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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

DCX Gene

protein-coding GIFtS: 65
GCID: GC0XM110537

doublecortin

(Previous names: doublecortex; lissencephaly, X-linked (doublecortin) )

Explore 54 diseases affiliated with
DCX via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Doublecortin¹		Doublin³
DBCN¹ ² ³ ⁵		Lis-X³
LISX¹ ² ³ ⁵		Lissencephalin-X³
DC¹ ²		Neuronal Migration Protein Doublecortin²
SCLH¹ ²		Doublin³
XLIS¹ ²		Lis-X³
Doublecortex; Lissencephaly, X-Linked (Doublecortin)¹		Lissencephalin-X³
Doublecortex¹

External Ids:	HGNC: 2714¹	Entrez Gene: 1641²	Ensembl: ENSG00000077279⁷	OMIM: 300121⁵	UniProtKB: O43602³

Export aliases for DCX gene to outside databases

Previous GC identifers: GC0XM105840 GC0XM107683 GC0XM108562 GC0XM109300 GC0XM110343 GC0XM110423 GC0XM100159

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for DCX:

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)

UniProtKB/Swiss-Prot: DCX_HUMAN, O43602

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 Wiki entry for DCX (Doublecortin)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000023.10 NC_018934.1 NT_011651.17

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the DCX gene promoter:
AP-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: DCX promoter sequence

Search SABiosciences Chromatin IP Primers for DCX

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DCX

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq22.3-q23 Ensembl cytogenetic band: Xq23 HGNC cytogenetic band: Xq22.3-q23

DCX Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DCX gene location

GeneLoc information about chromosome X GeneLoc Exon Structure

GeneLoc location for GC0XM110537: view genomic region (about GC identifiers)

Start:	110,537,007 bp from pter	End:	110,655,603 bp from pter
Size:	118,597 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: DCX_HUMAN, O43602 (See protein sequence)

Recommended Name: Neuronal migration protein doublecortin

Size: 441 amino acids; 49318 Da

Subunit: Interacts with tubulin

Subcellular location: Cytoplasm. Cell projection (By similarity). Note=Localizes at neurite tips (By similarity)

4 PDB 3D structures from and Proteopedia for DCX:

1MJD (3D)

2BQQ (3D)

2XRP (3D)

4ATU (3D)

Secondary accessions: A6NFY6 A9Z1V8 D3DUY8 D3DUY9 D3DUZ0 O43911 Q5JYZ5

Alternative splicing: 5 isoforms: O43602-1 O43602-2 O43602-3 O43602-4 O43602-5 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for DCX: NX_O43602

Post-translational modifications:

Phosphorylation by MARK1, MARK2 and PKA regulates its ability to bind microtubules (By similarity)¹

Phosphorylation at Ser-346 and Ser-378 seems to occur only in neonatal brain, the levels falling precipitously by

postnatal day 21 (By similarity)¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_O43602

DCX Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (5 alternative transcripts):

NP_000546.2 NP_001182482.1 NP_835364.1 NP_835365.1 NP_835366.1

ENSEMBL proteins:

ENSP00000337697 ENSP00000350776 ENSP00000348553 ENSP00000419861 ENSP00000418811

ENSP00000349385 ENSP00000361061

Reactome Protein details: O43602
Human Recombinant Protein Products:

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	OriGene Purified Proteins (see all 3): DCX OriGene Protein Over-expression Lysate (see all 7): DCX OriGene Custom Protein Services for DCX
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	Novus Biologicals DCX Protein Novus Biologicals DCX Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for DCX

Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005622	intracellular	--	--
GO:0005829	cytosol	TAS	--
GO:0005856	cytoskeleton	TAS	11001923
GO:0005874	microtubule	IEA	--
GO:0005875	microtubule associated complex	TAS	11001923

DCX for ontologies About GeneDecksing

DCX Antibody Products:

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	Novus Biologicals DCX Antibodies
	Abcam antibodies for DCX
	Uscn Antibodies for DCX
	ThermoFisher Antibodies for DCX

