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Aliases for DCX Gene

Aliases for DCX Gene

  • Doublecortin 2 3
  • DBCN 3 4 6
  • LISX 3 4 6
  • Lissencephalin-X 3 4
  • Doublecortex 2 3
  • Doublin 3 4
  • Lis-X 3 4
  • Doublecortex; Lissencephaly, X-Linked (Doublecortin) 2
  • Neuronal Migration Protein Doublecortin 3
  • SCLH 3
  • XLIS 3
  • DC 3

External Ids for DCX Gene

Summaries for DCX Gene

Entrez Gene Summary for DCX Gene

  • This gene encodes a member of the doublecortin family. The protein encoded by this gene is a cytoplasmic protein and contains two doublecortin domains, which bind microtubules. In the developing cortex, cortical neurons must migrate over long distances to reach the site of their final differentiation. The encoded protein appears to direct neuronal migration by regulating the organization and stability of microtubules. In addition, the encoded protein interacts with LIS1, the regulatory gamma subunit of platelet activating factor acetylhydrolase, and this interaction is important to proper microtubule function in the developing cortex. Mutations in this gene cause abnormal migration of neurons during development and disrupt the layering of the cortex, leading to epilepsy, mental retardation, subcortical band heterotopia ("double cortex" syndrome) in females and lissencephaly ("smooth brain" syndrome) in males. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2010]

GeneCards Summary for DCX Gene

DCX (Doublecortin) is a Protein Coding gene. Diseases associated with DCX include dcx-related disorders and lissencephaly, x-linked. Among its related pathways are L1CAM interactions and TGF-Beta Pathway. GO annotations related to this gene include protein kinase binding and microtubule binding. An important paralog of this gene is CAMK2D.

UniProtKB/Swiss-Prot for DCX Gene

  • Microtubule-associated protein required for initial steps of neuronal dispersion and cortex lamination during cerebral cortex development. May act by competing with the putative neuronal protein kinase DCLK1 in binding to a target protein. May in that way participate in a signaling pathway that is crucial for neuronal interaction before and during migration, possibly as part of a calcium ion-dependent signal transduction pathway. May be part with PAFAH1B1/LIS-1 of overlapping, but distinct, signaling pathways that promote neuronal migration.

Gene Wiki entry for DCX Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DCX Gene

Genomics for DCX Gene

Genomic Location for DCX Gene

Start:
111,293,779 bp from pter
End:
111,412,375 bp from pter
Size:
118,597 bases
Orientation:
Minus strand

Genomic View for DCX Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DCX Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DCX Gene

Regulatory Elements for DCX Gene

Transcription factor binding sites by QIAGEN in the DCX gene promoter:

Proteins for DCX Gene

  • Protein details for DCX Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43602-DCX_HUMAN
    Recommended name:
    Neuronal migration protein doublecortin
    Protein Accession:
    O43602
    Secondary Accessions:
    • A6NFY6
    • A9Z1V8
    • D3DUY8
    • D3DUY9
    • D3DUZ0
    • O43911
    • Q5JYZ5

    Protein attributes for DCX Gene

    Size:
    441 amino acids
    Molecular mass:
    49318 Da
    Quaternary structure:
    • Interacts with tubulin. Interacts with USP9X.

    Three dimensional structures from OCA and Proteopedia for DCX Gene

    Alternative splice isoforms for DCX Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DCX Gene

Proteomics data for DCX Gene at MOPED

Post-translational modifications for DCX Gene

  • Phosphorylation at Ser-346 and Ser-378 seems to occur only in neonatal brain, the levels falling precipitously by postnatal day 21.
  • Phosphorylation by MARK1, MARK2 and PKA regulates its ability to bind microtubules.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DCX Gene

No data available for DME Specific Peptides for DCX Gene

Domains for DCX Gene

Protein Domains for DCX Gene

UniProtKB/Swiss-Prot:

DCX_HUMAN
Domain:
  • Contains 2 doublecortin domains.:
    • O43602
genes like me logo Genes that share domains with DCX: view

No data available for Gene Families for DCX Gene

Function for DCX Gene

Molecular function for DCX Gene

GENATLAS Biochemistry: doublecortin,microtubule associated protein,brain specific,intracellular signaling molecule,likely required for neural migration from the ventricular zone to the developing cortex and differentiation,involved in calcium dependent signaling of neuronal migration,expressed in multiple regions of embryonic brain including the developing cerebral cortex
UniProtKB/Swiss-Prot Function: Microtubule-associated protein required for initial steps of neuronal dispersion and cortex lamination during cerebral cortex development. May act by competing with the putative neuronal protein kinase DCLK1 in binding to a target protein. May in that way participate in a signaling pathway that is crucial for neuronal interaction before and during migration, possibly as part of a calcium ion-dependent signal transduction pathway. May be part with PAFAH1B1/LIS-1 of overlapping, but distinct, signaling pathways that promote neuronal migration.

