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KIAA2022 Gene

protein-coding   GIFtS: 44
GCID: GC0XM073872

KIAA2022

  See KIAA2022-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
KIAA20221 2     XPN2
MRX982 5     Uncharacterized Protein KIAA20222
Neurite Extension1     XLMR Protein Related To Neurite Extension2
XLMR-Related Protein1     XLMR-Related Protein, Neurite Extension2

External Ids:    HGNC: 294331   Entrez Gene: 3405332   Ensembl: ENSG000000500307   OMIM: 3005245   UniProtKB: Q5QGS03   

Export aliases for KIAA2022 gene to outside databases

Previous GC identifers: GC0XM072167 GC0XM072820 GC0XM073736 GC0XM067587


(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 KIAA2022 Gene:
An inversion on the X chromosome which disrupts this gene and a G-protein coupled purinergic receptor gene located
in the pseudoautosomal region of the X chromosome has been linked to X linked mental retardation.(provided by
RefSeq, Mar 2009)

GeneCards Summary for KIAA2022 Gene:
KIAA2022 (KIAA2022) is a protein-coding gene. Diseases associated with KIAA2022 include mental retardation, x-linked 98, and kiaa2022-related x-linked mental retardation. GO annotations related to this gene include 3'-5' exonuclease activity and DNA-directed DNA polymerase activity. An important paralog of this gene is REV3L.




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000023.10  NT_011651.18  NC_018934.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the KIAA2022 gene promoter:
         GR   SRF   TBP   Pax-6   SRF (504 AA)   Nkx2-5   STAT1alpha   STAT3   IRF-7A   En-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKIAA2022 promoter sequence
   Search Chromatin IP Primers for KIAA2022

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KIAA2022


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

Entrez Gene cytogenetic band: Xq13.3   Ensembl cytogenetic band:  Xq13.3   HGNC cytogenetic band: Xq13.3

KIAA2022 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KIAA2022 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM073872:  view genomic region     (about GC identifiers)

Start:
73,952,684 bp from pter      End:
74,145,287 bp from pter
Size:
192,604 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: K2022_HUMAN, Q5QGS0 (See protein sequence)
Recommended Name: Uncharacterized protein KIAA2022  
Size: 1516 amino acids; 167551 Da
Sequence caution: Sequence=BAC23118.1; Type=Erroneous initiation;
Secondary accessions: A7YY87 Q5JUX9 Q8IVE9

Explore the universe of human proteins at neXtProt for KIAA2022: NX_Q5QGS0

Explore proteomics data for KIAA2022 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See KIAA2022 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001008537.1  
    ENSEMBL proteins: 
     ENSP00000055682   ENSP00000407055  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    ProtoNet protein and cluster: Q5QGS0


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003887DNA-directed DNA polymerase activity IBA--
    GO:00084083'-5' exonuclease activity IBA--
         
    Find genes that share ontologies with KIAA2022           About GenesLikeMe


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for KIAA2022
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    Selected qRT-PCR Assays for microRNAs that regulate KIAA2022 (see all 161):
    hsa-miR-3938 hsa-miR-1245 hsa-miR-1260b hsa-miR-130b hsa-miR-374b* hsa-let-7e hsa-miR-608 hsa-miR-4296
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    Gene Editing
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    (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 COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    cytosol2

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IBA--
    GO:0043625delta DNA polymerase complex IBA--

    Find genes that share ontologies with KIAA2022           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for KIAA2022
    Interactions:

        Search GeneGlobe Interaction Network for KIAA2022

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

    Selected Interacting proteins for KIAA2022 (Q5QGS02, 3 ENSP000000556824) via UniProtKB, MINT, STRING, and/or I2D (see all 89)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TERF1P542743, ENSP000002766034I2D: score=1 STRING: ENSP00000276603
    TERF2Q155543, ENSP000002549424I2D: score=1 STRING: ENSP00000254942
    FANCMENSP000002674304STRING: ENSP00000267430
    XPAENSP000003642704STRING: ENSP00000364270
    RAD18ENSP000002649264STRING: ENSP00000264926
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006287base-excision repair, gap-filling IBA--
    GO:0006297nucleotide-excision repair, DNA gap filling IBA--
    GO:0007346regulation of mitotic cell cycle IBA--
    GO:0019985NOT translesion synthesis IBA--
    GO:0043137DNA replication, removal of RNA primer IBA--

    Find genes that share ontologies with KIAA2022           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for KIAA2022 (K2022)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for KIAA2022 gene: 
    NM_001008537.2  

    Unigene Cluster for KIAA2022:

    KIAA2022
    Hs.124128  [show with all ESTs]
    Unigene Representative Sequence: NM_001008537
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000055682 ENST00000424929
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate KIAA2022 (see all 161):
    hsa-miR-3938 hsa-miR-1245 hsa-miR-1260b hsa-miR-130b hsa-miR-374b* hsa-let-7e hsa-miR-608 hsa-miR-4296
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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      QuantiFast Probe-based Assays in human, mouse, rat KIAA2022

    Additional mRNA sequence: 

    AB095942.1 AK128651.1 AK307471.1 AY563507.1 BC038798.1 BC152557.1 

    2 DOTS entries:

    DT.205828  DT.75105839 

    Selected AceView cDNA sequences (see all 33):

    AI167637 AI801888 AA350307 AI885844 AB095942 AK128651 BC038798 BF433828 
    Z45363 AI498249 BE669952 BX111589 BX951403 AW953251 AA862257 F06484 
    BI912827 CA776064 BX477656 AW242757 BX477655 AL700133 Z41078 BM976023 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    KIAA2022 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTGTGAAAGA
    KIAA2022 Expression
    About this image


    KIAA2022 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Thalamus
     
     Heart (Cardiovascular System)
             Endocardial Tube Cells Endocardium
    KIAA2022 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KIAA2022 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.124128

    UniProtKB/Swiss-Prot: K2022_HUMAN, Q5QGS0
    Tissue specificity: Highly expressed in fetal and adult brain, predominantly in the cerebral cortex and the
    cerebellum. Also expressed in other tissues but to a lesser extent

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    In Situ
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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 and fungi.

