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

NUP62 Gene

protein-coding   GIFtS: 61
GCID: GC19M050410

nucleoporin 62kDa

(Previous name: nucleoporin 62kD )
 Explore 18 diseases affiliated with
NUP62 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for NUP62    

Aliases
for NUP62 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Nucleoporin 62kDa1 2     DKFZp547L1341
IBSN1 2 5     FLJ208221
SNDI1 2 5     FLJ438691
P621     MGC8411
Nucleoporin Nup622 3     Nucleoporin 62kD1
62 KDa Nucleoporin2 3     Nuclear Pore Glycoprotein P622

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

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


Summaries
for NUP62 gene

(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 NUP62:
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)

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)


Genomic Views
for NUP62 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.1  NT_011109.16  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for NUP62

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 chromosome: 19

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:
 50,432,988 bp from pter
Size:
 22,907 bases      Orientation:
 minus strand

Proteins
for NUP62 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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
Subcellular location: 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
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

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
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P37198

    • NUP62 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000305503   ENSP00000407331   ENSP00000387991  
    Reactome Protein details: P37198
    Human Recombinant Protein Products: 
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    Novus Biologicals NUP62 Proteins
    Novus Biologicals NUP62 Lysates
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    ProSpec Recombinant Protein for NUP62
    Uscn Proteins for NUP62

    Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (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


    NUP62 for ontologies           About GeneDecksing



    NUP62 Antibody Products: 
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    Uscn ELISAs and CLIAs for NUP62

    Protein Domains /
    Families
    for NUP62 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    NUP62 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR026010 NSP1/NUP62
     IPR007758 Nucleoporin_NSP1_C

    Graphical View of Domain Structure for InterPro Entry P37198

    ProtoNet protein and cluster: P37198

    1 Blocks protein family: IPB007758 Nsp1-like

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


    Function
    for NUP62 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

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

    miRNA
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    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NUP62
    5 QIAGEN miScript miRNA 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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    Gene Editing
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    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for NUP62 (see all 7)
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    GenScript: all cDNA clones in your preferred vector (see all 5): NUP62 (NM_153718)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NUP62 

    Cell Line
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    Search LifeMap BioReagents cell lines for NUP62

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

    Gene Ontology (GO): 5/9 molecular function terms (GO ID links to tree view) (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 IPI--
    GO:0017056structural constituent of nuclear pore IEA--
    GO:0030159receptor signaling complex scaffold activity ISS--


    NUP62 for ontologies           About GeneDecksing


    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 


    Pathways & Interactions
    for NUP62 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/10 super-pathways (see all 10) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Translocation of Influenza A virus nonstructural protein 1 (NS1A) into the nucleus
    8/11 pathways (see all 11)
    		Translocation of Influenza A virus nonstructural protein 1 (NS1A) into the nucleus1.00
    		Interactions of Vpr with host cellular proteins0.70
    		Nuclear import of Rev protein0.76
    		Glucose transport0.57
    		Vpr-mediated nuclear import of PICs0.76
    		Hexose transport0.55
    		Regulation of Glucokinase by Glucokinase Regulatory Protein0.75
    		ISG15 antiviral mechanism0.49
    2Cytokine Signaling in Immune system
    		Cytokine Signaling in Immune system1.00
    		Interferon Signaling0.61
    3HIV Infection
    		HIV Infection1.00
    		Host Interactions of HIV factors0.64
    4SLC-mediated transmembrane transport
    		SLC-mediated transmembrane transport1.00
    		Transmembrane transport of small molecules0.50
    5Late Phase of HIV Life Cycle
    		Late Phase of HIV Life Cycle1.00
    		HIV Life Cycle0.90

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    5/23        Reactome Pathways for NUP62 (see all 23)
        Antiviral mechanism by IFN-stimulated genes
    Late Phase of HIV Life Cycle
    Metabolism
    Interactions of Rev with host cellular proteins
    Disease


