M045962 GC11M045895 GC11M045887 GC11M045638


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PEX16 Gene:
The protein encoded by this gene is an integral peroxisomal membrane protein. An inactivating nonsense mutation
localized to this gene was observed in a patient with Zellweger syndrome of the complementation group CGD/CG9.
Expression of this gene product morphologically and biochemically restores the formation of new peroxisomes,
suggesting a role in peroxisome organization and biogenesis. Alternative splicing has been observed for this gene
and two variants have been described. (provided by RefSeq, Jul 2008)

GeneCards Summary for PEX16 Gene:
PEX16 (peroxisomal biogenesis factor 16) is a protein-coding gene. Diseases associated with PEX16 include peroxisome biogenesis disorder 8b, and peroxisome biogenesis disorder 8a,. GO annotations related to this gene include protein C-terminus binding.

UniProtKB/Swiss-Prot: PEX16_HUMAN, Q9Y5Y5
Function: Required for peroxisome membrane biogenesis. May play a role in early stages of peroxisome assembly. Can
recruit other peroxisomal proteins, such as PEX3 and PMP34, to de novo peroxisomes derived from the endoplasmic
reticulum (ER). May function as receptor for PEX3

Gene Wiki entry for PEX16 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000011.9  NC_018922.2  NT_009237.19  
Regulatory elements:
   Regulatory transcription factor binding sites in the PEX16 gene promoter:
         AML1a   E47   C/EBPalpha   Gfi-1   CHOP-10   Egr-2   HFH-1   FOXJ2 (long isoform)   c-Myb   FOXJ2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPEX16 promoter sequence
   Search Chromatin IP Primers for PEX16

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PEX16


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

Entrez Gene cytogenetic band: 11p11.2   Ensembl cytogenetic band:  11p11.2   HGNC cytogenetic band: 11p

PEX16 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PEX16 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M045931:  view genomic region     (about GC identifiers)

Start:
45,931,220 bp from pter      End:
45,940,363 bp from pter
Size:
9,144 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: PEX16_HUMAN, Q9Y5Y5 (See protein sequence)
Recommended Name: Peroxisomal membrane protein PEX16  
Size: 336 amino acids; 38629 Da
Subunit: Interacts with PEX19
Secondary accessions: Q9BWB9
Alternative splicing: 2 isoforms:  Q9Y5Y5-1   Q9Y5Y5-2   

Explore the universe of human proteins at neXtProt for PEX16: NX_Q9Y5Y5

Explore proteomics data for PEX16 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See PEX16 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_004804.1  NP_476515.1  

    ENSEMBL proteins: 
     ENSP00000241041   ENSP00000368024   ENSP00000434654   ENSP00000433045   ENSP00000431309  
     ENSP00000431132   ENSP00000434060   ENSP00000432486  

    PEX16 Human Recombinant Protein Products:

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    Novus Biologicals PEX16 Proteins
    Novus Biologicals PEX16 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PEX16

     
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    antibodies-online proteins for PEX16 (4 products) 

     
    antibodies-online peptides for PEX16

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR013919 Pex16

    Graphical View of Domain Structure for InterPro Entry Q9Y5Y5

    ProtoNet protein and cluster: Q9Y5Y5

    UniProtKB/Swiss-Prot: PEX16_HUMAN, Q9Y5Y5
    Similarity: Belongs to the peroxin-16 family


    Find genes that share domains with PEX16           About GenesLikeMe


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

         UniProtKB/Swiss-Prot Summary: PEX16_HUMAN, Q9Y5Y5
    Function: Required for peroxisome membrane biogenesis. May play a role in early stages of peroxisome assembly. Can
    recruit other peroxisomal proteins, such as PEX3 and PMP34, to de novo peroxisomes derived from the endoplasmic
    reticulum (ER). May function as receptor for PEX3

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI12096124
    GO:0008022protein C-terminus binding IPI15713480
         