Assay Products for DCX:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
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	GenScript Custom Assay Services for DCX
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for DCX

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

DCX for domains About GeneDecksing

2 InterPro domains/families:

IPR003533 Doublecortin_dom

IPR017302 Doublecortin_chordata

Graphical View of Domain Structure for InterPro Entry O43602

ProtoNet protein and cluster: O43602

1 Blocks protein family: IPB003533 Doublecortin

UniProtKB/Swiss-Prot: DCX_HUMAN, O43602

Similarity: Contains 2 doublecortin domains

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: DCX_HUMAN, O43602

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

Genatlas biochemistry entry for DCX:

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

miRNA Products:		miRTarBase miRNAs that target DCX: hsa-mir-128 (MIRT001070)

		OriGene 3'-UTR Clone (see all 4): DCX Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DCX
		8/220 QIAGEN miScript miRNA Assays for microRNAs that regulate DCX (see all 220):
		hsa-miR-194* hsa-miR-26a-2* hsa-miR-128 hsa-miR-138-2* hsa-miR-3921 hsa-miR-342-3p hsa-miR-4275 hsa-miR-3916

		Browse SwitchGear 3'UTR luciferase reporter plasmids

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DCX (see all 7) OriGene shRNA RFP: DCX OriGene siRNA: DCX
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Gene Editing
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DNA2.0 Custom Protein Engineering Service for DCX

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		GenScript: all cDNA clones in your preferred vector (see all 5): DCX (NM_001195553)
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		DNA2.0 Custom Codon Optimized Gene Synthesis Service for DCX
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DCX

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for DCX
		Search LifeMap BioReagents cell lines for DCX

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DCX

Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	--	--
GO:0008017	microtubule binding	IDA	14741102
GO:0019901	protein kinase binding	IPI	14741102

DCX for ontologies About GeneDecksing

3 GenomeRNAi human phenotypes for DCX:

Decreased viability with cispl

Increased number of cells in m

Synthetic lethal with Ras

Animal Models:
Mouse knock-out Dcx^tm1.2Ffr for DCX
6 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Dcx):

behavior/neurological	growth/size	mortality/aging	nervous system	no phenotypic analysis
reproductive system

DCX for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Axon guidance

	Axon guidance	1.00			L1CAM interactions	0.39
	Developmental Biology	0.69

Neuroscience

Neuroscience

1.00

Cytoskeletal Signaling

Cytoskeletal Signaling

1.00

Neurofascin interactions

Neurofascin interactions

1.00

Lissencephaly gene (LIS1) in neuronal migration and development

Lissencephaly gene (LIS1) in neuronal migration and development

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for DCX

JNK Pathway

2 Cell Signaling Technology (CST) Pathways for DCX

	Neuroscience
	Cytoskeletal Signaling

1 BioSystems Pathway for DCX

Lissencephaly gene (LIS1) in neuronal migration and development

4 Reactome Pathways for DCX

	L1CAM interactions
	Developmental Biology
	Axon guidance
	Neurofascin interactions

DCX for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for DCX

STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

5/19 Interacting proteins for DCX (O43602³ ENSP00000337697⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 19)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PAFAH1B1	P43034³, ENSP00000380378⁴	I2D: score=2 STRING: ENSP00000380378
CDK5	Q00535³, ENSP00000297518⁴	I2D: score=1 STRING: ENSP00000297518
NFASC	O94856³, ENSP00000353154⁴	I2D: score=1 STRING: ENSP00000353154
PPP1CA	P62136³, ENSP00000326031⁴	I2D: score=1 STRING: ENSP00000326031
USP9X	Q93008³, ENSP00000316357⁴	I2D: score=1 STRING: ENSP00000316357

About this table

Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001764	neuron migration	IDA	14741102
GO:0007399	nervous system development	TAS	9489699
GO:0007411	axon guidance	TAS	--
GO:0007417	central nervous system development	TAS	9489699
GO:0007420	brain development	IEA	--

