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DCDC2 Gene

protein-coding   GIFtS: 56
GCID: GC06M024122

Doublecortin Domain Containing 2

  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
Doublecortin Domain Containing 21 2     RU2S2
RU22 3 5     Doublecortin Domain-Containing Protein 22
KIAA11543 5     Protein RU2S3
DCDC2A2     

External Ids:    HGNC: 181411   Entrez Gene: 514732   Ensembl: ENSG000001460387   OMIM: 6057555   UniProtKB: Q9UHG03   

Export aliases for DCDC2 gene to outside databases

Previous GC identifers: GC06M024233 GC06M024254 GC06M024277


(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 DCDC2 Gene:
This gene encodes a doublecortin domain-containing family member. The doublecortin domain has been demonstrated to
bind tubulin and enhance microtubule polymerization. This family member is thought to function in neuronal
migration where it may affect the signaling of primary cilia. Mutations in this gene have been associated with
reading disability (RD) type 2, also referred to as developmental dyslexia. Alternatively spliced transcript
variants encoding the same protein have been found for this gene. (provided by RefSeq, Jan 2013)

GeneCards Summary for DCDC2 Gene:
DCDC2 (doublecortin domain containing 2) is a protein-coding gene. Diseases associated with DCDC2 include writing disorder, and dyslexia. An important paralog of this gene is DCDC2B.

UniProtKB/Swiss-Prot: DCDC2_HUMAN, Q9UHG0
Function: May be involved in neuronal migration during development of the cerebral neocortex (By similarity)

Gene Wiki entry for DCDC2 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_000006.12  NC_018917.2  NT_007592.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the DCDC2 gene promoter:
         E2F-3a   E2F-4   NF-1   E2F-5   E2F-2   E47   GATA-1   E2F-1   E2F   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDCDC2 promoter sequence
   Search Chromatin IP Primers for DCDC2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DCDC2


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

Entrez Gene cytogenetic band: 6p22.1   Ensembl cytogenetic band:  6p22.3   HGNC cytogenetic band: 6p22.1

DCDC2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DCDC2 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M024122:  view genomic region     (about GC identifiers)

Start:
24,171,983 bp from pter      End:
24,383,520 bp from pter
Size:
211,538 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, 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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: DCDC2_HUMAN, Q9UHG0 (See protein sequence)
Recommended Name: Doublecortin domain-containing protein 2  
Size: 476 amino acids; 52834 Da
Sequence caution: Sequence=CAB61371.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
1 PDB 3D structure from and Proteopedia for DCDC2:
2DNF (3D)    
Secondary accessions: Q5VTR8 Q5VTR9 Q86W35 Q9UFD1 Q9UHG1 Q9ULR6
Alternative splicing: 2 isoforms:  Q9UHG0-1   Q9UHG0-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for DCDC2: NX_Q9UHG0

Explore proteomics data for DCDC2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See DCDC2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001182539.1  NP_057440.2  

    ENSEMBL proteins: 
     ENSP00000367711   ENSP00000367715   ENSP00000410939  

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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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    1 InterPro protein domain:
     IPR003533 Doublecortin_dom

    Graphical View of Domain Structure for InterPro Entry Q9UHG0

    ProtoNet protein and cluster: Q9UHG0

    UniProtKB/Swiss-Prot: DCDC2_HUMAN, Q9UHG0
    Similarity: Contains 2 doublecortin domains


    DCDC2 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: DCDC2_HUMAN, Q9UHG0
    Function: May be involved in neuronal migration during development of the cerebral neocortex (By similarity)

    Phenotypes:
         1 GenomeRNAi human phenotype for DCDC2:

     Synthetic lethal with Ras 

         2 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Dcdc2a):
     behavior/neurological  nervous system 

    DCDC2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Dcdc2atm1.2Jjlo for DCDC2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DCDC2
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for DCDC2

    miRNA
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    miRTarBase miRNAs that target DCDC2:
    hsa-mir-328-3p (MIRT043780)

    Block miRNA regulation of human, mouse, rat DCDC2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate DCDC2 (see all 31):
    hsa-miR-495 hsa-miR-520e hsa-miR-302d hsa-miR-429 hsa-miR-137 hsa-miR-302e hsa-miR-410 hsa-miR-3167
    SwitchGear 3'UTR luciferase reporter plasmidDCDC2 3' UTR sequence
    Inhib. RNA
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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
    mitochondrion3
    peroxisome2
    cytoskeleton1
    cytosol1
    nucleus1

    (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 DCDC2
    Interactions:

