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NUP62 Gene

protein-coding   GIFtS: 63
GCID: GC19M050410

Nucleoporin 62kDa

(Previous name: nucleoporin 62kD)
  See NUP62-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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This gene clusters with an RNA gene
Subcategory (RNA class): antisense

Quality score for the ORGUL clustered with this gene is 3

Aliases
Nucleoporin 62kDa1 2     IBSN2 5
Nuclear Pore Glycoprotein P621 2     SNDI2 5
Nucleoporin Nup622 3     Nucleoporin 62kD1
62 KDa Nucleoporin2 3     p622

External Ids:    HGNC: 80661   Entrez Gene: 236362   Ensembl: ENSG000002130247   OMIM: 6058155   UniProtKB: P371983   
ORGUL members:         

Export aliases for NUP62 gene to outside databases

Previous GC identifers: GC19M051068 GC19M050742 GC19M055086 GC19M055066 GC19M055087 GC19M055072 GC19M055102 GC19M055093 GC19M055095 GC19M055097 GC19M055103 GC19M055104 GC19M055105 GC19M055107 GC19M055109 GC19M046786


(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 NUP62 Gene:
The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that
regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components
of the nuclear pore complex in eukaryotic cells. The protein encoded by this gene is a member of the FG-repeat
containing nucleoporins and is localized to the nuclear pore central plug. This protein associates with the
importin alpha/beta complex which is involved in the import of proteins containing nuclear localization signals.
Multiple transcript variants of this gene encode a single protein isoform. (provided by RefSeq, Jul 2008)

GeneCards Summary for NUP62 Gene:
NUP62 (nucleoporin 62kDa) is a protein-coding gene. Diseases associated with NUP62 include striatonigral degeneration infantile, and striatonigral degeneration. GO annotations related to this gene include chromatin binding and SH2 domain binding. An important paralog of this gene is NUP62CL.

UniProtKB/Swiss-Prot: NUP62_HUMAN, P37198
Function: Essential component of the nuclear pore complex. The N-terminal is probably involved in
nucleocytoplasmic transport. The C-terminal is probably involved in protein-protein interaction via coiled-coil
formation and may function in anchorage of p62 to the pore complex

Gene Wiki entry for NUP62 (Nucleoporin 62) 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_000019.9  NC_018930.2  NT_011109.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the NUP62 gene promoter:
         SRF   Spz1   ISGF-3   AP-1   SRF (504 AA)   p300   MyoD   HNF-4alpha1   MZF-1   Pax-4a   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for NUP62

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NUP62


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

Entrez Gene cytogenetic band: 19q13.33   Ensembl cytogenetic band:  19q13.33   HGNC cytogenetic band: 19q13.33

NUP62 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NUP62 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M050410:  view genomic region     (about GC identifiers)

Start:
50,410,082 bp from pter      End:
50,433,020 bp from pter
Size:
22,939 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: NUP62_HUMAN, P37198 (See protein sequence)
Recommended Name: Nuclear pore glycoprotein p62  
Size: 522 amino acids; 53255 Da
Subunit: Component of the p62 complex, a complex at least composed of NUP62, NUP54, and NUPL1 (By similarity).
Interacts with C11orf73/Hikeshi
1 PDB 3D structure from and Proteopedia for NUP62:
2H4D (3D)    
Secondary accessions: B3KWU5 Q503A4 Q6GTM2 Q96C43 Q9NSL1

Explore the universe of human proteins at neXtProt for NUP62: NX_P37198

Explore proteomics data for NUP62 at MOPED

Post-translational modifications: 

  • O-glycosylated. Contains about 10 N-acetylglucosamine side chain sites predicted for the entire protein, amongst
    which only one in the C-terminal1
  • The the inner channel of the NPC has a different redox environment from the cytoplasm and allows the formation of
    interchain disulfide bonds between some nucleoporins, the significant increase of these linkages upon oxidative
    stress reduces the permeability of the NPC (By similarity)1
  • Ubiquitination2 at Lys371, Lys435
  • Glycosylation2 at Thr373, Ser468
  • Modification sites at PhosphoSitePlus

