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KPNA2 Gene

protein-coding   GIFtS: 70
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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 malignant germ cell tumor, and borna disease. GO annotations related to this gene include histone deacetylase binding 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000017.11  NC_018928.2  NT_010783.16  
Regulatory elements:
   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 Chromatin IP Primers for KPNA2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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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)
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: 

  • Ubiquitination2 at Lys83, Lys108, Lys123, Lys240, Lys291, Lys300, Lys353, Lys486
  • Modification sites at PhosphoSitePlus

  • See KPNA2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_002257.1  
    ENSEMBL proteins: 
     ENSP00000332455   ENSP00000463320   ENSP00000463602   ENSP00000438483   ENSP00000462331  
    Reactome Protein details: P52292

    KPNA2 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Proteins for KPNA2
    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.

    KPNA2 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of KPNA2
    R&D Systems Antibodies for KPNA2 (Importin alpha 2/KPNA2)
    OriGene Antibodies for KPNA2
    OriGene Custom Antibody Services for KPNA2
    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

    KPNA2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for KPNA2
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for KPNA2
    Browse Enzo Life Sciences for kits & assays
    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)
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    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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): Selected molecular function terms (see all 6):    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: Let us create your new Knockout/Knockin mouse model for KPNA2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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
    Products:
        
    miRTarBase miRNAs that target KPNA2:
    hsa-mir-342-3p (MIRT043663), hsa-mir-92a-3p (MIRT049112), hsa-mir-326 (MIRT043631), hsa-mir-93-5p (MIRT048751), hsa-mir-17-3p (MIRT050744), hsa-mir-100-5p (MIRT048398), hsa-mir-106a-5p (MIRT048335), hsa-mir-16-5p (MIRT031798), hsa-mir-181b-5p (MIRT047247), hsa-mir-193b-3p (MIRT016443)

    Block miRNA regulation of human, mouse, rat KPNA2 using miScript Target Protectors
    Selected qRT-PCR 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:
        
    OriGene RNAi products in human, mouse, rat for KPNA2
    Predesigned siRNA for gene silencing in human, mouse, rat KPNA2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for KPNA2

    Clone
    Products:
         
    OriGene clones in human, mouse for KPNA2 (see all 7)
    OriGene ORF clones in mouse, rat for KPNA2
    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

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for KPNA2
    Browse ESI BIO Cell Lines and PureStem Progenitors for KPNA2 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KPNA2


    (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
    IMA1_HUMAN, P52292: Cytoplasm. Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol4
    mitochondrion1
    plasma membrane1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--

    KPNA2 for ontologies           About GeneDecksing


    (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 KPNA2 About   (see all 9)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Interferon Signaling
    Interferon Signaling0.59
    ISG15 antiviral mechanism0.42
    Cytokine Signaling in Immune system0.59
    Antiviral mechanism by IFN-stimulated genes0.42
    2GPCR Pathway
    NFAT in Immune Response0.58
    3Influenza A
    Influenza A0.34
    4TNF-alpha/NF-kB Signaling Pathway
    TNF-alpha/NF-kB Signaling Pathway
    5Signaling events mediated by TCPTP
    Signaling events mediated by TCPTP

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe 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
    Role of Calcineurin-dependent NFAT signaling in lymphocytes
    Regulation of cytoplasmic and nuclear SMAD2/3 signaling
    Signaling events mediated by TCPTP


    1 Reactome Pathway for KPNA2
        ISG15 antiviral mechanism


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


    KPNA2 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including KPNA2: 
              Cell Cycle in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for KPNA2

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

    Selected Interacting proteins for KPNA2 (P522921, 2, 3 ENSP000003324554) via UniProtKB, MINT, STRING, and/or I2D (see all 1051)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    S100A6P067031, 2, 3, ENSP000003577084EBI-349938,EBI-352877 MINT-8044928 MINT-8045257 MINT-8044941 I2D: score=1 STRING: ENSP00000357708
    SUN2Q9UH991, 2, 3, ENSP000002160644EBI-349938,EBI-1044964 MINT-7993400 MINT-7993425 MINT-7993447 I2D: score=1 STRING: ENSP00000216064
    RECQLP460631, 2, 3, ENSP000003954494EBI-349938,EBI-2823728 MINT-6733215 MINT-6733231 I2D: score=3 STRING: ENSP00000395449
    ENSG00000096150P622692, 3MINT-7945693 I2D: score=3 
    ENSG00000223367P622692, 3MINT-7945693 I2D: score=3 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000018regulation of DNA recombination TAS8016130
    GO:0000085mitotic G2 phase TAS7565597
    GO:0006259DNA metabolic process TAS9168958
    GO:0006606protein import into nucleus ----
    GO:0006607NLS-bearing protein import into nucleus IDA17324944

