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

KPNA2 Gene

protein-coding   GIFtS: 69
GCID: GC17P066031

Karyopherin Alpha 2 (RAG Cohort 1, Importin Alpha 1)


(Previous symbol: RCH1)
Microbiology & Infectious Diseases Congress
  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
Karyopherin Alpha 2 (RAG Cohort 1, Importin Alpha 1)1 2     Importin Alpha 12
RCH11 2 3 5     Importin Alpha 22
Karyopherin Subunit Alpha-22 3     Importin Subunit Alpha-12
SRP1-alpha2 3     Importin Subunit Alpha-22
RAG Cohort Protein 12 3     importin-alpha-P12
QIP22 5     pendulin2
IPOA12     RAG Cohort 12
SRP1alpha2     SRP13

External Ids:    HGNC: 63951   Entrez Gene: 38382   Ensembl: ENSG000001824817   OMIM: 6006855   UniProtKB: P522923   

Export aliases for KPNA2 gene to outside databases

Previous GC identifers: GC17U990047 GC17P066449 GC17P066581 GC17M9N0103 GC17P063463 GC17P061416


(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 KPNA2 Gene:
The import of proteins into the nucleus is a process that involves at least 2 steps. The first is an
energy-independent docking of the protein to the nuclear envelope and the second is an energy-dependent
translocation through the nuclear pore complex. Imported proteins require a nuclear localization sequence (NLS)
which generally consists of a short region of basic amino acids or 2 such regions spaced about 10 amino acids
apart. Proteins involved in the first step of nuclear import have been identified in different systems. These
include the Xenopus protein importin and its yeast homolog, SRP1 (a suppressor of certain temperature-sensitive
mutations of RNA polymerase I in Saccharomyces cerevisiae), which bind to the NLS. KPNA2 protein interacts with
the NLSs of DNA helicase Q1 and SV40 T antigen and may be involved in the nuclear transport of proteins. KPNA2
also may play a role in V(D)J recombination (provided by RefSeq, Jul 2008)

GeneCards Summary for KPNA2 Gene: 
KPNA2 (karyopherin alpha 2 (RAG cohort 1, importin alpha 1)) is a protein-coding gene. Diseases associated with KPNA2 include borna disease, and nijmegen breakage syndrome, and among its related super-pathways are Interferon Signaling and Cell cycle Spindle assembly and chromosome separation. GO annotations related to this gene include protein transporter activity and nuclear localization sequence binding. An important paralog of this gene is KPNA7.

UniProtKB/Swiss-Prot: IMA1_HUMAN, P52292
Function: Functions in nuclear protein import as an adapter protein for nuclear receptor KPNB1. Binds specifically
and directly to substrates containing either a simple or bipartite NLS motif. Docking of the importin/substrate
complex to the nuclear pore complex (NPC) is mediated by KPNB1 through binding to nucleoporin FxFG repeats and
the complex is subsequently translocated through the pore by an energy requiring, Ran-dependent mechanism. At the
nucleoplasmic side of the NPC, Ran binds to importin-beta and the three components separate and importin-alpha
and -beta are re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran from importin. The
directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and
GDP-bound forms of Ran between the cytoplasm and nucleus

Gene Wiki entry for KPNA2 (Karyopherin alpha 2) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NT_010783.15  NC_018928.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KPNA2 gene promoter:
         SRF   HOXA9B   HOXA9   AML1a   Evi-1   STAT3   Meis-1a   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): KPNA2 promoter sequence
   Search SABiosciences Chromatin IP Primers for KPNA2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KPNA2


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

Entrez Gene cytogenetic band: 17q24.2   Ensembl cytogenetic band:  17q24.2   HGNC cytogenetic band: 17q24.2

KPNA2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KPNA2 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P066031:  view genomic region     (about GC identifiers)

Start:
66,031,635 bp from pter      End:
66,042,970 bp from pter
Size:
11,336 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: IMA1_HUMAN, P52292 (See protein sequence)
Recommended Name: Importin subunit alpha-1  
Size: 529 amino acids; 57862 Da
Subunit: Heterodimer; with KPNB1. Interacts with ANP32E (By similarity). Component of a complex containing CSE1L,
RAN and KPNA2. Interacts directly with CSE1L. Interacts with HIV-1 Vpr and PLAG1. Interacts with APEX1 (via
N-terminus). Interacts with ARL4A, CTNNBL1 and NBN. Interacts with SNAI1 (via zinc fingers) and SNAI2 (via zinc
fingers)
Subcellular location: Cytoplasm. Nucleus
Mass spectrometry: Mass=57861.92; Method=MALDI; Range=1-529; Source=PubMed:11840567;
6 PDB 3D structures from and Proteopedia for KPNA2:
1EFX (3D)        1QGK (3D)        1QGR (3D)        3FEX (3D)        3FEY (3D)        4E4V (3D)    
Secondary accessions: B9EJD6 Q53YE3 Q9BRU5

