Human Gene KPNA2 (ENST00000330459.8_9) from GENCODE V47lift37
  Description: karyopherin subunit alpha 2, transcript variant 2 (from RefSeq NM_002266.4)
Gencode Transcript: ENST00000330459.8_9
Gencode Gene: ENSG00000182481.10_14
Transcript (Including UTRs)
   Position: hg19 chr17:66,031,851-66,042,970 Size: 11,120 Total Exon Count: 11 Strand: +
Coding Region
   Position: hg19 chr17:66,033,249-66,042,712 Size: 9,464 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:66,031,851-66,042,970)mRNA (may differ from genome)Protein (529 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: IMA2_HUMAN
DESCRIPTION: RecName: Full=Importin subunit alpha-2; AltName: Full=Karyopherin subunit alpha-2; AltName: Full=RAG cohort protein 1; AltName: Full=SRP1-alpha;
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.
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.
INTERACTION: P38398:BRCA1; NbExp=3; IntAct=EBI-349938, EBI-349905; P05412:JUN; NbExp=2; IntAct=EBI-349938, EBI-852823;
SUBCELLULAR LOCATION: Cytoplasm. Nucleus.
TISSUE SPECIFICITY: Expressed ubiquitously.
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).
MASS SPECTROMETRY: Mass=57861.92; Method=MALDI; Range=1-529; Source=PubMed:11840567;
SIMILARITY: Belongs to the importin alpha family.
SIMILARITY: Contains 10 ARM repeats.
SIMILARITY: Contains 1 IBB domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: KPNA2
Diseases sorted by gene-association score: malignant germ cell tumor (5), ovarian endodermal sinus tumor (2), ovarian primitive germ cell tumor (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • D016604 Aflatoxin B1
  • D013749 Tetrachlorodibenzodioxin
  • C006780 bisphenol A
  • C111118 2',3,3',4',5-pentachloro-4-hydroxybiphenyl
  • C016403 2,4-dinitrotoluene
  • C023514 2,6-dinitrotoluene
  • C472791 3-(4'-hydroxy-3'-adamantylbiphenyl-4-yl)acrylic acid
  • C009505 4,4'-diaminodiphenylmethane
  • C027576 4-hydroxy-2-nonenal
  • D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide
          more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 106.55 RPKM in Testis
Total median expression: 579.26 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -30.30129-0.235 Picture PostScript Text
3' UTR -46.20258-0.179 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011989 - ARM-like
IPR016024 - ARM-type_fold
IPR000225 - Armadillo
IPR002652 - Importin-a_IBB
IPR024931 - Importing_su_alpha

Pfam Domains:
PF00514 - Armadillo/beta-catenin-like repeat
PF01749 - Importin beta binding domain
PF13513 - HEAT-like repeat
PF16186 - Atypical Arm repeat

SCOP Domains:
48371 - ARM repeat
48431 - Lipovitellin-phosvitin complex, superhelical domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1EFX - X-ray MuPIT 1QGK - X-ray MuPIT 1QGR - X-ray MuPIT 3FEX - X-ray MuPIT 3FEY - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P52292
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
 Gene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003723 RNA binding
GO:0005515 protein binding
GO:0008139 nuclear localization sequence binding
GO:0008565 protein transporter activity
GO:0042826 histone deacetylase binding
GO:0061608 nuclear import signal receptor activity

Biological Process:
GO:0000018 regulation of DNA recombination
GO:0006259 DNA metabolic process
GO:0006606 protein import into nucleus
GO:0006607 NLS-bearing protein import into nucleus
GO:0015031 protein transport
GO:0016032 viral process
GO:0019054 modulation by virus of host process

Cellular Component:
GO:0005634 nucleus
GO:0005643 nuclear pore
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0016020 membrane