    KPNA2 for ontologies           About GeneDecksing



    (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 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)



    KPNA2 for compounds           About GeneDecksing



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    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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    Block miRNA regulation of human, mouse, rat KPNA2 using miScript Target Protectors
    Selected qRT-PCR 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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    Predesigned siRNA for gene silencing in human, mouse, rat KPNA2
    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)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for KPNA2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KPNA2
    Primer
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    OriGene qPCR primer pairs and template standards for KPNA2
    OriGene qSTAR qPCR primer pairs in human, mouse for KPNA2
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      QuantiTect SYBR Green Assays in human, mouse, rat KPNA2
      QuantiFast Probe-based Assays in human, mouse, rat KPNA2

    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 

    Selected 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 

    Selected AceView cDNA sequences (see all 957):

    BQ021307 AA582440 AA773175 AI940046 CB122924 CR595289 BM755927 BE887307 
    AU142464 BM548941 BU155360 BQ425122 BG676312 BE905207 CB110518 BE793862 
    AA180497 BM450142 BU527350 BM744436 CB114485 CB141125 BQ669831 BQ053055 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to Genevestigator, and/or 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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    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
     selected tissues (see all 13) fully expand
     
     Brain (Nervous System)    fully expand to see all 10 entries
             Thalamus
     
     Ovary (Reproductive System)    fully expand to see all 5 entries
             Oviduct
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Telencephalon
     
     Gonad (Reproductive System)    fully expand to see all 2 entries
             Primordial Germ Cells Primitive Gonad
     
     Lung (Respiratory System)    fully expand to see all 2 entries
             Stem Bronchi
    KPNA2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KPNA2 Protein Expression

    Genevestigator expression for KPNA2

    SOURCE GeneReport for Unigene cluster: Hs.594238

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

        Pathway & Disease-focused RT2 Profiler 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)
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    This gene was present in the common ancestor of animals.

    Orthologs for KPNA2 gene from Selected 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
    karyopherin alpha 2 (RAG cohort 1, importin 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)
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    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):
    KPNA7    KPNA4    KPNA3    KPNA5    KPNA1    KPNA6

    KPNA2 for paralogs           About GeneDecksing


    Selected 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for KPNA2 (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
    ----------
    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
    rs1815680641,2
    --66030484(+) CACATG/TCTTGC 1 -- us2k10--------

    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

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing KPNA2
    DNA2.0 Custom Variant and Variant Library Synthesis for KPNA2

    (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.)
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    OMIM gene information: 600685    OMIM disorders: --

    Selected diseases for KPNA2 (see all 32):    About MalaCards
    malignant germ cell tumor    borna disease    nijmegen breakage syndrome    progeria
    severe acute respiratory syndrome    ductal carcinoma in situ    malignant mesothelioma    hiv-1
    germ cell tumors    gastric adenocarcinoma    labyrinthitis    esophageal squamous cell carcinoma
    influenza    huntington's disease    cervical cancer    astrocytoma
    cervicitis    squamous cell carcinoma    esophagitis    tonsillitis


    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)
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    PubMed articles for KPNA2 gene, integrated from 10 sources (see all 257):
    (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. (Science 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. (Proc. Natl. Acad. Sci. U.S.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. (Hum. Genet. 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. (J. Biol. Chem. 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. (Proc. Natl. Acad. Sci. U.S.A. 1995)
    6. CTNNBL1 is a novel nuclear localization sequence-binding protein that recognizes RNA-splicing factors CDC5L and Prp31. (PubMed id 21385873)1, 2 Ganesh K.... Neuberger M. (J. Biol. Chem. 2011)
    7. Importin alpha protein acts as a negative regulator for Snail protein nuclear import. (PubMed id 21454664)1, 2 Sekimoto T.... Yoneda Y. (J. Biol. Chem. 2011)
    8. Single nucleotide polymorphisms in miRNA binding sites and miRNA genes as breast/ovarian cancer risk modifiers in Jewish high-risk women. (PubMed id 19950226)1, 4 Kontorovich T....Friedman E. (Int. J. Cancer 2010)
    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. (Nat. Biotechnol. 2006)
    10. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 3838 HGNC: 6395 AceView: KPNA2 Ensembl:ENSG00000182481 euGenes: HUgn3838
    ECgene: KPNA2 Kegg: 3838 H-InvDB: KPNA2

    (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 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

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    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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