Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1641
Gene name Gene Name - the full gene name approved by the HGNC.
Doublecortin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DCX
Synonyms (NCBI Gene) Gene synonyms aliases
DBCN, DC, LISX, SCLH, XLIS
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xq23
Summary Summary of gene provided in NCBI Entrez 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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs56030372 C>A,T Pathogenic, uncertain-significance Coding sequence variant, missense variant
rs61729440 C>G Pathogenic Coding sequence variant, missense variant
rs104894779 C>T Pathogenic Coding sequence variant, missense variant
rs104894780 G>A Pathogenic Coding sequence variant, missense variant
rs104894781 A>G Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT001070 hsa-miR-128-3p Luciferase reporter assay 19713529
MIRT001070 hsa-miR-128-3p Luciferase reporter assay 19713529
MIRT001070 hsa-miR-128-3p qRT-PCR, Western blot 19713529
MIRT001070 hsa-miR-128-3p qRT-PCR, Western blot 19713529
MIRT001070 hsa-miR-128-3p Luciferase reporter assay 19713529
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001764 Process Neuron migration IDA 14741102
GO:0005515 Function Protein binding IPI 21044950, 21516116, 24607389, 25416956, 31515488
GO:0005829 Component Cytosol TAS
GO:0005856 Component Cytoskeleton TAS 11001923
GO:0005874 Component Microtubule IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
300121 2714 ENSG00000077279
Protein
UniProt ID O43602
Protein name Neuronal migration protein doublecortin (Doublin) (Lissencephalin-X) (Lis-X)
Protein 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 i
PDB 1MJD , 2BQQ , 2XRP , 4ATU , 5IKC , 5IN7 , 5IO9 , 5IOI , 5IP4 , 6FNZ , 6REV , 6RF2 , 6RF8 , 6RFD
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03607 DCX 71 133 Doublecortin Family
PF03607 DCX 198 257 Doublecortin Family
Tissue specificity 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 l
Sequence
MELDFGHFDERDKTSRNMRGSRMNGLPSPTHSAHCSFYRTRTLQALSNEKKAKKVRFYRN
GDRYFKGIVYAVSSDRFRSFDALLADLTRSLSDNINLPQGVRYIYTIDGSRKIGSMDELE
EGESYVCSSDNFF
KKVEYTKNVNPNWSVNVKTSANMKAPQSLASSNSAQARENKDFVRPK
LVTIIRSGVKPRKAVRVLLNKKTAHSFEQVLTDITEAIKLETGVVKKLYTLDGKQVTCLH
DFFGDDDVFIACGPEKF
RYAQDDFSLDENECRVMKGNPSATAGPKASPTPQKTSAKSPGP
MRRSKSPADSGNDQDANGTSSSQLSTPKSKQSPISTPTSPGSLRKHKDLYLPLSLDDSDS
LGDSM
Sequence length 365
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Agenesis of corpus callosum Agenesis of corpus callosum rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Mental retardation Severe intellectual disability, Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
Lissencephaly Classical Lissencephaly, Lissencephaly type 1 due to doublecortin gene mutation rs137853043, rs137853044, rs137853045, rs137853046, rs137853047, rs137853048, rs137853049, rs137853050, rs121434482, rs121434483, rs1567561137, rs121434485, rs121434486, rs121434487, rs121434489
View all (183 more)
Lissencephaly, x-linked Lissencephaly, X-Linked, 1, Lissencephaly and agenesis of corpus callosum, X-Linked Lissencephaly rs387906492, rs2147324181, rs111033612, rs104894740, rs1328291159, rs104894741, rs267606666, rs398124510, rs587783183, rs587783184, rs587783187, rs587783189, rs587783191, rs587783199, rs587783202
View all (11 more)
11175293, 9817918, 9989615, 29706646, 9668176, 27292316, 12390976, 9489700, 10369164, 9489699, 10807542, 10441340, 11601509, 11468322, 9618162
View all (1 more)
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma Associate 21916995
Adrenoleukodystrophy Associate 36513788
Allanson Pantzar McLeod syndrome Associate 12027577
Band Heterotopia of Brain Associate 12027577
Barrett Esophagus Associate 21916995
Brain Diseases Associate 19050731
Brain Injuries Traumatic Stimulate 21275797
Breast Neoplasms Associate 39232464
Carcinoma Pancreatic Ductal Associate 28883702
Classical Lissencephalies and Subcortical Band Heterotopias Associate 10915612, 12027577, 16100463, 19050731, 23365099, 25140959, 28440899, 38402847, 9489700