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FLASH GENE
Symbol DCX contributors: shn/npt - updated : 20-10-2015
HGNC name doublecortin
HGNC id 2714
Corresponding disease
DCX lissencephaly syndrome 2 (or smooth brain)
Location Xq22.3      Physical location : 110.537.007 - 110.655.460
Synonym name
  • doublecortex; lissencephaly, X-linked (doublecortin)
  • doublin
  • neuronal migration protein doublecortin
  • Synonym symbol(s) KIAA0369, SCLH, XLIS, DBCN, RP5-914P14.1, DC
    DNA
    TYPE functioning gene
    STRUCTURE 118.40 kb     7 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    motif repetitive sequence
    text structure repeat tubulin-binding motif
    MAPPING cloned Y linked N status provisional
    Map cen - DXS1105 - DXS1210 - DCX DCX - DXS8110 - DXS1059 - qter
    Physical map
    DSIPI Xq22.3 delta sleep inducing peptide, immunoreactor LOC392517 X similar to dJ820B18.1 (similar to nuclear cap binding protein) MID2 Xq22 midline 2 NOD13 Xq22.3 NOD13 pseudogene TEX13B Xq23 testis expressed sequence 13B MGC44287 Xq22.3 hypothetical protein MGC44287 PSMD10 Xq22.3 proteasome (prosome, macropain) 26S subunit, non-ATPase, 10 AUTL2 Xq22.1-q22.3 AUT-like 2, cysteine endopeptidase (S. cerevisiae) COL4A6 Xq22.3 collagen, type IV, alpha 6 COL4A5 Xq22.3 collagen, type IV, alpha 5 (Alport syndrome) IRS4 Xq22.3 insulin receptor substrate 4 LOC392519 X similar to Glyceraldehyde 3-phosphate dehydrogenase (GAPDH) GUCY2F Xq22 guanylate cyclase 2F, retinal NXT2 Xq22.3 nuclear transport factor 2-like export factor 2 LOC347537 Xq23 similar to mitofusin 1 isoform 1 KCNE1L Xq22.3 potassium voltage-gated channel, Isk-related family, member 1-like FACL4 Xq22.3-q23 fatty-acid-Coenzyme A ligase, long-chain 4 LOC392520 X similar to ribosomal protein S5 FLJ22679 Xq22.3 hypothetical protein FLJ22679 AMMECR1 Xq22.3 Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region, gene 1 GNG5ps Xq23 G protein gamma 5-like subunit KIAA1318 Xq23 KIAA1318 protein NRLN1 PAK3 Xq22.33-q23 p21 (CDKN1A)-activated kinase 3 CAPN6 Xq23 calpain 6 DCX Xq22.3-q23 doublecortex; lissencephaly, X-linked (doublecortin) LOC392521 X similar to High mobility group protein 1-like 10 (HMG-1L10) LOC389880 X hypothetical gene supported by AB076839; NM_001417 LOC392522 X similar to 60S ribosomal protein L18a MDS031 Xq23 uncharacterized hematopoietic stem/progenitor cells protein MDS031 FLJ23018 Xq23 hypothetical protein FLJ23018 TRPC5 Xq23-q24 transient receptor potential cation channel, subfamily C, member 5 LOC389881 X similar to hypothetical protein FLJ13646 LOC340595 Xq23 similar to zinc finger, CCHC domain containing 5 LHFPL1 Xq23 lipoma HMGIC fusion partner-like 1 LOC203510 Xq23 similar to high mobility group protein homolog HMG4 AMOT Xq23 angiomotin LOC139466 Xq23 peptidyl prolyl isomerase H (cyclophilin H) pseudogene LOC286528 Xq24 similar to HSPC182 protein HTR2C Xq24 5-hydroxytryptamine (serotonin) receptor 2C
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    7 - 9406 49.3 441 - -
    7 splicing 9069 40.5 365 - -
    7 splicing 9054 40 360 - -
    7 splicing 9122 40 360 - -
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrainforebraincerebral lobefrontalspecific
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo, fetal, pregnancy
    Text eye, brain including the developing cerebral cortex (neuronal cells)
    PROTEIN
    PHYSICAL PROPERTIES Hydrophilic
    STRUCTURE
    motifs/domains
  • doublecortin-like (DC) domain (two tandemly repeated 80 amino acid regions at the N terminal region) constituting novel microtubule-binding modules
  • an Abl phosphorylation site
  • a kinase-domain in addition to a doublecortin-like domain
  • a short serine-rich C terminal domain homologous to rat calcium/calmodulin-dependent kinase
  • conjugated PhosphoP
    HOMOLOGY
    interspecies ortholog to DCX, Pan troglodytes
    homolog to dclk2, Danio rerio
    ortholog to Dcx, mus musculus
    ortholog to Dcx, Rattus norvegicus
    Homologene
    FAMILY
    CATEGORY signaling
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule
    text microtubule associated protein
    basic FUNCTION
  • involved in calcium dependent signaling of neuronal migration, in binding and stabilization of microtubules
  • may direct neuronal migration by regulating the organization and stability of microtubules
  • likely required for neural migration from the ventricular zone to the developing cortex and differentiation
  • in addition to vesicular trafficking, may play a role in the regulation of cell adhesion via its interaction with USP9X in migrating and differentiating neurons
  • acting as a molecular link between microtubule and actin cytoskeletal filaments that is regulated by phosphorylation and PPP1R9B
  • required for nuclear translocation and maintenance of bipolar morphology during migration of the cells and have a critical function in the movement of newly generated neurons in the adult brain
  • have important functions in the major migratory pathway in the developing forebrain (Bai 2008)
  • is essential for the function of KIF1A, a kinesin-3 motor protein that traffics synaptic vesicles
  • role for DCX and DCLK1 in enabling microtubules to overcome retrograde actin-based forces, thereby facilitating the ability of the growth cone to carry out its crucial path-finding functions
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule other,
  • phosphorylated by Cdk5
  • protein
  • PAFAH1B1, tubulin and microtubules
  • AP1, AP2 for protein sorting or vesicular trafficking
  • ubiquitin specific peptidase 9, X-linked (USP9X)
  • adaptor-related protein complex 1, mu 1 subunit (AP1M1)
  • adaptor-related protein complex 2, mu 1 subunit (AP2M1)
  • neurofascin homolog (chicken) (NFASC)
  • protein phosphatase 1, regulatory (inhibitor) subunit 9B (PPP1R9B)
  • direct REST target gene containing a canonical RE1 site and REST binds to this site efficiently at the NS/P stage
  • DCX is likely one relevant DYRK1A, DYRK3, DYRK4 target
  • DCX is essential for the function of KIF1A, a kinesin-3 motor protein that traffics synaptic vesicles
  • cell & other
  • microtubule associated
  • REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DCX
    Susceptibility
    Variant & Polymorphism
    Candidate gene marker to distinguish articular chondrocytes from other chondrocytes and to evaluate the quality of tissue engineered or regenerated cartilage in terms of their "articular" or "non-articular" nature
    Marker
    Therapy target
  • In a rat model of subcortical band heterotopia (SBH) generated by in utero RNA interference of the Dcx gene, aberrantly positioned neurons can be stimulated to migrate by reexpressing Dcx after birth
  • ANIMAL & CELL MODELS
  • Overexpression of DCX gene in heterologous cells leads to a dramatic microtubule phenotype that is resistant to depolymerization
  • deletion of Dcx in mice does not cause neocortical malformation while RNAi of Dcx causes both cell-autonomous and non-cell autonomous disruptions in radial migration, and creates two disruptions in neocortical development