DCX for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

DCX for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for DCX

1 HMDB Compound for DCX About this table

Compound	Synonyms	CAS #	PubMed Ids
Calcium	Ca (see all 2)	7440-70-2	--

5 Novoseek chemical compound relationships for DCX gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
bromodeoxyuridine	67.2	22	12812760 (1), 15023573 (1), 17854417 (1), 20025852 (1) (see all 14)
kainate	24.8	2	16624297 (1), 16641251 (1)
calcium	0	2	10550327 (1)
serine	0	1	9817918 (1)
vegf	0	1	15178821 (1)

Search CenterWatch for drugs/clinical trials and news about DCX

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for DCX gene (5 alternative transcripts):

NM_000555.3 NM_001195553.1 NM_178151.2 NM_178152.2 NM_178153.2

Unigene Cluster for DCX:

Doublecortin

Hs.34780 [show with all ESTs]

Unigene Representative Sequence: NM_000555

8 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000338081(uc004epd.3 uc011msv.2) ENST00000358070 ENST00000356220

ENST00000488120 ENST00000496551 ENST00000468911 ENST00000356915(uc004epf.3 uc004epg.3)

ENST00000371993(uc004epe.3)

miRNA Products:		OriGene 3'-UTR Clone (see all 4): DCX Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DCX
		8/220 QIAGEN miScript miRNA Assays for microRNAs that regulate DCX (see all 220):
		hsa-miR-194* hsa-miR-26a-2* hsa-miR-128 hsa-miR-138-2* hsa-miR-3921 hsa-miR-342-3p hsa-miR-4275 hsa-miR-3916

		Browse SwitchGear 3'UTR luciferase reporter plasmids

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		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DCX (see all 7) OriGene shRNA RFP: DCX OriGene siRNA: DCX
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Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DCX (see all 10) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DCX (see all 7) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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Additional cDNA sequence:

AF034634.1 AF040254.1 AF040255.1 AK002120.1 AK290455.1 AK297297.1 BC027925.1

7 DOTS entries:

DT.95366810 DT.92421438 DT.417323 DT.121323776 DT.100784134 DT.121323767 DT.95366813

24/115 AceView cDNA sequences (see all 115):

AA455927 BX505302 AU120758 AI879528 NM_178152 NM_000555 AA829724 AI654908

AA626676 AI553841 D80599 BC027925 D59885 AA620421 BE327083 AW163329

AI937317 T07153 D81042 NM_178151 BU741997 AA447721 BI522791 AF034634

GeneLoc Exon Structure

5/6 Alternative Splicing Database (ASD) splice patterns (SP) for DCX (see all 6) About this scheme

ExUns:	1a	·	1b	^	2	^	3	^	4	^	5	^	6a	·	6b	^	7a	·	7b	·	7c	^	8	^	9a	·	9b	^	10	^	11a	·	11b	·	11c
SP1:					-		-		-																		-
SP2:																											-
SP3:
SP4:					-		-		-
SP5:							-		-

ECgene alternative splicing isoforms for DCX

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

DCX expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGTGTAAGGT

About this image

DCX expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

10/15 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 15)

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Eye

Inner Nuclear Layer

Mature Horizontal Cells

Horizontal, Retina

Brain

Blood Brain Barrier

Endothelial Cells

Blood Brain Barrier, Endothelium

Gut Tube

Midgut

Midgut Endoderm Cells

Endoderm

Kidney

Cap Mesenchyme

Cap Mesenchyme Cells

Kidney

Metanephric Mesenchyme

Metanephric Mesenchyme Cells

Kidney

Neural Tube

Spinal Neural Tube Cells

Neural Ectoderm

Ovary

Ovigerous Cord

Ovarian Somatic Cells

Ovary

Skeletal Muscle

Hyoid Arch Muscles

Mononuclear Myocytes

Skeletal Muscle

Mandibular Arch Muscles

Mononuclear Myocytes

Skeletal Muscle

Eye

Retina

Eye

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Pancreatic endoderm/endocrine precursor-like cells (A scalable, suspensi...)