Explore the universe of human proteins at neXtProt for KPNA2: NX_P52292

Explore proteomics data for KPNA2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P52292

  • KPNA2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KPNA2 Protein Expression
    REFSEQ proteins: NP_002257.1  
    ENSEMBL proteins: 
     ENSP00000332455   ENSP00000463320   ENSP00000463602   ENSP00000438483   ENSP00000462331  
    Reactome Protein details: P52292
    Human Recombinant Protein Products for KPNA2: 
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    OriGene Protein Over-expression Lysate for KPNA2
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    Novus Biologicals KPNA2 Proteins
    Novus Biologicals KPNA2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for KPNA2
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus TAS9020106
    GO:0005654nucleoplasm TAS--
    GO:0005737cytoplasm TAS7754385
    GO:0005829cytosol TAS--

    KPNA2 for ontologies           About GeneDecksing



    KPNA2 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Novus Biologicals KPNA2 Antibodies
    Abcam antibodies for KPNA2
    Browse Antibodies at Cloud-Clone Corp. 
    ThermoFisher Antibodies for KPNA2
    LSBio Antibodies in human, mouse, rat for KPNA2 

    Assay Products for KPNA2: 
    Browse Kits and Assays available from EMD Millipore
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    Browse ELISAs at Cloud-Clone Corp. 
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    ARMC: Armadillo repeat containing
    IPO: Importins

    5 InterPro protein domains:
     IPR011989 ARM-like
     IPR000225 Armadillo
     IPR024931 Importing_su_alpha
     IPR002652 Importin-a_IBB
     IPR016024 ARM-type_fold

    Graphical View of Domain Structure for InterPro Entry P52292

    ProtoNet protein and cluster: P52292

    2 Blocks protein domains:
    IPB000225 Armadillo repeat
    IPB002652 Importin alpha-like protein


    UniProtKB/Swiss-Prot: IMA1_HUMAN, P52292
    Domain: Consists of an N-terminal hydrophilic region, a hydrophobic central region composed of 10 repeats, and a
    short hydrophilic C-terminus. The N-terminal hydrophilic region contains the importin beta binding domain (IBB
    domain), which is sufficient for binding importin beta and essential for nuclear protein import
    Domain: The IBB domain is thought to act as an intrasteric autoregulatory sequence by interacting with the
    internal autoinhibitory NLS. Binding of KPNB1 probably overlaps the internal NLS and contributes to a high
    affinity for cytoplasmic NLS-containing cargo substrates. After dissociation of the importin/substrate complex in
    the nucleus the internal autohibitory NLS contributes to a low affinity for nuclear NLS-containing proteins (By
    similarity)
    Domain: The major and minor NLS binding sites are mainly involved in recognition of simple or bipartite NLS
    motifs. Structurally located within in a helical surface groove they contain several conserved Trp and Asn
    residues of the corresponding third helices (H3) of ARM repeats which mainly contribute to binding (By
    similarity)
    Similarity: Belongs to the importin alpha family
    Similarity: Contains 10 ARM repeats
    Similarity: Contains 1 IBB domain


    KPNA2 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: IMA1_HUMAN, P52292
    Function: Functions in nuclear protein import as an adapter protein for nuclear receptor KPNB1. Binds specifically
    and directly to substrates containing either a simple or bipartite NLS motif. Docking of the importin/substrate
    complex to the nuclear pore complex (NPC) is mediated by KPNB1 through binding to nucleoporin FxFG repeats and
    the complex is subsequently translocated through the pore by an energy requiring, Ran-dependent mechanism. At the
    nucleoplasmic side of the NPC, Ran binds to importin-beta and the three components separate and importin-alpha
    and -beta are re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran from importin. The
    directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and
    GDP-bound forms of Ran between the cytoplasm and nucleus

         Genatlas biochemistry entry for KPNA2:
    karyopherin (importin) alpha 2,56kDa,component of the nuclear protein complex (NPC),yeast SRP1 and Xenopus
    importin homolog,involved in the nuclear transport system,recognizing the nuclear localization signal of nuclear
    proteins (NLS)

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005488binding ----
    GO:0005515protein binding IPI10980193
    GO:0008139nuclear localization sequence binding IDA17324944
    GO:0008565protein transporter activity IEA--
    GO:0042826histone deacetylase binding IPI10869435
         
