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Aliases for DCX Gene

Aliases for DCX Gene

  • Doublecortin 2 3 5
  • Lissencephalin-X 3 4
  • Doublecortex 2 3
  • Doublin 3 4
  • Lis-X 3 4
  • DBCN 3 4
  • LISX 3 4
  • Doublecortex; Lissencephaly, X-Linked (Doublecortin) 2
  • Neuronal Migration Protein Doublecortin 3
  • SCLH 3
  • XLIS 3
  • DC 3

External Ids for DCX Gene

Previous GeneCards Identifiers for DCX Gene

  • GC0XM105840
  • GC0XM107683
  • GC0XM108562
  • GC0XM109300
  • GC0XM110343
  • GC0XM110423
  • GC0XM110537
  • GC0XM100159

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 Lissencephaly, X-Linked and Subcortical Band Heterotopia. Among its related pathways are Developmental Biology and Neuroscience. GO annotations related to this gene include protein kinase binding and calmodulin binding. An important paralog of this gene is DCLK1.

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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DCX Gene

Genomics for DCX Gene

Regulatory Elements for DCX Gene

Enhancers for DCX Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XG111465 0.4 ENCODE 11.7 -53.4 -53363 0.9 ZNF146 DCX HMGB1P12 LINC00890
GH0XG111377 0.2 ENCODE 13 +35.1 35052 0.2 DCX GC0XP111369
GH0XG111323 0.4 FANTOM5 3.7 +88.9 88883 0.2 ATF2 DCX PAK3 GC0XP111369 CAPN6
GH0XG111411 0.8 Ensembl ENCODE 0.7 +0.6 600 0.9 MXI1 POLR2A SMARCA4 MAFK DCX GC0XP111369
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DCX on UCSC Golden Path with GeneCards custom track

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

Genomic Location for DCX Gene

Chromosome:
X
Start:
111,293,779 bp from pter
End:
111,412,429 bp from pter
Size:
118,651 bases
Orientation:
Minus strand

Genomic View for DCX Gene

Genes around DCX on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DCX Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DCX Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DCX Gene

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:
    365 amino acids
    Molecular mass:
    40574 Da
    Quaternary structure:
    • Interacts with tubulin (PubMed:27292316). Interacts with USP9X (PubMed:24607389).
    SequenceCaution:
    • Sequence=EAX02642.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=EAX02644.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=EAX02649.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for DCX Gene

    Alternative splice isoforms for DCX Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DCX Gene

Post-translational modifications for DCX Gene

  • Phosphorylation by MARK1, MARK2 and PKA regulates its ability to bind microtubules (By similarity). Phosphorylation at Ser-265 and Ser-297 seems to occur only in neonatal brain, the levels falling precipitously by postnatal day 21 (By similarity).
  • Ubiquitinated by MDM2, leading to its degradation by the proteasome. Ubiquitinated by MDM2 and subsequent degradation leads to reduce the dendritic spine density of olfactory bulb granule cells.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for DCX Gene

Domains & Families for DCX Gene

Gene Families for DCX Gene

Protein Domains for DCX Gene

Suggested Antigen Peptide Sequences for DCX Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot 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:0005515 protein binding IPI 21044950
GO:0008017 microtubule binding IMP 27292316
GO:0019901 protein kinase binding IPI 14741102
genes like me logo Genes that share ontologies with DCX: view
genes like me logo Genes that share phenotypes with DCX: view

Human Phenotype Ontology for DCX Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DCX Gene

MGI Knock Outs for DCX:

Animal Model Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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 UniProtKB:Q9ESI7}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DCX gene
Compartment Confidence
cytoskeleton 5
cytosol 5
nucleus 4
extracellular 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for DCX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton TAS 11001923
GO:0005874 microtubule IEA --
genes like me logo Genes that share ontologies with DCX: view

Pathways & Interactions for DCX Gene

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

Pathways by source for DCX Gene

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

SIGNOR curated interactions for DCX Gene

Is activated by:

Gene Ontology (GO) - Biological Process for DCX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001764 neuron migration IDA 14741102
GO:0007275 multicellular organism development IEA --
GO:0007399 nervous system development TAS 9489699
GO:0007417 central nervous system development TAS 9489699
GO:0007420 brain development IEA --
genes like me logo Genes that share ontologies with DCX: view

Drugs & Compounds for DCX Gene

(4) Drugs for DCX Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0

(1) Additional Compounds for DCX Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with DCX: view

Transcripts for DCX Gene

Unigene Clusters for DCX Gene

Doublecortin:
Representative Sequences:

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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) (x5.8), Brain - Frontal Cortex (BA9) (x5.4), Brain - Nucleus accumbens (basal ganglia) (x5.2), Brain - Amygdala (x5.0), Brain - Caudate (basal ganglia) (x4.9), Brain - Putamen (basal ganglia) (x4.8), Brain - Hypothalamus (x4.8), and Brain - Cortex (x4.4).