See DCX Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for DCX

SOURCE GeneReport for Unigene cluster: Hs.34780

UniProtKB/Swiss-Prot: DCX_HUMAN, O43602

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

SABiosciences Expression via Pathway-Focused PCR Arrays including DCX:

Neurogenesis in human mouse rat

Cell Lineage Identification in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DCX

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for DCX gene from 3/13 species (see all 13) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	DCX¹	doublecortin	85.09(n) 96.39(a)		374242 NM_204335.1 NP_989666.1
lizard (Anolis carolinensis)	Reptilia	DCX⁶ --	--	88(a) 75(a)	1 ↔ 1 possible ortholog	4(125741547-125742855) 3(181852272-181867671)
zebrafish (Danio rerio)	Actinopterygii	BX005047.1⁶	--	69(a)	1 ↔ 1	1(36837390-36853526)

ENSEMBL Gene Tree for DCX (if available)
TreeFam Gene Tree for DCX (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for DCX gene

PNCK² CAMK1G² PSKH2² DCLK2² CAMK2A² CAMK1D² DCLK1² PSKH1²

CAMK4² CAMK2D² DCLK3² CAMKV² CAMK2G² CAMK2B² CAMK1²

2 SIMAP similar genes for DCX using alignment to 3 protein entries: DCX_HUMAN (see all proteins):

DCLK1 DCLK2

DCX for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr X pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs104894782^1,2	C	pathogenic	110644315(-)	`GAAGAC/GAGCCC`	10	T R	mis¹		0	--	--	--	--
rs56030372^1,2	C	pathogenic	110644336(-)	`TGTGCA/GTGTGC`	10	H R	mis¹		0	--	--	--	--
rs104894780^1,2	C	pathogenic	110644349(-)	`AGCCTC/TGGAAG`	10	R W	mis¹		0	--	--	--	--
rs104894781^1,2	C	pathogenic	110644550(-)	`AAAGCC/TATGTC`	10	H Y	mis¹		0	--	--	--	--
rs104894785^1,2	C	pathogenic	110653362(-)	`TGACGC/GGATCT`	10	R G	mis¹		0	--	--	--	--
rs104894784^1,2	C	pathogenic	110653394(-)	`TTTTCA/GCAGCT`	10	H R	mis¹		0	--	--	--	--
rs104894779^1,2	C	pathogenic	110653443(-)	`ATGGGA/GACCGC`	10	N D	mis¹		0	--	--	--	--
rs104894783^1,2	C	pathogenic	110653488(-)	`CACTGA/CGTAAT`	10	S R	mis¹		0	--	--	--	--
rs185009667^1,2		--	110536521(+)	`AAACTA/GTGTCA`	5	--	ds500¹		0	--	--	--	--
rs7056466^1,2	C,F,H,	--	110536563(+)	`ATCTCT/CGTGTT`	5	--	ds500¹		13		NS EA NA	1410

HapMap Linkage Disequilibrium report for DCX (110537007 - 110655603 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for DCX: --
Human Gene Mutation Database (HGMD): DCX

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DCX

DNA2.0 Custom Variant and Variant Library Synthesis for DCX

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

DCX for disorders           About GeneDecksing

OMIM gene information: 300121
OMIM disorders: 300067
UniProtKB/Swiss-Prot: DCX_HUMAN, O43602

Defects in DCX are the cause of lissencephaly X-linked type 1 (LISX1) [MIM:300067]; also called X-LIS or LIS.