    KPNA2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for KPNA2:
     Decreased viability with cispl 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for KPNA2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for KPNA2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for KPNA2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for KPNA2 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat KPNA2
    8/25 QIAGEN miScript miRNA Assays for microRNAs that regulate KPNA2 (see all 25):
    hsa-miR-302d hsa-miR-520e hsa-miR-106a hsa-miR-485-3p hsa-miR-302e hsa-miR-1297 hsa-miR-520a-3p hsa-miR-144
    SwitchGear 3'UTR luciferase reporter plasmidKPNA2 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for KPNA2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat KPNA2

    Gene Editing
    Products:
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    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: KPNA2 (NM_002266)
    Sino Biological Human cDNA Clone for KPNA2
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for KPNA2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KPNA2
    Sirion Biotech Customized lentivirus for stable overexpression of KPNA2 
                         Customized lentivirus expression plasmids for stable overexpression of KPNA2 

    Cell Line
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    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KPNA2


    (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 KPNA2 About   (see all 10)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Interferon Signaling
    Interferon Signaling0.61
    Antiviral mechanism by IFN-stimulated genes0.42
    Cytokine Signaling in Immune system0.61
    ISG15 antiviral mechanism0.42
    2Cell cycle Spindle assembly and chromosome separation
    Cell cycle Spindle assembly and chromosome separation0.94
    3GPCR Pathway
    NFAT in Immune Response0.58
    4Immune System
    Immune System0.56
    5Influenza A
    Influenza A0.34

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for KPNA2
        Cell cycle Spindle assembly and chromosome separation

    2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for KPNA2
        Ran Pathway
    NFAT in Immune Response

    1 GeneGo (Thomson Reuters) Pathway for KPNA2
        Cell cycle Spindle assembly and chromosome separation

    4 BioSystems Pathways for KPNA2
        TNF-alpha/NF-kB Signaling Pathway
    Regulation of cytoplasmic and nuclear SMAD2/3 signaling
    Role of Calcineurin-dependent NFAT signaling in lymphocytes
    Signaling events mediated by TCPTP


    5        Reactome Pathways for KPNA2
        Antiviral mechanism by IFN-stimulated genes
    Cytokine Signaling in Immune system
    Interferon Signaling
    ISG15 antiviral mechanism
    Immune System


    1         Kegg Pathway  (Kegg details for KPNA2):
        Influenza A


    KPNA2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for KPNA2

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

    5/926 Interacting proteins for KPNA2 (P522921, 2, 3 ENSP000003324554) via UniProtKB, MINT, STRING, and/or I2D (see all 926)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000096150P622692, 3MINT-7945693 I2D: score=3 
    ENSG00000223367P622692, 3MINT-7945693 I2D: score=3 
    ENSG00000226225P622692, 3MINT-7945693 I2D: score=3 
    ENSG00000235650P622692, 3MINT-7945693 I2D: score=3 
    RPS18P622692, 3MINT-7945693 I2D: score=3 
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000018regulation of DNA recombination TAS8016130
    GO:0000072M phase specific microtubule process TAS7565597
    GO:0000085G2 phase of mitotic cell cycle TAS7565597
    GO:0006259DNA metabolic process TAS9168958
    GO:0006606protein import into nucleus ----

    KPNA2 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

    KPNA2 for compounds           About GeneDecksing

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

    Browse Tocris compounds for KPNA2 (IMA1)

    1 HMDB Compound for KPNA2    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--

    1 Novoseek inferred chemical compound relationship for KPNA2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    zinc 0 1 8052633 (1)

    Search CenterWatch for drugs/clinical trials and news about KPNA2 / IMA1

    (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 KPNA2 gene: 
    NM_002266.2  

    Unigene Cluster for KPNA2:

    Karyopherin alpha 2 (RAG cohort 1, importin alpha 1)
    Hs.594238  [show with all ESTs]
    Unigene Representative Sequence: BC067848
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000330459(uc002jgk.3) ENST00000583269 ENST00000584026 ENST00000537025(uc002jgl.3)
    ENST00000579754 ENST00000583392 ENST00000582898
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    8/25 QIAGEN miScript miRNA Assays for microRNAs that regulate KPNA2 (see all 25):
    hsa-miR-302d hsa-miR-520e hsa-miR-106a hsa-miR-485-3p hsa-miR-302e hsa-miR-1297 hsa-miR-520a-3p hsa-miR-144
    SwitchGear 3'UTR luciferase reporter plasmidKPNA2 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AK024833.1 AK058111.1 AK291954.1 BC005978.1 BC013257.1 BC034443.1 BC053343.1 BC067848.1 
    BC146905.1 BT006665.1 U09559.1 U28386.1 