    Find genes that share ontologies with PEX16           About GenesLikeMe


    Phenotypes:
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Pex16):
     other 

    Find genes that share phenotypes with PEX16           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for PEX16

    miRNA
    Products:
        
    miRTarBase miRNAs that target PEX16:
    hsa-mir-124-3p (MIRT022948)

    Block miRNA regulation of human, mouse, rat PEX16 using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate PEX16:
    hsa-miR-223 hsa-miR-3184 hsa-miR-4328 hsa-miR-423-5p
    SwitchGear 3'UTR luciferase reporter plasmidPEX16 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for PEX16
    Predesigned siRNA for gene silencing in human, mouse, rat PEX16

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    GenScript: all cDNA clones in your preferred vector (see all 2): PEX16 (NM_057174)
    Sino Biological Human cDNA Clone for PEX16
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PEX16
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PEX16

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PEX16

    Flow Cytometry
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    eBioscience FlowRNA Probe Sets ( VA1-12127) for PEX16 


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PEX16_HUMAN, Q9Y5Y5: Peroxisome membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    peroxisome5
    cytosol2
    mitochondrion1
    nucleus1
    plasma membrane1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005777peroxisome IDA15813749
    GO:0005778peroxisomal membrane IDA--
    GO:0005779integral component of peroxisomal membrane IMP9922452
    GO:0005783endoplasmic reticulum IDA19479899
    GO:0005789endoplasmic reticulum membrane IDA16717127

    Find genes that share ontologies with PEX16           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for PEX16 About    
    See pathways by source

    SuperPathContained pathways About
    1Peroxisome
    Peroxisome


    Find genes that share SuperPaths with PEX16           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways




    1 Kegg Pathway  (Kegg details for PEX16):
        Peroxisome

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PEX16
    Interactions:

        GeneGlobe Interaction Network for PEX16

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    3 Interacting proteins for PEX16 (Q9Y5Y51, 2, 3 ENSP000002410414) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PEX19P408551, 2, 3, ENSP000003570514EBI-981985,EBI-594747 MINT-7995810 MINT-15438 MINT-7995612 MINT-7995824 MINT-15439 I2D: score=3 STRING: ENSP00000357051
    PEX3P565893, ENSP000003565634I2D: score=1 STRING: ENSP00000356563
    PEX14ENSP000003490164STRING: ENSP00000349016
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006625protein targeting to peroxisome IMP9837814
    GO:0007031peroxisome organization IMP15813749
    GO:0016557peroxisome membrane biogenesis IMP12223482
    GO:0016558protein import into peroxisome matrix IMP9922452
    GO:0022615protein to membrane docking IDA19114594

    Find genes that share ontologies with PEX16           About GenesLikeMe



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

    Browse Tocris compounds for PEX16



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for PEX16 gene (2 alternative transcripts): 
    NM_004813.2  NM_057174.2  

    Unigene Cluster for PEX16:

    Peroxisomal biogenesis factor 16
    Hs.100915  [show with all ESTs]
    Unigene Representative Sequence: NM_004813
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000241041(uc001nbu.3 uc001nbt.3) ENST00000523721 ENST00000378750
    ENST00000532681 ENST00000533151 ENST00000532554 ENST00000525192 ENST00000527371
    ENST00000525229 ENST00000528674 ENST00000529030
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat PEX16 using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate PEX16:
    hsa-miR-223 hsa-miR-3184 hsa-miR-4328 hsa-miR-423-5p
    SwitchGear 3'UTR luciferase reporter plasmidPEX16 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for PEX16
    Predesigned siRNA for gene silencing in human, mouse, rat PEX16
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    GenScript: all cDNA clones in your preferred vector (see all 2): PEX16 (NM_057174)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PEX16
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PEX16
    Primer
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    OriGene qPCR primer pairs and template standards for PEX16
    OriGene qSTAR qPCR primer pairs in human, mouse for PEX16
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PEX16
      QuantiTect SYBR Green Assays in human, mouse, rat PEX16
      QuantiFast Probe-based Assays in human, mouse, rat PEX16
    Flow Cytometry
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    eBioscience FlowRNA Probe Sets ( VA1-12127) for PEX16 