Protein differential expression in normal tissues from HIPED for DCX Gene

This gene is overexpressed in Fetal Brain (68.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DCX Gene



Protein tissue co-expression partners for DCX Gene

NURSA nuclear receptor signaling pathways regulating expression of DCX Gene:

DCX

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.

Evidence on tissue expression from TISSUES for DCX Gene

  • Nervous system(5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DCX Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • head
Thorax:
  • chest wall
Abdomen:
  • abdominal wall
Pelvis:
  • penis
Limb:
  • lower limb
  • upper limb
General:
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns 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 34 35
  • 99.92 (n)
cow
(Bos Taurus)
Mammalia DCX 34 35
  • 95.56 (n)
dog
(Canis familiaris)
Mammalia DCX 34 35
  • 94.54 (n)
mouse
(Mus musculus)
Mammalia Dcx 34 16 35
  • 89.72 (n)
rat
(Rattus norvegicus)
Mammalia Dcx 34
  • 88.98 (n)
oppossum
(Monodelphis domestica)
Mammalia DCX 35
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves DCX 34 35
  • 85.09 (n)
lizard
(Anolis carolinensis)
Reptilia DCX 35
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dcx 34
  • 79.61 (n)
zebrafish
(Danio rerio)
Actinopterygii si:ch73-290k24.1 35
  • 27 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG17528 35
  • 18 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea zyg-8 35
  • 16 (a)
OneToMany
Species where no ortholog for DCX was found in the sources mined by GeneCards:
  • 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

Paralogs for DCX Gene

(2) 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
rs104894779 Pathogenic, Lissencephaly, X-linked 1 (LISX1) [MIM:300067], Subcortical band heterotopia X-linked (SBHX) [MIM:300067] 111,410,215(-) ATGGG(A/G)ACCGC reference, missense
rs104894780 Pathogenic, Lissencephaly, X-linked 1 (LISX1) [MIM:300067], Subcortical band heterotopia X-linked (SBHX) [MIM:300067] 111,401,121(-) AGCCT(C/T)GGAAG reference, missense
rs104894781 Pathogenic, Lissencephaly, X-linked 1 (LISX1) [MIM:300067], Subcortical band heterotopia X-linked (SBHX) [MIM:300067] 111,401,322(-) AAAGC(C/T)ATGTC reference, missense
rs104894782 Pathogenic, Lissencephaly, X-linked 1 (LISX1) [MIM:300067], Subcortical band heterotopia X-linked (SBHX) [MIM:300067] 111,401,087(-) GAAGA(A/C/G)AGCCC reference, missense
rs104894783 Pathogenic, Lissencephaly, X-linked 1 (LISX1) [MIM:300067], Subcortical band heterotopia X-linked (SBHX) [MIM:300067] 111,410,260(-) CACTG(A/C)GTAAT reference, missense

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

Variant ID Type Subtype PubMed ID
esv2677714 CNV deletion 23128226
esv3361732 OTHER inversion 20981092
esv3574303 CNV loss 25503493
esv3574304 CNV loss 25503493
esv3577045 CNV gain 25503493
esv3577046 CNV gain 25503493
nsv1110833 CNV insertion 24896259
nsv7038 CNV insertion 18451855

Variation tolerance for DCX Gene

Residual Variation Intolerance Score: 17.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.42; 9.30% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DCX Gene

Human Gene Mutation Database (HGMD)
DCX
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DCX

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DCX Gene

Disorders for DCX Gene

MalaCards: The human disease database

(26) MalaCards diseases for DCX Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
lissencephaly, x-linked
  • subcortical laminar heterotopia
subcortical band heterotopia
  • dc
dcx-related disorders
  • subcortical band heterotopia
lissencephaly
band heterotopia
  • band heterotopia of brain
- elite association - COSMIC cancer census association via MalaCards
Search DCX in MalaCards View complete list of genes associated with diseases

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:27292316, 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.
  • Note=A chromosomal aberration involving DCX is found in lissencephaly. Translocation t(X;2)(q22.3;p25.1).
  • 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.

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

Genetic Association Database (GAD)
DCX
Human Genome Epidemiology (HuGE) Navigator
DCX
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 22 64
  2. The DCX-domain tandems of doublecortin and doublecortin-like kinase. (PMID: 12692530) Kim M.H. … Derewenda Z.S. (Nat. Struct. Biol. 2003) 3 4 22 64
  3. 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 22 64
  4. Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1. (PMID: 10441340) Pilz D.T. … Ledbetter D.H. (Hum. Mol. Genet. 1999) 3 4 22 64
  5. A novel CNS gene required for neuronal migration and involved in X- linked subcortical laminar heterotopia and lissencephaly syndrome. (PMID: 9489699) Des Portes V. … Chelly J. (Cell 1998) 2 3 4 64

Products for DCX Gene

  • Addgene plasmids for DCX

Sources for DCX Gene

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