        GeneGlobe Interaction Network for DCDC2

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for DCDC2 (ENSP000003677154) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KIAA1432ENSP000004022404STRING: ENSP00000402240
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001764neuron migration NAS16278297
    GO:0006968cellular defense response TAS10601354
    GO:0035556intracellular signal transduction IEA--
    GO:0048813dendrite morphogenesis IEA--

    DCDC2 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 DCDC2



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for DCDC2 gene (2 alternative transcripts): 
    NM_001195610.1  NM_016356.4  

    Unigene Cluster for DCDC2:

    Doublecortin domain containing 2
    Hs.61345  [show with all ESTs]
    Unigene Representative Sequence: AB032980
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000378450(uc003ndw.3) ENST00000378454(uc003ndx.3 uc003ndy.3)
    ENST00000436313
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate DCDC2 (see all 31):
    hsa-miR-495 hsa-miR-520e hsa-miR-302d hsa-miR-429 hsa-miR-137 hsa-miR-302e hsa-miR-410 hsa-miR-3167
    SwitchGear 3'UTR luciferase reporter plasmidDCDC2 3' UTR sequence
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    Additional mRNA sequence: 

    AB032980.2 AF181721.1 AK027036.1 BC050704.1 

    7 DOTS entries:

    DT.40245473  DT.95261613  DT.100820887  DT.100820888  DT.92013933  DT.92421305  DT.86851207 

    Selected AceView cDNA sequences (see all 56):

    BF593580 CD722449 BQ650550 BQ644474 AI858903 AW444617 BQ644671 BM927835 
    AF181721 AA127805 BQ948660 BM833169 NM_016356 AW150317 AA127741 CR611697 
    AW293816 BE139585 CB140335 AL133043 AK027036 BX279966 N43170 AI219704 

    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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    DCDC2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    DCDC2 Expression
    About this image


    DCDC2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Brain (Nervous System)    fully expand to see all 8 entries
             Thalamus
     
     Kidney (Urinary System)    fully expand to see all 3 entries
             Ureteric Bud Tip Cells Ureteric Bud
             Ureteric Bud
     
     Neural Tube (Nervous System)
             Metencephalon
     
     Liver (Hepatobiliary System)
    DCDC2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DCDC2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.61345

    UniProtKB/Swiss-Prot: DCDC2_HUMAN, Q9UHG0
    Tissue specificity: Ubiquitously expressed. In brain, highly expressed in the entorhinal cortex, inferior temporal
    cortex, medial temporal cortex, hypothalamus, amygdala and hippocampus

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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 chordates.

    Orthologs for DCDC2 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dcdc2a1 , 5 doublecortin domain containing 2a1, 5 82.81(n)1
    83.37(a)1
      13 (10.89 cM)5
    1952081  NM_177577.31  NP_808245.21 
     250560045 
    chicken
    (Gallus gallus)
    Aves DCDC21 doublecortin domain containing 2 69.16(n)
    63.89(a)
      420821  XM_003640752.2  XP_003640800.2 
    lizard
    (Anolis carolinensis)
    Reptilia DCDC26
    doublecortin domain containing 2
    61(a)
    1 ↔ 1
    4(54158148-54218607)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC529702 similar to RU2S 74.55(n)    BC046665.1 
    zebrafish
    (Danio rerio)
    Actinopterygii dcdc2b1 doublecortin domain containing 2B 53.71(n)
    47.77(a)
      563259  NM_001037689.1  NP_001032778.1 


    ENSEMBL Gene Tree for DCDC2 (if available)
    TreeFam Gene Tree for DCDC2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DCDC2 gene
    DCDC2B2  DCDC2C2  
    2 SIMAP similar genes for DCDC2 using alignment to 2 protein entries:     DCDC2_HUMAN (see all proteins):
    DCDC2C    DCDC2B

    DCDC2 for paralogs           About GeneDecksing



    (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 DCDC2 (see all 5076)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1889445871,2
    --24093304(+) CTTGCA/GGCCAC 2 -- ds50010--------
    rs758458471,2
    C,F--24093326(+) CACAGT/ATTTTT 2 -- ds50012Minor allele frequency- A:0.50WA CSA 4
    rs1999774461,2
    --24093326(+) CACAG-/ATTTTT 2 -- ds50010--------
    rs778391441,2
    C,F--24093331(+) ATTTTC/TTTCTA 2 -- ds50012Minor allele frequency- T:0.50WA CSA 4
    rs749458871,2
    C,F--24093418(+) AAATTG/AGAAGA 2 -- ds50011Minor allele frequency- A:0.03NA 120
    rs1447344811,2
    --24093502(+) ATGTAC/TGGGAT 2 -- ds50010--------
    rs1382599411,2
    --24093525(+) ACACAC/GCACAT 2 -- ds50010--------
    rs1438562261,2
    --24093594(+) ATGAGG/TGTGGC 2 -- ds50010--------
    rs1472526441,2
    --24093607(+) CCTAAC/TATTCC 2 -- ds50010--------
    rs1405922111,2
    --24093658(+) CATCCC/TAAGGT 2 -- ds50010--------