    Additional mRNA sequence: 

    AB016531.1 AF118240.1 BC000467.2 BC004356.1 

    10 DOTS entries:

    DT.308067  DT.435673  DT.120703248  DT.100813881  DT.120703253  DT.95123709  DT.100813880  DT.95350434 
    DT.97834613  DT.95107118 

    Selected AceView cDNA sequences (see all 129):

    AI393119 C20713 BM708237 CR619814 AI696154 BM746616 CR612893 BU070286 
    BI861537 AW168308 AW860381 BU620858 BG698181 BM832013 BQ681087 AI648579 
    AF118240 BG490835 NM_004813 BG030700 CA428591 BE264047 BQ650134 CA430284 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for PEX16    About this scheme

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


    ECgene alternative splicing isoforms for PEX16

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    PEX16 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GATTACTTGC
    PEX16 Expression
    About this image


    PEX16 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Liver (Hepatobiliary System)
    PEX16 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PEX16 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.100915
        Custom PCR Arrays for PEX16
    Primer
    Products:
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PEX16

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for PEX16 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pex161 , 5 peroxisomal biogenesis factor 161, 5 86.9(n)1
    91.07(a)1
      2 (50.98 cM)5
    186331  NM_145122.21  NP_660104.21 
     923746765 
    chicken
    (Gallus gallus)
    Aves PEX161 peroxisomal biogenesis factor 16 71.69(n)
    74.06(a)
      423201  XM_421125.3  XP_421125.4 
    lizard
    (Anolis carolinensis)
    Reptilia PEX166
    peroxisomal biogenesis factor 16
    68(a)
    1 ↔ 1
    1(47906694-47923776)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.89672 Transcribed sequence with weak similarity to protein more 75.05(n)    142003109 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.165942 Transcribed sequence with weak similarity to protein more 73.43(n)    57051516 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG39473
    Pex161
    peroxisome organization and biogenesis3
    Peroxin 161
    36(a)3
    50.2(n)1
    39.57(a)1
      77E63
    402931  NM_140995.41  NP_649252.11 


    ENSEMBL Gene Tree for PEX16 (if available)
    TreeFam Gene Tree for PEX16 (if available)

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

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      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PEX16 (see all 279)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0692094
    Peroxisome biogenesis disorder 8B (PBD8B)4--see VAR_0692092 P T mis40--------
    VAR_0692104
    Peroxisome biogenesis disorder 8B (PBD8B)4--see VAR_0692102 Y C mis40--------
    rs617521171,2
    Cpathogenic145862773(-) TGGTGC/TGAACC 4 R * stg10--------
    rs1471262141,2
    --45857448(+) GTGAGA/GACCTG 2 -- int10--------
    rs1910085391,2
    --45857466(+) CTCCTC/TAGAGG 2 -- int10--------
    rs1114206501,2
    C,F--45857488(+) AGCAGC/TGTGTC 2 -- int11Minor allele frequency- T:0.50CSA 2
    rs1483061721,2
    C--45857537(+) GAGCC-/CTCTCTG 2 -- int10--------
    rs116001121,2
    C,F,A,H--45857622(+) GAAGAA/CGACCA 2 -- int129Minor allele frequency- C:0.35NS EA NA WA CSA 2282
    rs22803291,2
    C,F,A,H--45857809(-) ACATCG/AGGCAC 2 -- int112Minor allele frequency- A:0.21EA NA WA CSA 1858
    rs729024781,2
    C,F--45857821(+) CTTTTT/CCTAAG 2 -- spd11Minor allele frequency- C:0.10NA 120

    HapMap Linkage Disequilibrium report for PEX16 (45931220 - 45940363 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for PEX16:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv897314CNV Loss21882294
    nsv516442CNV Loss19592680