    Orthologs for KIAA2022 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia C773701 , 5 expressed sequence C773701, 5 87.75(n)1
    85.99(a)1
      X (46.48 cM)5
    2455551  NM_001077354.21  NP_001070822.21 
     1040774345 
    chicken
    (Gallus gallus)
    Aves KIAA20221 KIAA2022 70.14(n)
    65.44(a)
      422325  XM_420300.4  XP_420300.4 
    lizard
    (Anolis carolinensis)
    Reptilia KIAA20226
    KIAA2022
    57(a)
    1 ↔ 1
    GL343813.1(143707-157056)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia kiaa20221 KIAA2022 ortholog 64(n)
    59.4(a)
      100494480  XM_002931826.2  XP_002931872.2 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.153752 Transcribed sequences 87.98(n)    CK361953.1 
    worm
    (Caenorhabditis elegans)
    Secernentea Y37B11A.26
    Protein Y37B11A.2 (Y37B11A.2) mRNA, complete cds
    10(a)
    1 ↔ 1
    III(5774678-5782019) WBGene00021344
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes REV36
    Catalytic subunit of DNA polymerase zeta, involved...
    8(a)
    1 → many
    XVI(232593-237107) YPL167C


    ENSEMBL Gene Tree for KIAA2022 (if available)
    TreeFam Gene Tree for KIAA2022 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KIAA2022 gene
    REV3L2  

    Find genes that share paralogs with KIAA2022           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for KIAA2022 (see all 2412)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1862695221,2
    --67780731(+) ATTTGC/GGTTTA 1 -- int10--------
    rs1908500151,2
    --67780734(+) TGGGTG/TTACTA 1 -- int10--------
    rs584358041,2
    C,F--67780883(+) TACTAC/AGTTAA 1 -- int12Minor allele frequency- A:0.33WA CSA 3
    rs1907253451,2
    --73960449(+) TCCAGC/TGAGAA 1 -- ds50010--------
    rs1829205631,2
    --73960533(+) GCTCAC/TGTGTG 1 -- ds50010--------
    rs1886733661,2
    --73960673(+) ACTGAG/TTTCGG 1 -- ds50010--------
    rs1923173291,2
    --73960945(+) AAGAAC/TCCCCT 1 -- ut310--------
    rs1828961601,2
    --73961011(+) GGGATC/TTTGTT 1 -- ut310--------
    rs1874989411,2
    --73961048(+) TTGGTA/GTAGGG 1 -- ut310--------
    rs1922629791,2
    --73961068(+) TCGCAC/TTCCTA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for KIAA2022 (73952684 - 74145287 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for KIAA2022: --
    Human Gene Mutation Database (HGMD): KIAA2022
    Locus Specific Mutation Databases (LSDB): KIAA2022

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing KIAA2022
    DNA2.0 Custom Variant and Variant Library Synthesis for KIAA2022

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 300524   
    OMIM disorders: 300912  
    UniProtKB/Swiss-Prot: K2022_HUMAN, Q5QGS0
  • Note=A chromosomal aberration involving KIAA2022 is found in 2 patients with severe mental retardation
    (MR). Pericentric inversion inv(X)(p22.3;q13.2). The Xq13 breakpoint lies within a predicted intron of KIAA2022
    gene. KIAA2022 protein is no longer expressed in these patients lymphocytes

  • 2 diseases for KIAA2022:    
    About MalaCards
    mental retardation, x-linked 98    kiaa2022-related x-linked mental retardation

    1 disease from the University of Copenhagen DISEASES database for KIAA2022:
    Intellectual disability

    Find genes that share disorders with KIAA2022           About GenesLikeMe


    Export disorders for KIAA2022 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 KIAA2022 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with KIAA2022)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded males. (PubMed id 15466006)1, 2, 3 Cantagrel V.... Villard L. (J. Med. Genet. 2004)
    2. Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth. (PubMed id 23615299)1, 3 Van Maldergem L....Man H.Y. (Hum. Mol. Genet. 2013)
    3. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (Nature 2005)
    4. XLMR protein related to neurite extension (Xpn/KIAA2022) regulates cell-cell and cell-matrix adhesion and migration. (PubMed id 24071057)1 Magome T....Katayama T. (Neurochem. Int. 2013)
    5. Transient expression of Xpn, an XLMR protein related to neurite extension, during brain development and participation in neurite outgrowth. (PubMed id 22531377)1 Ishikawa T....Tohyama M. (Neuroscience 2012)
    6. The protein network surrounding the human telomere repeat binding factors TRF1, TRF2, and POT1. (PubMed id 20811636)1 Giannone R.J....Liu Y. (PLoS ONE 2010)
    7. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (amp 2008)
    8. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    10. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 340533 HGNC: 29433 AceView: KIAA2022 Ensembl:ENSG00000050030 euGenes: HUgn340533
    ECgene: KIAA2022 H-InvDB: KIAA2022

    (According to HUGE)
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    HUGE: KIAA2022

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for KIAA2022 Pharmacogenomics, SNPs, Pathways

    (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 KIAA2022 gene:
    Search GeneIP for patents involving KIAA2022

    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, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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