    HapMap Linkage Disequilibrium report for DCDC2 (24171983 - 24383520 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for DCDC2 (see all 15):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2671001CNV Deletion23128226
    esv2731711CNV Deletion23290073
    dgv1081e199CNV Deletion23128226
    nsv512869CNV Insertion21212237
    esv1324202CNV Insertion17803354
    esv2456318CNV Insertion19546169
    esv269112CNV Insertion20981092
    esv33412CNV Loss17666407
    esv9426CNV Loss19470904
    esv33852CNV Loss17666407

    Human Gene Mutation Database (HGMD): DCDC2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DCDC2
    DNA2.0 Custom Variant and Variant Library Synthesis for DCDC2

    (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: 605755    OMIM disorders: --

    UniProtKB/Swiss-Prot: DCDC2_HUMAN, Q9UHG0
  • Dyslexia 2 (DYX2) [MIM:600202]: A relatively common, complex cognitive disorder characterized by an
    impairment of reading performance despite adequate motivational, educational and intellectual opportunities. It
    is a multifactorial trait, with evidence for familial clustering and heritability. Note=Disease susceptibility is
    associated with variations affecting the gene represented in this entry

  • 10 diseases for DCDC2:    
    About MalaCards
    writing disorder    dyslexia    attention deficit hyperactivity disorder    schizophrenia
    cerebritis    neuronitis    prostate cancer    prostatitis
    multiple myeloma    myeloma

    2 diseases from the University of Copenhagen DISEASES database for DCDC2:
    Dyslexia     Writing disorder

    DCDC2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): DCDC2
    Human Genome Epidemiology (HuGE) Navigator: DCDC2 (21 documents)

    Export disorders for DCDC2 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 DCDC2 gene, integrated from 10 sources (see all 44):
    (articles sorted by number of sources associating them with DCDC2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain. (PubMed id 10574461)1, 2, 3 Hirosawa M.... Ohara O. (DNA Res. 1999)
    2. A new antigen recognized by cytolytic T lymphocytes on a human kidney tumor results from reverse strand transcription. (PubMed id 10601354)1, 2, 3 Van den Eynde B.J.... Boon T. (J. Exp. Med. 1999)
    3. Investigation of the DCDC2 intron 2 deletion/compound short tandem repeat polymorphism in a large German dyslexia sample. (PubMed id 19018237)1, 4, 9 Ludwig K.U....Hoffmann P. (Psychiatr. Genet. 2008)
    4. Whole genome association scan for genetic polymorphisms influencing information processing speed. (PubMed id 21130836)1, 4 Luciano M....Deary I.J. (Biol Psychol 2011)
    5. Genetic associations of brain structural networks in schizophrenia: a preliminary study. (PubMed id 20691427)1, 4 Jagannathan K....Pearlson G.D. (Biol. Psychiatry 2010)
    6. A pilot multivariate parallel ICA study to investigate differential linkage between neural networks and genetic profiles in schizophrenia. (PubMed id 19944766)1, 4 Meda S.A....Pearlson G.D. (Neuroimage 2010)
    7. Association of reading disabilities with regions marked by acetylated H3 histones in KIAA0319. (PubMed id 19588467)1, 4 Couto J.M....Barr C.L. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010)
    8. Association of attention-deficit/hyperactivity disorder with a candidate region for reading disabilities on chromosome 6p. (PubMed id 19362708)1, 4 Couto J.M....Barr C.L. (Biol. Psychiatry 2009)
    9. The role of gene DCDC2 in German dyslexics. (PubMed id 19238550)1, 4 Wilcke A....Ahnert P. (Ann Dyslexia 2009)
    10. Investigation of interaction between DCDC2 and KIAA0319 in a large German dyslexia sample. (PubMed id 18810304)1, 4 Ludwig K.U....Hoffmann P. (J Neural Transm 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 51473 HGNC: 18141 AceView: DCDC2 Ensembl:ENSG00000146038 euGenes: HUgn51473
    ECgene: DCDC2 H-InvDB: DCDC2

    (According to HUGE)
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    HUGE: KIAA1154

    (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 DCDC2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for DCDC2 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for DCDC2 gene:
    Search GeneIP for patents involving DCDC2

    GeneCards and IP:
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