DCX
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, cognitive disability, 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].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
---|---|---|---|---|---|
doublecortin | MIM:300121 | Ensembl:ENSG00000077279 | HGNC:HGNC:2714 | PA27184 | Xq23 |
GO terms in DCX
Term Type | Evidence Type | GO Term ID | GO Des. |
---|---|---|---|
BP | IDA | GO:0001764 | neuron migration |
BP | TAS | GO:0007399 | nervous system development |
BP | TAS | GO:0007417 | central nervous system development |
BP | IBA | GO:0035082 | axoneme assembly |
BP | IEA | GO:0035556 | intracellular signal transduction |
BP | IBA | GO:0042461 | photoreceptor cell development |
BP | IBA | GO:0060041 | retina development in camera-type eye |
CC | IDA | GO:0005829 | cytosol |
CC | TAS | GO:0005829 | cytosol |
CC | TAS | GO:0005856 | cytoskeleton |
CC | IEA | GO:0005874 | microtubule |
CC | TAS | GO:0005875 | microtubule associated complex |
CC | IBA | GO:0005930 | axoneme |
CC | IDA | GO:0043005 | neuron projection |
MF | IPI | GO:0005515 | protein binding |
MF | IDA | GO:0008017 | microtubule binding |
MF | IMP | GO:0008017 | microtubule binding |
MF | IPI | GO:0019901 | protein kinase binding |
Gene expression in normal tissue: DCX
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in DCX
Database | Pathway ID | Pathway Des. |
---|---|---|
reactome | R-HSA-1266738 | Developmental Biology |
reactome | R-HSA-373760 | L1CAM interactions |
reactome | R-HSA-422475 | Axon guidance |
reactome | R-HSA-447043 | Neurofascin interactions |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in DCX