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


    NUP62 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for NUP62

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

    5/114 Interacting proteins for NUP62 (P371981, 2, 3 ENSP000003055034) via UniProtKB, MINT, STRING, and/or I2D (see all 114)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PBX2P404252, 3, ENSP000003641904MINT-62570 MINT-62668 MINT-62744 I2D: score=4 STRING: ENSP00000364190
    AHCTF1Q8WYP52, 3, ENSP000003757054MINT-4301750 MINT-4301693 I2D: score=1 STRING: ENSP00000375705
    NUP54Q7Z3B42, 3, ENSP000002648834MINT-66139 I2D: score=6 STRING: ENSP00000264883
    THAP1Q9NVV92, 3, ENSP000002542504MINT-67933 I2D: score=6 STRING: ENSP00000254250
    IKQ131232, 3, ENSP000003963014MINT-64593 I2D: score=5 STRING: ENSP00000396301
    About this table

    Gene Ontology (GO): 5/27 biological process terms (GO ID links to tree view) (see all 27):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0006351transcription, DNA-dependent ISS--
    GO:0006913nucleocytoplasmic transport NAS8589458
    GO:0007166cell surface receptor signaling pathway NAS10373430
    GO:0007569cell aging ----


    NUP62 for ontologies           About GeneDecksing



    Drugs & Compounds
    for NUP62 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    NUP62 for compounds           About GeneDecksing

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

    Browse Tocris compounds for NUP62
    1 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about NUP62 

    Transcripts
    for NUP62 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000352066(uc002pqy.3 uc002pra.3 uc002prc.3) ENST00000422090(uc002pqz.3)
    ENST00000413454(uc002prb.3 uc002pqx.3)

    miRNA
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    5 QIAGEN miScript miRNA 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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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for NUP62 (see all 7)
    OriGene shRNA RFP: NUP62
    OriGene siRNA: NUP62
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NUP62
    Clone
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    Primer
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    Additional cDNA 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 

    24/42 DOTS entries (see all 42):

    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 

    24/756 AceView cDNA sequences (see all 756):

    BC050717 BE792302 BU556816 BQ073367 AA620777 BQ883136 BE266385 NM_172374 
    AA993155 BU159475 CA867288 BM562379 BQ773973 CR625444 BM665309 BQ879836 
    AI932615 AI278991 BF796391 AI306584 BC015562 BQ778281 CB528326 AW467937 

    GeneLoc Exon Structure


    Expression
    for NUP62 gene

    (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

    NUP62 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GGCAGAGACC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See NUP62 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NUP62

    SOURCE GeneReport for Unigene cluster: Hs.574492
        SABiosciences Expression via Pathway-Focused 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
    for NUP62 gene

    (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 NUP62 gene from 8/25 species (see all 25)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Nup621 , 5 nucleoporin 621, 5 79.24(n)1
    81.24(a)1    		   7 (28.93 cM)5
    182261  NM_053074.11  NP_444304.11 
     448160885 
    chicken
    (Gallus gallus)    		 Aves NUP621 nucleoporin 62kDa 68.76(n)
    70.24(a)    		   422183  XM_420179.3  XP_420179.3 
    lizard
    (Anolis carolinensis)    		 Reptilia NUP626
    --
    		 --
    		 51(a)
    10(a)
    		 1 ↔ 1
    possible ortholog
    		 GL343376.1(1066403-1073091)
    AAWZ02041538(658-5491)
    zebrafish
    (Danio rerio)    		 Actinopterygii nup62l1 nucleoporin 62 like 58.11(n)
    59.08(a)    		   563392  NM_001113596.1  NP_001107068.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG62513
    Nup621    		 Nucleoporin 621 46(a)3
    52.46(n)1
    41.53(a)1    		   368301  NM_137276.21  NP_611120.11 
    worm
    (Caenorhabditis elegans)    		 Secernentea npp-116
    npp-106
    		 Nuclear Pore complex Protein family member (npp-11...
    Nuclear Pore complex Protein family member (npp-10...
    		 9(a)
    3(a)
    		 possible ortholog
    possible ortholog
    		 I(3817999-3821506)
    III(6013446-6019503)
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons EMB27666
    		 structural constituent of nuclear pore
    		 11(a)
    		 1 → many
    		 2(18564111-18567735)
    rice
    (Oryza sativa)    		 Liliopsida --
    		 nsp1-like C-terminal region family protein, expres...
    		 20(a)
    		 1 → many
    		 1(37004703-37010313)