    24/41 DOTS entries (see all 41):

    DT.95277689  DT.100682695  DT.100682698  DT.40106295  DT.97861269  DT.95277695  DT.100682699  DT.95277687 
    DT.95277682  DT.120910040  DT.100701604  DT.95277684  DT.100682697  DT.100637685  DT.100774954  DT.102845429 
    DT.120903735  DT.87077745  DT.91788427  DT.95202463  DT.95277694  DT.95277698  DT.100682686  DT.120909785 

    24/957 AceView cDNA sequences (see all 957):

    CA418637 BM913425 AA974509 CB132472 AI940046 BQ421025 BM771027 BE464656 
    BM464506 CB126142 BQ021307 CB122322 CB110994 BG821373 CB141125 CB159268 
    BE887307 BQ055192 AA180497 R57897 CB111048 BU538640 BM770234 BQ683314 

    GeneLoc Exon Structure

    5/9 Alternative Splicing Database (ASD) splice patterns (SP) for KPNA2 (see all 9)    About this scheme

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

    ExUns: 15a · 15b
    SP1:            
    SP2:            
    SP3:            
    SP4:            
    SP5:            


    ECgene alternative splicing isoforms for KPNA2

    (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

    KPNA2 expression in normal human tissues (normalized intensities)      KPNA2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAGCTGAGAC
    KPNA2 Expression
    About this image


    KPNA2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/40 selected tissues (see all 40) fully expand
     
     Brain (Nervous System)    fully expand to see all 13 entries
             Thalamus
             brain/forebrain/telencephalon   
     
     Heart (Cardiovascular System)    fully expand to see all 5 entries
             heart muscle ; myocytes   
             heart/atrium   
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             XY Germ Cells Testis Cord
             seminal vesicle ; glandular cells   
     
     Lower Urinary Tract (Urinary System)    fully expand to see all 4 entries
             urinary bladder ; urothelial cells   
             visceral organ/bladder   

    See KPNA2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KPNA2

    SOURCE GeneReport for Unigene cluster: Hs.594238

    UniProtKB/Swiss-Prot: IMA1_HUMAN, P52292
    Tissue specificity: Expressed ubiquitously

        SABiosciences Expression via Pathway-Focused PCR Array including KPNA2: 
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    (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.

    Orthologs for KPNA2 gene from 7/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Kpna21 , 5 karyopherin (importin) alpha 21, 5 87.59(n)1
    94.52(a)1
      11 (70.08 cM)5
    166471  NM_010655.31  NP_034785.11 
     1069886295 
    chicken
    (Gallus gallus)
    Aves KPNA21 karyopherin alpha 2 (RAG cohort 1, importin alpha 1) 77.27(n)
    83.52(a)
      417420  NM_001006209.1  NP_001006209.1 
    lizard
    (Anolis carolinensis)
    Reptilia KPNA26
    Importin subunit alpha
    80(a)
    1 ↔ 1
    GL343250.1(1113789-1125650)
    African clawed frog
    (Xenopus laevis)
    Amphibia kpna2-prov2 karyopherin alpha 2 (RAG cohort 1, importin alpha 1) 75.38(n)    BC043778.1 
    zebrafish
    (Danio rerio)
    Actinopterygii hmzeh03892 hmzeh0389 73.78(n)   321393  CA975523.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Pen1 , 3 cytoplasmic transport protein carrier3
    Pendulin1
    50(a)3
    54.47(n)1
    51.66(a)1
      31A23
    343381  NM_057693.41  NP_477041.11 
    worm
    (Caenorhabditis elegans)
    Secernentea ima-23 importin alpha, nuclear transport
    factor
    37(a)   I(6323312-6325134)   --


    ENSEMBL Gene Tree for KPNA2 (if available)
    TreeFam Gene Tree for KPNA2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KPNA2 gene
    KPNA72  KPNA32  SPAG62  KPNA52  KPNA42  KPNA62  KPNA12  
    6 SIMAP similar genes for KPNA2 using alignment to 6 protein entries:     IMA1_HUMAN (see all proteins):
    KPNA5    KPNA1    KPNA6    KPNA7    KPNA3    KPNA4

    KPNA2 for paralogs           About GeneDecksing


    5/7 Pseudogenes.org Pseudogenes for KPNA2 (see all 7)
    PGOHUM00000248902 PGOHUM00000262962 PGOHUM00000245976 PGOHUM00000232912 PGOHUM00000233630