-  Descriptions from all associated GenBank mRNAs
  U09559 - Human Rch1 (RCH1) mRNA, complete cds.
U28386 - Human nuclear localization sequence receptor hSRP1alpha mRNA, complete cds.
AK024833 - Homo sapiens cDNA: FLJ21180 fis, clone CAS11176, highly similar to HSU28386 Human nuclear localization sequence receptor hSRP1alpha mRNA.
BC005978 - Homo sapiens karyopherin alpha 2 (RAG cohort 1, importin alpha 1), mRNA (cDNA clone MGC:14668 IMAGE:4105058), complete cds.
AK291954 - Homo sapiens cDNA FLJ78270 complete cds, highly similar to Homo sapiens karyopherin alpha 2 (RAG cohort 1, importin alpha 1)(KPNA2), mRNA.
AK058111 - Homo sapiens cDNA FLJ25382 fis, clone TST02229, highly similar to IMPORTIN ALPHA-2 SUBUNIT.
BC013257 - Homo sapiens karyopherin alpha 2 (RAG cohort 1, importin alpha 1), mRNA (cDNA clone IMAGE:3867599).
BC053343 - Homo sapiens karyopherin alpha 2 (RAG cohort 1, importin alpha 1), mRNA (cDNA clone MGC:61578 IMAGE:4450470), complete cds.
BC146905 - Homo sapiens karyopherin alpha 2 (RAG cohort 1, importin alpha 1), mRNA (cDNA clone MGC:182008 IMAGE:9056833), complete cds.
BC034443 - Homo sapiens karyopherin alpha 2 (RAG cohort 1, importin alpha 1), mRNA (cDNA clone IMAGE:4824211).
BC067848 - Homo sapiens karyopherin alpha 2 (RAG cohort 1, importin alpha 1), mRNA (cDNA clone MGC:87448 IMAGE:4825235), complete cds.
DQ893768 - Synthetic construct Homo sapiens clone IMAGE:100008228; FLH164350.01L; RZPDo839F05161D karyopherin alpha 2 (RAG cohort 1, importin alpha 1) (KPNA2) gene, encodes complete protein.
DQ890599 - Synthetic construct clone IMAGE:100003229; FLH164354.01X; RZPDo839F05162D karyopherin alpha 2 (RAG cohort 1, importin alpha 1) (KPNA2) gene, encodes complete protein.
AB527522 - Synthetic construct DNA, clone: pF1KB5912, Homo sapiens KPNA2 gene for karyopherin alpha 2, without stop codon, in Flexi system.
CU690954 - Synthetic construct Homo sapiens gateway clone IMAGE:100021440 5' read KPNA2 mRNA.
CU688362 - Synthetic construct Homo sapiens gateway clone IMAGE:100022880 5' read KPNA2 mRNA.
CU675213 - Synthetic construct Homo sapiens gateway clone IMAGE:100018358 5' read KPNA2 mRNA.
KJ897105 - Synthetic construct Homo sapiens clone ccsbBroadEn_06499 KPNA2 gene, encodes complete protein.
KJ897106 - Synthetic construct Homo sapiens clone ccsbBroadEn_06500 KPNA2 gene, encodes complete protein.
KJ897107 - Synthetic construct Homo sapiens clone ccsbBroadEn_06501 KPNA2 gene, encodes complete protein.
BT006665 - Homo sapiens karyopherin alpha 2 (RAG cohort 1, importin alpha 1) mRNA, complete cds.
LF382146 - JP 2014500723-A/189649: Polycomb-Associated Non-Coding RNAs.
JD412043 - Sequence 393067 from Patent EP1572962.
JD367373 - Sequence 348397 from Patent EP1572962.
JD500105 - Sequence 481129 from Patent EP1572962.
JD280274 - Sequence 261298 from Patent EP1572962.
JD087625 - Sequence 68649 from Patent EP1572962.
MA617723 - JP 2018138019-A/189649: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_npcPathway - Mechanism of Protein Import into the Nucleus
h_ranMSpathway - Role of Ran in mitotic spindle regulation

Reactome (by CSHL, EBI, and GO)

Protein P52292 (Reactome details) participates in the following event(s):

R-HSA-5684008 NBN binds KPNA2
R-HSA-5684006 KPNA2 translocates NBN to the nucleus
R-HSA-6791035 Release of NS1 homodimer
R-HSA-5693548 Sensing of DNA Double Strand Breaks
R-HSA-9018519 Estrogen-dependent gene expression
R-HSA-5693606 DNA Double Strand Break Response
R-HSA-8939211 ESR-mediated signaling
R-HSA-168276 NS1 Mediated Effects on Host Pathways
R-HSA-1169408 ISG15 antiviral mechanism
R-HSA-5693532 DNA Double-Strand Break Repair
R-HSA-9006931 Signaling by Nuclear Receptors
R-HSA-168253 Host Interactions with Influenza Factors
R-HSA-1169410 Antiviral mechanism by IFN-stimulated genes
R-HSA-73894 DNA Repair
R-HSA-162582 Signal Transduction
R-HSA-168254 Influenza Infection
R-HSA-913531 Interferon Signaling
R-HSA-5663205 Infectious disease
R-HSA-1280215 Cytokine Signaling in Immune system
R-HSA-1643685 Disease
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: B9EJD6, ENST00000330459.1, ENST00000330459.2, ENST00000330459.3, ENST00000330459.4, ENST00000330459.5, ENST00000330459.6, ENST00000330459.7, IMA1_HUMAN, KPNA2 , NM_002266, P52292, Q53YE3, Q6NVW7, Q9BRU5, RCH1, SRP1, uc317syy.1, uc317syy.2
UCSC ID: ENST00000330459.8_9
RefSeq Accession: NM_002266.4
Protein: P52292 (aka IMA2_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.