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

    Paralogs
    for NUP62 gene

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

    NUP62 for paralogs           About GeneDecksing



    Genomic Variants
    for NUP62 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/439 NCBI SNPs in NUP62 are shown (see all 439)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 19 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1219178651,2
    		Cpathogenic47174514(-) GGACCA/CGGAGC 4 -- int10--------
    rs775500991,2
    		C,--46785983(+) AGTTTT/ATATAG 4 -- int12Minor allele frequency- A:0.09WA 120
    rs799336121,2
    		--46786235(+) CATTTG/TTCTAT 4 -- int11Minor allele frequency- T:0.01EA 120
    rs801668721,2
    		--46786290(+) TGTCTA/TTGCAA 4 -- int12Minor allele frequency- T:0.09CSA WA 120
    rs786848721,2
    		--46786408(+) ATTAAC/GAGCAG 4 -- int13Minor allele frequency- G:0.04CSA WA EA 240
    rs749618461,2
    		C,--46786421(+) GTTTTG/TGTTTC 4 -- int10--------
    rs285869651,2
    		--46786489(+) AAAGTA/GTAAAG 4 -- int10--------
    rs1150306481,2
    		C,F,--46786524(+) ACAACC/TGCTAG 4 -- int11Minor allele frequency- T:0.06WA 118
    rs1141649621,2
    		C,F,--46786586(+) TGGTGC/ACACTA 4 -- int11Minor allele frequency- A:0.02WA 118
    rs621262891,2
    		C,--46786608(+) AAGTCT/CACGGC 4 -- int12Minor allele frequency- C:0.04NA 122

    HapMap Linkage Disequilibrium report for NUP62 (50410082 - 50432988 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 4 variations for NUP62
         2 CNVs: 5114 32261
         2 Inversions: 37207 37208
    Human Gene Mutation Database (HGMD): NUP62

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    Disorders / Diseases
    for NUP62 gene

    (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.)
    About This Section
    NUP62 for disorders           About GeneDecksing

    OMIM gene information: 605815   
    OMIM disorders: 271930  
    UniProtKB/Swiss-Prot: NUP62_HUMAN, P37198
  • Defects in NUP62 are the cause of infantile striatonigral degeneration (SNDI) [MIM:271930]; also known as
    • infantile bilateral striatal necrosis (IBSN) or familial striatal degeneration. SNDI is a 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

    18 diseases for NUP62:    About MalaCards
    striatonigral degeneration infantile    exanthema subitum    striatonigral degeneration    triple-a syndrome
    striatal degeneration    primary biliary cirrhosis    choreoathetosis    optic atrophy
    macular degeneration    nystagmus    myelodysplastic syndrome    myeloid leukemia
    spasticity    ataxia    leukemia    thyroiditis
    hepatitis    neuronitis

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

    Export disorders for NUP62 gene to outside databases

    Publications
    for NUP62 gene

    (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 NUP62 gene, integrated from 9 sources (see all 105):
    (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. (1991)
    2. Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis. (PubMed id 16786527)1, 2, 9 Basel-Vanagaite L.... Shohat M. (2006)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (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. (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. (2000)
    6. Oxidative stress inhibits nuclear protein export by m ultiple mechanisms that target FG nucleoporins and Crm1. (PubMed id 19828735)1, 9 Crampton N....Stochaj U. (2009)
    7. 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. (1997)
    8. 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. (1997)
    9. 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. (2008)
    10. The N-terminal domain of the mammalian nucleoporin p62 interacts with other nucleoporins of the FXFG family during interphase. (PubMed id 16730000)1, 9 Stochaj U....Matusiewicz N. (2006)

    External Searches for NUP62 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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    Genome Databases showing NUP62 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 23636 HGNC: 8066 AceView: NUP62 Ensembl:ENSG00000213024 euGenes: HUgn23636
    ECgene: NUP62 Kegg: 23636 H-InvDB: NUP62

    Other Databases showing NUP62 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing NUP62 gene

    (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 NUP62 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for NUP62 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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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