    (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

    10/349 SNPs in KPNA2 are shown (see all 349)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0144534
    ----see VAR_0144532 T P mis40--------
    rs1414519961,2
    --61414809(+) ATATGA/GTAAAC 1 -- us2k10--------
    rs1451886701,2
    --66029848(+) CAGTAC/TTTTCA 1 -- us2k10--------
    rs1476212201,2
    --66030002(+) TGCAAA/GAATTA 1 -- us2k10--------
    rs1420297921,2
    --66030005(+) AAAAAC/TTAGCT 1 -- us2k10--------
    rs1501234151,2
    --66030092(+) GAGGTC/TGCAGT 1 -- us2k10--------
    rs620846791,2
    C,F--66030093(+) AGGTCA/GCAGTG 1 -- us2k14Minor allele frequency- G:0.20NA 10
    rs1488365321,2
    --66030145(+) CTAGAC/TCCTGT 1 -- us2k10--------
    rs65045751,2
    C,A--66030234(+) TCCTAA/CCTGCA 1 -- us2k15Minor allele frequency- C:0.00NA CSA 9
    rs80767571,2
    C,F,H--66030309(+) CTAGGA/GCTCAC 1 -- us2k114Minor allele frequency- G:0.05NS EA NA 1982

    HapMap Linkage Disequilibrium report for KPNA2 (66031635 - 66042970 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for KPNA2:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv436233CNV Deletion17901297
    esv2716136CNV Deletion23290073
    esv2716138CNV Deletion23290073

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    (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: 600685    OMIM disorders: --

    19 diseases for KPNA2:    About MalaCards
    borna disease    nijmegen breakage syndrome    severe acute respiratory syndrome    ductal carcinoma in situ
    malignant mesothelioma    germ cell tumors    ovarian cancer    esophageal squamous cell carcinoma
    influenza    cervical cancer    esophagitis    squamous cell carcinoma
    cervicitis    alzheimer's disease    lung cancer    pancreatitis
    breast cancer    hepatitis    neuronitis


    KPNA2 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    1 Novoseek inferred disease relationship for KPNA2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tumors 0 8 17899179 (2), 18561322 (2), 16818692 (2), 20393006 (1)

    Genetic Association Database (GAD): KPNA2
    Human Genome Epidemiology (HuGE) Navigator: KPNA2 (1 document)

    Export disorders for KPNA2 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 KPNA2 gene, integrated from 9 sources (see all 250):
    (articles sorted by number of sources associating them with KPNA2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of hSRP1 alpha as a functional receptor for nuclear localization sequences. (PubMed id 7754385)1, 2, 3 Weis K....Lamond A.I. (1995)
    2. Rch1, a protein that specifically interacts with the RAG-1 recombination-activating protein. (PubMed id 8016130)1, 2, 3 Cuomo C.A.... Oettinger M.A. (1994)
    3. Genomic structure of karyopherin alpha2 (KPNA2) within a low-copy repeat on chromosome 17q23-q24 and mutation analysis in patients with Russell-Silver syndrome. (PubMed id 11735022)1, 2, 9 Doerr S.... Hansmann I. (2001)
    4. Importin KPNA2 is required for proper nuclear localization and multiple functions of NBS1. (PubMed id 16188882)1, 2, 9 Tseng S.-F.... Teng S.-C. (2005)
    5. Mammalian karyopherin alpha 1 beta and alpha 2 beta heterodimers: alpha 1 or alpha 2 subunit binds nuclear localization signal and beta subunit interacts with peptide repeat-containing nucleoporins. (PubMed id 7604027)1, 2, 9 Moroianu J.... Radu A. (1995)
    6. CTNNBL1 is a novel nuclear localization sequence-bind ing protein that recognizes RNA-splicing factors CDC5L and Prp31. (PubMed id 21385873)1, 2 Ganesh K....Neuberger M. (2011)
    7. Importin alpha protein acts as a negative regulator f or Snail protein nuclear import. (PubMed id 21454664)1, 2 Sekimoto T....Yoneda Y. (2011)
    8. Single nucleotide polymorphisms in miRNA binding site s and miRNA genes as breast/ovarian cancer risk modifiers in Jewish high-risk w omen. (PubMed id 19950226)1, 4 Kontorovich T....Friedman E. (2009)
    9. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)1, 2 Beausoleil S.A.... Gygi S.P. (2006)
    10. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)

    (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: 3838 HGNC: 6395 AceView: KPNA2 Ensembl:ENSG00000182481 euGenes: HUgn3838
    ECgene: KPNA2 Kegg: 3838 H-InvDB: KPNA2

    (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 KPNA2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for KPNA2 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for KPNA2 gene:
    Search GeneIP for patents involving KPNA2

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



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