  • See NUP62 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_001180286.1  NP_036478.2  NP_057637.2  NP_714940.1  NP_714941.1  

    ENSEMBL proteins: 
     ENSP00000407331   ENSP00000305503   ENSP00000473192   ENSP00000469283   ENSP00000471191  
     ENSP00000472918   ENSP00000468930   ENSP00000472081   ENSP00000470624   ENSP00000468842  
     ENSP00000470157   ENSP00000468884   ENSP00000468839   ENSP00000471133   ENSP00000387991  
    Reactome Protein details: P37198

    NUP62 Human Recombinant Protein Products:

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    ProSpec Recombinant Protein for NUP62
    Cloud-Clone Corp. Proteins for NUP62

     
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    antibodies-online proteins for NUP62 (7 products) 

     
    antibodies-online peptides for NUP62

    NUP62 Antibody Products:

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    antibodies-online antibodies for NUP62 (31 products) 

    NUP62 Assay Products:

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    Cloud-Clone Corp. ELISAs for NUP62
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    antibodies-online kits for NUP62 (13 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR026010 NSP1/NUP62
     IPR007758 Nucleoporin_NSP1_C

    Graphical View of Domain Structure for InterPro Entry P37198

    ProtoNet protein and cluster: P37198

    1 Blocks protein domain: IPB007758 Nsp1-like

    UniProtKB/Swiss-Prot: NUP62_HUMAN, P37198
    Domain: Contains F-X-F-G repeats
    Similarity: Belongs to the nucleoporin NSP1/NUP62 family


    Find genes that share domains with NUP62           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: NUP62_HUMAN, P37198
    Function: Essential component of the nuclear pore complex. The N-terminal is probably involved in
    nucleocytoplasmic transport. The C-terminal is probably involved in protein-protein interaction via coiled-coil
    formation and may function in anchorage of p62 to the pore complex

         Genatlas biochemistry entry for NUP62:
    nucleoporin p62,component of the nuclear pore complex,yeast NSP1 homolog

         Gene Ontology (GO): Selected molecular function terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003682chromatin binding NAS11852044
    GO:0005487contributes to nucleocytoplasmic transporter activity NAS8589458
    GO:0005515protein binding IPI10356400
    GO:0017056structural constituent of nuclear pore IEA--
    GO:0030159receptor signaling complex scaffold activity ISS--
         
    Find genes that share ontologies with NUP62           About GenesLikeMe


    Phenotypes:
         6 GenomeRNAi human phenotypes for NUP62:
     Decreased Wnt reporter activit  Decreased cell number and incr  Downregulation of NF-kappaB pa  Downregulation of NF-kappaB pa 
     Increased gamma-H2AX phosphory  Nucleoplasmic pre-40S maturati 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for NUP62

    miRNA
    Products:
        
    miRTarBase miRNAs that target NUP62:
    hsa-mir-125a-3p (MIRT038643), hsa-mir-155-5p (MIRT021011), hsa-mir-34a-5p (MIRT025574), hsa-mir-186-5p (MIRT021129), hsa-mir-93-3p (MIRT038819), hsa-mir-1224-5p (MIRT036552), hsa-mir-1914-5p (MIRT035782), hsa-mir-615-3p (MIRT040077)

    Block miRNA regulation of human, mouse, rat NUP62 using miScript Target Protectors
    5 qRT-PCR Assays for microRNAs that regulate NUP62:
    hsa-miR-4254 hsa-miR-205* hsa-miR-3919 hsa-miR-765 hsa-miR-1293
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Sino Biological Human cDNA Clone for NUP62
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    Addgene plasmids for NUP62 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NUP62


    (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
    NUP62_HUMAN, P37198: Nucleus, nuclear pore complex. Cytoplasm, cytoskeleton, spindle pole. Note=Central region of
    the nuclear pore, within the transporter. During mitotic cell division, it associates with the poles of the
    mitotic spindle
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    nucleus5
    cytosol3

