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

DCDC2 Gene

protein-coding   GIFtS: 52
GCID: GC06M024122

doublecortin domain containing 2

 Explore 5 diseases affiliated with
DCDC2 via our new
 Human Malady Compendium 
Biological research products
for DCDC2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Doublecortin Domain Containing 21 2     RU2S2
RU21 2 3 5     Doublecortin Domain-Containing Protein 22
KIAA11541 3 5     Protein RU2S3
DCDC2A1 2     

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for DCDC2:
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)

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


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.1  NT_007592.15  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for DCDC2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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:
24,358,280 bp from pter
Size:
186,298 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9UHG0

  • DCDC2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000367715   ENSP00000367711   ENSP00000410939  

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    Uscn Proteins for DCDC2

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----


    DCDC2 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    DCDC2 for domains           About GeneDecksing

    1 InterPro domain/family:
     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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

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

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    1 GenomeRNAi human phenotype for DCDC2:
     Synthetic lethal with Ras 

    Animal Models:
         Mouse knock-out Dcdc2atm1.2Jjlo for DCDC2
         2 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Dcdc2a):
     behavior/neurological  nervous system 

    DCDC2 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for DCDC2

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    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 HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for DCDC2
    Search CenterWatch for drugs/clinical trials and news about DCDC2 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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:
    ENST00000378454(uc003ndx.3 uc003ndy.3) ENST00000378450(uc003ndw.3)
    ENST00000436313

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    hsa-miR-495 hsa-miR-520e hsa-miR-302d hsa-miR-429 hsa-miR-137 hsa-miR-302e hsa-miR-410 hsa-miR-3167
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    Inhib. RNA
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    Additional cDNA 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 

    24/56 AceView cDNA sequences (see all 56):

    AI858903 AF181721 CD722449 BQ644474 AW444617 BF593580 BQ644671 AW150317 
    CR611697 AA127741 BQ650550 NM_016356 BM833169 BQ948660 AA127805 BM927835 
    AA026454 AI219704 BX279966 AW293816 BE139585 N43170 AK027036 AW965006 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    DCDC2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    DCDC2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    KidneyS-shaped BodyKidney
    Neural TubeMetencephalonNeural Tube
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    PureStem™ epithelial progenitor E164 (Embryonic Progenitor Cell)Intermediate Mesoderm, Kidney

    See DCDC2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DCDC2

    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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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DCDC2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for DCDC2 gene from 5/15 species (see all 15)    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 LOC4208211 doublecortin domain-containing protein 2-like 69.15(n)
    63.54(a)
      420821  XM_003640752.1  XP_003640800.1 
    lizard
    (Anolis carolinensis)
    Reptilia DCDC26
    --
    71(a)
    1 ↔ 1
    4(54163384-54198528)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC529702 similar to RU2S 74.55(n)    BC046665.1 
    zebrafish
    (Danio rerio)
    Actinopterygii dcdc2b1 doublecortin domain containing 2B 52.85(n)
    45.94(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)
    About This Section
    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, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/4095 NCBI SNPs in DCDC2 are shown (see all 4095    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs758458471,2
    C,F,--24121549(+) CACAGT/ATTTTT 2 -- ds50012Minor allele frequency- A:0.50WA CSA 4
    rs778391441,2
    C,F,--24121554(+) ATTTTC/TTTCTA 2 -- ds50012Minor allele frequency- T:0.50WA CSA 4
    rs749458871,2
    F,--24121641(+) AAATTG/AGAAGA 2 -- ds50011Minor allele frequency- A:0.03NA 120
    rs413049061,2
    F,--24122402(+) CAGCAT/ATTATG 2 -- ut311Minor allele frequency- A:0.03NA 120
    rs784739541,2
    F,--24122516(+) AAGTGA/GTAAGT 2 -- ut311Minor allele frequency- G:0.02EA 120
    rs413049131,2
    C,F,--24122554(+) CAATTG/ATATCT 2 -- ut311Minor allele frequency- A:0.02NA 120
    rs609473791,2
    C,F,--24122648(+) ATTACC/TCCCTT 2 -- ut311Minor allele frequency- T:0.04WA 118
    rs614311521,2
    C,F,--24122695(+) TAAAAT/CATCAA 2 -- ut311Minor allele frequency- C:0.03WA 118
    rs123332711,2
    C,F,--24122774(+) AAGGAC/TAGGAA 2 -- ut31 ese35Minor allele frequency- T:0.30WA CSA NA 243
    rs123333041,2
    C,F,A,H,--24122839(+) AGAAAC/GAAAAG 2 -- ut318Minor allele frequency- G:0.15NS EA WA CSA 543

    HapMap Linkage Disequilibrium report for DCDC2 (24171983 - 24358280 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 13 variations for DCDC2
         11 CNVs: 7552 81275 81274 93549 7553 93547 93546 93548 62484 81273 64453
         2 Indels: 99465 11274
    Human Gene Mutation Database (HGMD): DCDC2

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    (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.)
    About This Section

    DCDC2 for disorders           About GeneDecksing

    OMIM gene information: 605755    OMIM disorders: --

    UniProtKB/Swiss-Prot: DCDC2_HUMAN, Q9UHG0
  • Defects in DCDC2 may be a cause of susceptibility to dyslexia type 2 (DYX2) [MIM:600202]; also known as
  • specific reading disability type 2. Dyslexia is a relatively common, complex cognitive disorder that affects 5% to 10%
    of school-aged children. The disorder is characterized by an impairment of reading performance despite adequate
    motivational, educational and intellectual opportunities and in the absence of sensory or neurological disability

    5 diseases for DCDC2:    About MalaCards
    dyslexia    attention deficit hyperactivity disorder    cerebritis    schizophrenia
    neuronitis

    2 diseases from the University of Copenhagen DISEASES database for DCDC2:
    Dyslexia     Writing disorder
    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)
    About This Section

    PubMed articles for DCDC2 gene, integrated from 9 sources (see all 43):
    (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. (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. (1999)
    3. DCDC2 is associated with reading disability and modulates neuronal development in the brain. (PubMed id 16278297)1, 2 Meng H....Gruen J.R. (2005)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (2003)
    6. Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PubMed id 12168954)1, 2 Nakajima D.... Nagase T. (2002)
    7. Investigation of the DCDC2 intron 2 deletion/compound short tandem repeat polymorphism in a large German dyslexia sample. (PubMed id 19018237)1, 9 Ludwig K.U....Hoffmann P. (2008)
    8. Meta-analysis of the association between DCDC2 polymor phisms and risk of dyslexia. (PubMed id 23229871)1 Zhong R....Miao X. (2013)
    9. Exploring the transcriptome of ciliated cells using in silico dissection of human tissues. (PubMed id 22558177)1 Ivliev A.E....Sergeeva M.G. (2012)
    10. Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction. (PubMed id 22837378)1 Wilk J.B....Stricker B.H. (2012)

    (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)
    About This Section
    Entrez Gene: 51473 HGNC: 18141 AceView: DCDC2 Ensembl:ENSG00000146038 euGenes: HUgn51473
    ECgene: DCDC2 H-InvDB: DCDC2

    (According to HUGE)
    About This Section
    HUGE: KIAA1154

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for 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

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