LISX1 is 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'

Defects in DCX are the cause of subcortical band heterotopia X-linked (SBHX) [MIM:300067]; also known as

double cortex or subcortical laminar heterotopia (SCLH). 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

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

20/54 diseases for DCX (see all 54): About MalaCards

lissencephaly x-linked subcortical laminal heteropia, x-linked lissencephaly subcortical laminal heteropia

heterotopia subcortical band heterotopia periventricular nodular heterotopia subcortical laminar heterotopia

lennox-gastaut syndrome neuronitis dcx-related disorders status epilepticus

focal cortical dysplasia cerebellar hypoplasia developmental disabilities temporal lobe epilepsy

pilocytic astrocytoma traumatic brain injury cerebral artery occlusion corpus callosum

4 diseases from the University of Copenhagen DISEASES database for DCX:

Lissencephaly Cerebrovascular accident Intellectual disability Neurodegenerative disease

10/27 Novoseek disease relationships for DCX gene (see all 27) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
lissencephaly, x-linked	96.9	23	9097958 (2), 9489700 (2), 10369164 (1), 12223548 (1) (see all 20)
lissencephaly sequence, isolated	86.7	8	12552055 (1), 11429281 (1), 10494089 (1), 11262729 (1) (see all 7)
periventricular nodular heterotopia	83.1	1	16538086 (1)
cerebellar hypoplasia	75.9	1	16538086 (1)
epilepsy	59.7	9	12027577 (1), 18575605 (1), 16957770 (1), 19144832 (1) (see all 9)
mental retardation	52.5	6	18575605 (1), 16957770 (1), 19144832 (1), 15632197 (1) (see all 6)
tuberous sclerosis	47.7	1	12200630 (1)
ganglioglioma	45.4	4	12200628 (2), 16520969 (1)
zellweger syndrome	40.2	2	10963364 (2)
pilocytic astrocytoma	31.6	1	16520969 (1)

Genatlas disease: DCX

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)

GeneTests: DCX

DCX-Related Disorders

Genetic Association Database (GAD): DCX
Human Genome Epidemiology (HuGE) Navigator: DCX (3 documents)

Export disorders for DCX gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for DCX gene, integrated from 9 sources (see all 218):
(articles sorted by number of sources associating them with DCX)

Utopia: connect your pdf to the dynamic
world of online information

Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein. (PubMed id 9489700)^{1, 2, 3, 9} Gleeson J.G....Walsh C.A. (1998)
A novel CNS gene required for neuronal migration and involved in X- linked subcortical laminar heterotopia and lissencephaly syndrome. (PubMed id 9489699)^{1, 2, 3} Des Portes V.... Chelly J. (1998)
LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation. (PubMed id 9817918)^{1, 2, 9} Pilz D.T....Ross M.E. (1998)
The DCX-domain tandems of doublecortin and doublecortin-like kinase. (PubMed id 12692530)^{1, 2, 9} Kim M.H....Derewenda Z.S. (2003)
Human doublecortin (DCX) and the homologous gene in mouse encode a putative Ca2+-dependent signaling protein which is mutated in human X- linked neuronal migration defects. (PubMed id 9668176)^{1, 2, 9} Sossey-Alaoui K.... Srivastava A.K. (1998)
Doublecortin is the major gene causing X-linked subcortical laminar heterotopia (SCLH). (PubMed id 9618162)^{1, 2, 9} Des Portes V.... Beldjord C. (1998)
Characterization of mutations in the gene doublecortin in patients with double cortex syndrome. (PubMed id 9989615)^{1, 2, 9} Gleeson J.G....Walsh C.A. (1999)
Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1. (PubMed id 10441340)^{1, 2, 9} Pilz D.T.... Ledbetter D.H. (1999)
Somatic mosaicism and variable penetrance in doublecortin-associated migration disorders. (PubMed id 12552055)^{1, 2, 9} Aigner L.... Winkler J. (2003)
Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females. (PubMed id 12390976)^{1, 2, 9} D'Agostino M.D.... Andermann E. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 1641	HGNC: 2714	AceView: DCX	Ensembl:ENSG00000077279	euGenes: HUgn1641
ECgene: DCX	H-InvDB: DCX

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for DCX	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/DCX

Intellectual Property for DCX gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for DCX gene:
Search GeneIP for patents involving DCX

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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Retinitis
Developmental Disabilities
LISSENCEPHALY, X-LINKED
Zellweger Syndrome
Hypoplasia
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