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000922spindle pole IEA--
    GO:0005635nuclear envelope TAS--
    GO:0005643nuclear pore ISS--
    GO:0005737cytoplasm NAS10373430
    GO:0030529ribonucleoprotein complex IDA18809582

    Find genes that share ontologies with NUP62           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 NUP62 About   (see all 14)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Regulation of Glucokinase by Glucokinase Regulatory Protein
    Transport of the SLBP Dependant Mature mRNA0.92
    Export of Viral Ribonucleoproteins from Nucleus0.88
    Transport of Mature mRNAs Derived from Intronless Transcripts0.92
    Transport of Ribonucleoproteins into the Host Nucleus0.88
    Transport of the SLBP independent Mature mRNA0.91
    Regulation of Glucokinase by Glucokinase Regulatory Protein0.87
    Nuclear import of Rev protein0.91
    Glucose transport0.87
    2HIV Life Cycle
    HIV Life Cycle0.91
    HIV Infection0.62
    Late Phase of HIV Life Cycle0.91
    Host Interactions of HIV factors0.60
    3Interferon Signaling
    Interferon Signaling0.59
    ISG15 antiviral mechanism0.42
    Cytokine Signaling in Immune system0.59
    Antiviral mechanism by IFN-stimulated genes0.42
    4Cell Cycle, Mitotic
    Cell Cycle, Mitotic0.90
    M Phase0.62
    Cell Cycle0.90
    5Transport of Mature Transcript to Cytoplasm
    Transport of Mature Transcript to Cytoplasm0.93
    Transport of Mature mRNA derived from an Intron-Containing Transcript0.93


    Find genes that share SuperPaths with NUP62           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    Selected Reactome Pathways for NUP62 (see all 6)
        Rev-mediated nuclear export of HIV RNA
    Regulation of Glucokinase by Glucokinase Regulatory Protein
    Nuclear import of Rev protein
    Nuclear Pore Complex (NPC) Disassembly
    Vpr-mediated nuclear import of PICs


    1 Kegg Pathway  (Kegg details for NUP62):
        RNA transport

        Pathway & Disease-focused RT2 Profiler PCR Array including NUP62: 
              EGF / PDGF Signaling Pathway in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for NUP62

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

    Selected Interacting proteins for NUP62 (P371981, 2, 3 ENSP000003055034) via UniProtKB, MINT, STRING, and/or I2D (see all 159)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000225987P404252, 3, ENSP000004039484MINT-62570 MINT-62668 MINT-62744 I2D: score=4 STRING: ENSP00000403948
    ENSG00000237344P404252, 3, ENSP000003971774MINT-62570 MINT-62668 MINT-62744 I2D: score=4 STRING: ENSP00000397177
    PBX2P404252, 3, ENSP000003641904MINT-62570 MINT-62668 MINT-62744 I2D: score=4 STRING: ENSP00000364190
    ENSG00000206315P404252, 3MINT-62570 MINT-62668 MINT-62744 I2D: score=4 
    ENSG00000224952P404252, 3MINT-62570 MINT-62668 MINT-62744 I2D: score=4 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 29):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000278mitotic cell cycle TAS--
    GO:0005975carbohydrate metabolic process TAS--
    GO:0006351transcription, DNA-templated ISS--
    GO:0006913nucleocytoplasmic transport NAS8589458
    GO:0007077mitotic nuclear envelope disassembly TAS--

    Find genes that share ontologies with NUP62           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 NUP62

    1 Novoseek inferred chemical compound relationship for NUP62 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    zinc 7.39 4 10781837 (1)



    Find genes that share compounds with NUP62           About GenesLikeMe



    (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 NUP62 gene (5 alternative transcripts): 
    NM_001193357.1  NM_012346.4  NM_016553.4  NM_153718.3  NM_153719.3  

    Unigene Cluster for NUP62:

