Gene Gene information from NCBI Gene database.
Entrez ID 1641
Gene name Doublecortin
Gene symbol DCX
Synonyms (NCBI Gene)
DBCNDCLISXSCLHXLIS
Chromosome X
Chromosome location Xq23
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
SNPs SNP information provided by dbSNP.
117
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.
299
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-PCRWestern blot 19713529
MIRT001070 hsa-miR-128-3p qRT-PCRWestern blot 19713529
MIRT001070 hsa-miR-128-3p Luciferase reporter assay 19713529
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
24
GO ID Ontology Definition Evidence Reference
GO:0001764 Process Neuron migration IDA 14741102
GO:0001764 Process Neuron migration IEA
GO:0005515 Function Protein binding IPI 21044950, 21516116, 24607389, 25416956, 30886144, 31515488, 32296183, 33961781
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300121 2714 ENSG00000077279
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
203
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormal cerebral morphology Pathogenic rs2147635268, rs56030372 RCV002275900
RCV002274878
Abnormal cortical gyration Pathogenic; Likely pathogenic rs797045520, rs797045518, rs587783579, rs797045515, rs797045514, rs797045513, rs797045512, rs797045519, rs797045510 RCV000193265
RCV000193000
RCV000195154
RCV000192741
RCV000194902
RCV000193684
RCV000192850
RCV000193837
RCV000193604
Abnormality of the nervous system Pathogenic rs2147276330 RCV001814326
Ectopic tissue Pathogenic; Likely pathogenic rs587783518, rs587783592, rs587783591, rs587783590, rs587783589, rs587783588, rs587783587, rs587783586, rs587783585, rs587783584, rs587783583, rs587783582, rs587783581, rs587783580, rs587783579
View all (63 more)
RCV000145805
RCV000145895
RCV000145894
RCV000145893
RCV000145892
RCV000145891
RCV000145890
RCV000145889
RCV000145888
RCV000145887
RCV000145886
RCV000145885
RCV000145884
RCV000145883
RCV000145882
RCV000145881
RCV000145879
RCV000145878
RCV000145877
RCV000145876
RCV000145875
RCV000145874
RCV000145873
RCV000145872
RCV000145871
RCV000145868
RCV000145867
RCV000145865
RCV000145863
RCV000145862
RCV000145860
RCV000145858
RCV000145857
RCV000145856
RCV000145854
RCV000145853
RCV000145852
RCV000145851
RCV000145850
RCV000145849
RCV000145848
RCV000145847
RCV000145846
RCV000145845
RCV000145844
RCV000145843
RCV000145842
RCV000145841
RCV000145840
RCV000145839
RCV000145836
RCV000145835
RCV000145832
RCV000145830
RCV000145829
RCV000145828
RCV000145827
RCV000145826
RCV000145825
RCV000145824
RCV000145823
RCV000145822
RCV000145821
RCV000145820
RCV000145819
RCV000145818
RCV000145816
RCV000145815
RCV000145814
RCV000145813
RCV000145812
RCV000145811
RCV000145810
RCV000145809
RCV000145808
RCV000145807
RCV000145806
RCV000145896
RCV000145861
RCV000145831
RCV000145864
RCV000145869
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
DCX-related disorder Benign; Likely benign; Uncertain significance rs138706968, rs1921162247, rs200720747, rs371169897, rs148472336, rs267606318 RCV003975145
RCV003405952
RCV003927200
RCV003951670
RCV003942381
RCV003962286
Seizure Conflicting classifications of pathogenicity rs587783563 RCV002274944
Associations from Text MiningDisease associations identified through Pubtator
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