Gene Ontology (GO) - Molecular Function for DCX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004683 calmodulin-dependent protein kinase activity IBA --
GO:0005515 protein binding IPI 21516116
GO:0005516 calmodulin binding IBA --
GO:0008017 microtubule binding IDA 14741102
GO:0009931 calcium-dependent protein serine/threonine kinase activity IBA --
genes like me logo Genes that share ontologies with DCX: view
genes like me logo Genes that share phenotypes with DCX: view

Animal Models for DCX Gene

MGI Knock Outs for DCX:

miRNA for DCX Gene

miRTarBase miRNAs that target DCX

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for DCX Gene

Localization for DCX Gene

Subcellular locations from UniProtKB/Swiss-Prot for DCX Gene

Cytoplasm. Cell projection. Note=Localizes at neurite tips. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DCX Gene COMPARTMENTS Subcellular localization image for DCX gene
Compartment Confidence
cytoskeleton 4
cytosol 4
nucleus 3
extracellular 1

Gene Ontology (GO) - Cellular Components for DCX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular --
GO:0005634 nucleus IBA --
GO:0005737 cytoplasm IBA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton TAS 11001923
genes like me logo Genes that share ontologies with DCX: view

Pathways for DCX Gene

genes like me logo Genes that share pathways with DCX: view

Pathways by source for DCX Gene

1 Qiagen pathway for DCX Gene
2 Cell Signaling Technology pathways for DCX Gene

Gene Ontology (GO) - Biological Process for DCX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001764 neuron migration IDA 14741102
GO:0007399 nervous system development TAS 9489699
GO:0007411 axon guidance TAS --
GO:0007417 central nervous system development TAS 9489699
GO:0007420 brain development IEA --
genes like me logo Genes that share ontologies with DCX: view

Compounds for DCX Gene

(1) HMDB Compounds for DCX Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2

(5) Novoseek inferred chemical compound relationships for DCX Gene

Compound -log(P) Hits PubMed IDs
bromodeoxyuridine 67.2 14
kainate 24.8 2
calcium 0 1
serine 0 1
vegf 0 1
genes like me logo Genes that share compounds with DCX: view

Transcripts for DCX Gene

Unigene Clusters for DCX Gene

Doublecortin:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for DCX Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b · 11c
SP1: - - - -
SP2: -
SP3:
SP4: - - -
SP5: - -
SP6: -

Relevant External Links for DCX Gene

GeneLoc Exon Structure for
DCX
ECgene alternative splicing isoforms for
DCX

Expression for DCX Gene

mRNA expression in normal human tissues for DCX Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DCX Gene

This gene is overexpressed in Brain - Anterior cingulate cortex (BA24) (5.8), Brain - Frontal Cortex (BA9) (5.4), Brain - Nucleus accumbens (basal ganglia) (5.2), Brain - Amygdala (5.0), Brain - Caudate (basal ganglia) (4.9), Brain - Putamen (basal ganglia) (4.8), Brain - Hypothalamus (4.8), and Brain - Cortex (4.4).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for DCX Gene

SOURCE GeneReport for Unigene cluster for DCX Gene Hs.34780

mRNA Expression by UniProt/SwissProt for DCX Gene

O43602-DCX_HUMAN
Tissue specificity: Highly expressed in neuronal cells of fetal brain (in the majority of cells of the cortical plate, intermediate zone and ventricular zone), but not expressed in other fetal tissues. In the adult, highly expressed in the brain frontal lobe, but very low expression in other regions of brain, and not detected in heart, placenta, lung, liver, skeletal muscles, kidney and pancreas
genes like me logo Genes that share expressions with DCX: view

Orthologs for DCX Gene

This gene was present in the common ancestor of animals.

Orthologs for DCX Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DCX 36
  • 99.92 (n)
  • 99.77 (a)
DCX 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DCX 36
  • 95.56 (n)
  • 99.44 (a)
DCX 37
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DCX 36
  • 94.54 (n)
  • 99.72 (a)
DCX 37
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dcx 36
  • 89.72 (n)
  • 99.44 (a)
Dcx 16
Dcx 37
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DCX 37
  • 71 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dcx 36
  • 88.98 (n)
  • 99.72 (a)
chicken
(Gallus gallus)
Aves DCX 36
  • 85.09 (n)
  • 96.39 (a)
DCX 37
  • 93 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DCX 37
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dcx 36
  • 79.61 (n)
  • 91.9 (a)
zebrafish
(Danio rerio)
Actinopterygii si:ch73-290k24.1 37
  • 27 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG17528 37
  • 18 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea zyg-8 37
  • 16 (a)
OneToMany
Species with no ortholog for DCX:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DCX Gene