    Nucleoporin 62kDa
    Hs.574492  [show with all ESTs]
    Unigene Representative Sequence: NM_016553
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 24):
    ENST00000422090(uc002pqz.3) ENST00000352066(uc002pqy.3 uc002pra.3 uc002prc.3)
    ENST00000597029 ENST00000597723 ENST00000596217 ENST00000595463 ENST00000593652
    ENST00000595761 ENST00000599567 ENST00000600645 ENST00000596437 ENST00000600583
    ENST00000594673 ENST00000599788 ENST00000600935 ENST00000596680 ENST00000601665
    ENST00000599560
    miRNA
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    hsa-miR-4254 hsa-miR-205* hsa-miR-3919 hsa-miR-765 hsa-miR-1293
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      QuantiTect SYBR Green Assays in human, mouse, rat NUP62
      QuantiFast Probe-based Assays in human, mouse, rat NUP62

    Additional mRNA sequence: 

    AF318357.1 AK000829.1 AK225817.1 AL162061.1 BC003663.2 BC014842.1 BC050717.2 BC095410.1 
    BC101104.1 BC101105.1 BC101106.1 BC101107.1 CR541721.1 X58521.1 

    Selected DOTS entries (see all 40):

    DT.86821331  DT.95368307  DT.100038358  DT.92463467  DT.121429387  DT.101984135  DT.100785220  DT.100797093 
    DT.121429329  DT.121429458  DT.121429466  DT.121429341  DT.100797087  DT.121429425  DT.121429339  DT.121429510 
    DT.121429452  DT.92463445  DT.92349501  DT.92463488  DT.95073938  DT.98132082  DT.99930672  DT.121429561 

    Selected AceView cDNA sequences (see all 756):

    BQ278174 BG748660 CD368571 BQ673204 AI348294 AI362743 AI890779 BQ677029 
    AW473742 CA867572 AW337245 CR592016 AA577237 NM_153719 AF293462 CR619923 
    BQ898301 AU117507 BX389808 AU141686 BU535513 BI091794 BP428912 AW044131 

    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™, 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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    NUP62 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGCAGAGACC
    NUP62 Expression
    About this image

    NUP62 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NUP62 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.574492
        Pathway & Disease-focused RT2 Profiler PCR Array including NUP62: 
              EGF / PDGF Signaling Pathway in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NUP62

    (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

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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for NUP62 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nup621 , 5 nucleoporin 621, 5 78.72(n)1
    79.88(a)1
      7 (28.93 cM)5
    182261  NM_053074.11  NP_444304.11 
     448160885 
    chicken
    (Gallus gallus)
    Aves NUP621 nucleoporin 62kDa 64.63(n)
    63.19(a)
      422183  XM_420179.4  XP_420179.4 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    56(a)
    1 → many
    GL343376.1(1065644-1074319)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC3949341 uncharacterized LOC394934 58.35(n)
    60.33(a)
      394934  NM_001001989.1  NP_001001989.1 
    zebrafish
    (Danio rerio)
    Actinopterygii nup62l6
    nucleoporin 62 like
    50(a)
    1 → many
    14(10823540-10854840) ENSDARG00000020527
    fruit fly
    (Drosophila melanogaster)
    Insecta CG62513   -- 46(a)     --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes NSP1(YJL041W)4 Essential component of the nuclear pore complex, which more   --   10(365784-368373) 853409  NP_012494.1 


    ENSEMBL Gene Tree for NUP62 (if available)
    TreeFam Gene Tree for NUP62 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NUP62 gene
    NUP62CL2  
    2 SIMAP similar genes for NUP62 using alignment to 11 protein entries:     NUP62_HUMAN (see all proteins):
    pp7052    NUP62CL

    Find genes that share paralogs with NUP62           About GenesLikeMe



    (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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    4 SNPs for NUP62    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0349044
    Infantile striatonigral degeneration (SNDI)4--see VAR_0349042 Q P mis40--------
    rs22907721,2,4
    ----see VAR_0134672 mis40--------
    rs37454891,2,4
    ----see VAR_0280642 mis40--------
    rs10627981,2,4
    ----see VAR_0280652 mis40--------