    Human Gene Mutation Database (HGMD): PEX16
    Locus Specific Mutation Databases (LSDB): PEX16

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PEX16
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 603360   
    OMIM disorders: 614876  614877  
    UniProtKB/Swiss-Prot: PEX16_HUMAN, Q9Y5Y5
  • Peroxisome biogenesis disorder complementation group 9 (PBD-CG9) [MIM:614876]: 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 8A (PBD8A) [MIM:614876]: 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 8B (PBD8B) [MIM:614877]: A relatively mild peroxisome biogenesis disorder.
    Affected individuals manifest lower limb spasticity and ataxia resulting in wheelchair dependence. Other features
    include optic atrophy, cataracts, dysarthria, dysphagia, constipation, and a peripheral demyelinating motor and
    sensory neuropathy. Cognition is relatively preserved. Biochemical abnormalities are mild and include increased
    very-long-chain fatty acids (VLCFA), increased bile acid intermediates, and increased branched chain fatty acids.
    Phytanic acid alpha-oxidation, pristanic acid beta-oxidation, and red cell plasmalogen are normal. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • 7 diseases for PEX16:    
    About MalaCards
    peroxisome biogenesis disorder 8b    peroxisome biogenesis disorder 8a,    peroxisome biogenesis disorders, zellweger syndrome spectrum    hawkinsinuria
    zellweger syndrome    peroxisome biogenesis disorder 2b    zellweger spectrum

    1 disease from the University of Copenhagen DISEASES database for PEX16:
    Zellweger syndrome

    Find genes that share disorders with PEX16           About GenesLikeMe

    1 Novoseek inferred disease relationship for PEX16 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    zellweger syndrome 88.6 3 9837814 (1), 11890679 (1), 14680974 (1)

    GeneTests: PEX16
    GeneReviews: PEX16

    Export disorders for PEX16 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for PEX16 gene, integrated from 10 sources (see all 28):
    (articles sorted by number of sources associating them with PEX16)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Peroxisome synthesis in the absence of preexisting peroxisomes. (PubMed id 9922452)1, 2, 3 South S.T. and Gould S.J. (J. Cell Biol. 1999)
    2. Mutation in PEX16 is causal in the peroxisome-deficient Zellweger syndrome of complementation group D. (PubMed id 9837814)1, 2, 9 Honsho M.... Fujiki Y. (Am. J. Hum. Genet. 1998)
    3. Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene. (PubMed id 20647552)1, 2 Ebberink M.S....Ferdinandusse S. (J. Med. Genet. 2010)
    4. The origin and maintenance of mammalian peroxisomes involves a de novo PEX16-dependent pathway from the ER. (PubMed id 16717127)1, 2 Kim P.K.... Lippincott-Schwartz J. (J. Cell Biol. 2006)
    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. (Genome Res. 2004)
    6. PEX19 is a predominantly cytosolic chaperone and import receptor for class 1 peroxisomal membrane proteins. (PubMed id 14709540)1, 2 Jones J.M.... Gould S.J. (J. Cell Biol. 2004)
    7. The membrane biogenesis peroxin Pex16p. Topogenesis and functional roles in peroxisomal membrane assembly. (PubMed id 12223482)1, 2 Honsho M.... Fujiki Y. (J. Biol. Chem. 2002)
    8. 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. (Mol. Cell. Biol. 2001)
    9. 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. (J. Cell Biol. 2000)
    10. A novel aberrant splicing mutation of the PEX16 gene in two patients with Zellweger syndrome. (PubMed id 11890679)1, 9 Shimozawa N....Kondo N. (Biochem. Biophys. Res. Commun. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 9409 HGNC: 8857 AceView: PEX16 Ensembl:ENSG00000121680 euGenes: HUgn9409
    ECgene: PEX16 Kegg: 9409 H-InvDB: PEX16

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for PEX16 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=PEX16[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PEX16 gene:
    Search GeneIP for patents involving PEX16

    GeneCards and IP:
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