ENSEMBL:
Gene Tree for DCX (if available)
TreeFam:
Gene Tree for DCX (if available)

Paralogs for DCX Gene

Selected SIMAP similar genes for DCX Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with DCX: view

Variants for DCX Gene

Sequence variations from dbSNP and Humsavar for DCX Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs718563 -- 111,334,844(+) AGGAT(A/G)AGATT intron-variant
rs992034 -- 111,337,497(+) ACATG(A/G)GGAAA intron-variant
rs1046944 -- 111,301,181(-) TCACT(C/T)TTCAC utr-variant-3-prime
rs1046945 -- 111,301,150(-) TGTTG(A/T)CCAGC utr-variant-3-prime
rs1046946 -- 111,301,131(-) TGGCT(A/G)TCAAT utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for DCX Gene

Variant ID Type Subtype PubMed ID
esv2677714 CNV Deletion 23128226
nsv7038 CNV Insertion 18451855

Relevant External Links for DCX Gene

HapMap Linkage Disequilibrium report
DCX
Human Gene Mutation Database (HGMD)
DCX

Disorders for DCX Gene

(1) OMIM Diseases for DCX Gene (300121)

UniProtKB/Swiss-Prot

DCX_HUMAN
  • Lissencephaly, X-linked 1 (LISX1) [MIM:300067]: A classic lissencephaly characterized by mental retardation and seizures that are more severe in male patients. Affected boys show an abnormally thick cortex with absent or severely reduced gyri. Clinical manifestations include feeding problems, abnormal muscular tone, seizures and severe to profound psychomotor retardation. Female patients display a less severe phenotype referred to as doublecortex. {ECO:0000269 PubMed:11468322, ECO:0000269 PubMed:12552055, ECO:0000269 PubMed:9489699, ECO:0000269 PubMed:9489700, ECO:0000269 PubMed:9668176, ECO:0000269 PubMed:9817918}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Subcortical band heterotopia X-linked (SBHX) [MIM:300067]: SBHX is a mild brain malformation of the lissencephaly spectrum. It is characterized by bilateral and symmetric plates or bands of gray matter found in the central white matter between the cortex and cerebral ventricles, cerebral convolutions usually appearing normal. {ECO:0000269 PubMed:10369164, ECO:0000269 PubMed:10441340, ECO:0000269 PubMed:10807542, ECO:0000269 PubMed:11175293, ECO:0000269 PubMed:11601509, ECO:0000269 PubMed:12390976, ECO:0000269 PubMed:9618162, ECO:0000269 PubMed:9989615}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=A chromosomal aberration involving DCX is found in lissencephaly. Translocation t(X;2)(q22.3;p25.1).

(27) Novoseek inferred disease relationships for DCX Gene

Disease -log(P) Hits PubMed IDs
lissencephaly, x-linked 96.9 22
lissencephaly sequence, isolated 86.7 7
periventricular nodular heterotopia 83.1 1
cerebellar hypoplasia 75.9 1
epilepsy 59.7 9

Genatlas disease for DCX Gene

lissencephaly syndrome 2 (or smooth brain),neuronal migration disorder resulting,associated with agenesis of corpus callosum,resulting in mixed agyria and pachygyria associated with agenesis of corpus callosum,characterized by epilepsy and mental retardation,including mild form in heterozygote female with mental retardation and subcortical band heterotopia (double cortex)

Relevant External Links for DCX

GeneTests
DCX
GeneReviews
DCX
Genetic Association Database (GAD)
DCX
Human Genome Epidemiology (HuGE) Navigator
DCX
genes like me logo Genes that share disorders with DCX: view

Publications for DCX Gene

  1. Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein. (PMID: 9489700) Gleeson J.G. … Walsh C.A. (Cell 1998) 2 3 4 23
  2. Doublecortin is the major gene causing X-linked subcortical laminar heterotopia (SCLH). (PMID: 9618162) Des Portes V. … Beldjord C. (Hum. Mol. Genet. 1998) 3 4 23
  3. Human doublecortin (DCX) and the homologous gene in mouse encode a putative Ca2+-dependent signaling protein which is mutated in human X- linked neuronal migration defects. (PMID: 9668176) Sossey-Alaoui K. … Srivastava A.K. (Hum. Mol. Genet. 1998) 3 4 23
  4. LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation. (PMID: 9817918) Pilz D.T. … Ross M.E. (Hum. Mol. Genet. 1998) 3 4 23
  5. Characterization of mutations in the gene doublecortin in patients with double cortex syndrome. (PMID: 9989615) Gleeson J.G. … Walsh C.A. (Ann. Neurol. 1999) 3 4 23

Products for DCX Gene

  • Addgene plasmids for DCX

Sources for DCX Gene

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