Homo sapiens Gene: DCX
Summary
InnateDB Gene IDBG-82703.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol DCX
Gene Name doublecortin
Synonyms DBCN; DC; LISX; SCLH; XLIS
Species Homo sapiens
Ensembl Gene ENSG00000077279
Encoded Proteins
doublecortin
doublecortin
doublecortin
doublecortin
doublecortin
doublecortin
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
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]
Gene Information
Type Protein coding
Genomic Location Chromosome X:111293780-111412375
Strand Reverse strand
Band q23
Transcripts
ENST00000371993 ENSP00000361061
ENST00000356220 ENSP00000348553
ENST00000358070 ENSP00000350776
ENST00000338081 ENSP00000337697
ENST00000488120 ENSP00000419861
ENST00000496551
ENST00000468911 ENSP00000418811
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 19 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.
Experimentally validated
Total 19 [view]
Protein-Protein 19 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 4 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0008017 microtubule binding
GO:0019901 protein kinase binding
Biological Process
GO:0001764 neuron migration
GO:0007399 nervous system development
GO:0007411 axon guidance
GO:0007417 central nervous system development
GO:0007420 brain development
GO:0021952 central nervous system projection neuron axonogenesis
GO:0035556 intracellular signal transduction
GO:0048675 axon extension
GO:0048813 dendrite morphogenesis
Cellular Component
GO:0005622 intracellular
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005874 microtubule
GO:0005875 microtubule associated complex
GO:0043005 neuron projection
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Neurofascin interactions pathway
L1CAM interactions pathway
Developmental Biology pathway
Axon guidance pathway
KEGG
INOH
PID NCI
Lissencephaly gene (LIS1) in neuronal migration and development
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.34780 Hs.607729
RefSeq NM_000555 NM_001195553 NM_178151 NM_178152 NM_178153 XM_005262091
HUGO
OMIM
CCDS CCDS14556 CCDS14557 CCDS14558
HPRD 02127
IMGT
EMBL
GenPept
RNA Seq Atlas