    HapMap Linkage Disequilibrium report for NUP62 (50410082 - 50433020 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for NUP62:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv996372CNV Deletion20482838
    nsv912269CNV Loss21882294
    dgv53n68CNV Loss17160897
    dgv54n68CNV Loss17160897
    nsv458720CNV Gain19166990
    nsv9739CNV Gain+Loss18304495
    nsv7309OTHER Inversion18451855

    Human Gene Mutation Database (HGMD): NUP62
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NUP62
    DNA2.0 Custom Variant and Variant Library Synthesis for NUP62

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605815   
    OMIM disorders: 271930  
    UniProtKB/Swiss-Prot: NUP62_HUMAN, P37198
  • Infantile striatonigral degeneration (SNDI) [MIM:271930]: Neurological disorder characterized by
    symmetrical degeneration of the caudate nucleus, putamen, and occasionally the globus pallidus, with little
    involvement of the rest of the brain. The clinical features include developmental regression, choreoathetosis,
    dystonia, spasticity, dysphagia, failure to thrive, nystagmus, optic atrophy, and mental retardation. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • 3 diseases for NUP62:    
    About MalaCards
    striatonigral degeneration infantile    striatonigral degeneration    parotid gland cancer

    2 diseases from the University of Copenhagen DISEASES database for NUP62:
    Parotid gland cancer     Striatonigral degeneration

    Find genes that share disorders with NUP62           About GenesLikeMe

    Genetic Association Database (GAD): NUP62

    Export disorders for NUP62 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 NUP62 gene, integrated from 10 sources (see all 114):
    (articles sorted by number of sources associating them with NUP62)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human nucleoporin p62 and the essential yeast nuclear pore protein NSP1 show sequence homology and a similar domain organization. (PubMed id 1915414)1, 2, 3, 9 Carmo-Fonseca M.... Hurt E.C. (Eur. J. Cell Biol. 1991)
    2. Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis. (PubMed id 16786527)1, 2, 9 Basel-Vanagaite L.... Shohat M. (Ann. Neurol. 2006)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    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. (Genome Res. 2004)
    5. TRAF-3 interacts with p62 nucleoporin, a component of the nuclear pore central plug that binds classical NLS-containing import complexes. (PubMed id 10781837)1, 9 Gamper C....Lederman S. (Mol. Immunol. 2000)
    6. Oxidative stress inhibits nuclear protein export by multiple mechanisms that target FG nucleoporins and Crm1. (PubMed id 19828735)1, 9 Crampton N....Stochaj U. (Mol. Biol. Cell 2009)
    7. Nuclear import of the MUC1-C oncoprotein is mediated by nucleoporin Nup62. (PubMed id 17500061)1, 9 Leng Y....Kufe D. (J. Biol. Chem. 2007)
    8. Molecular interactions between the importin alpha/beta heterodimer and proteins involved in vertebrate nuclear protein import. (PubMed id 9102465)1, 9 Percipalle P....Stewart M. (J. Mol. Biol. 1997)
    9. The trimerization domain of human heat shock factor 2 is able to interact with nucleoporin p62. (PubMed id 9367915)1, 9 Yoshima T....Yanagi H. (Biochem. Biophys. Res. Commun. 1997)
    10. Characterization of the antibodies to p62 nucleoporin in primary biliary cirrhosis using human recombinant antigen. (PubMed id 17960595)1, 9 Wesierska-Gadek J....Penner E. (J. Cell. Biochem. 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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)
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    Entrez Gene: 23636 HGNC: 8066 AceView: NUP62 Ensembl:ENSG00000213024 euGenes: HUgn23636
    ECgene: NUP62 Kegg: 23636 H-InvDB: NUP62

    (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 NUP62 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for NUP62 gene:
    Search GeneIP for patents involving NUP62

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



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