Gene ID: 1641, updated on 12-Sep-2024
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Summary
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- Official Symbol
- DCXprovided by HGNC
- Official Full Name
- doublecortinprovided by HGNC
- Primary source
- HGNC:HGNC:2714
- See related
- Ensembl:ENSG00000077279 MIM:300121; AllianceGenome:HGNC:2714
- Gene type
- protein coding
- RefSeq status
- REVIEWED
- Organism
- hom*o sapiens
- Lineage
- Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; hom*o
- Also known as
- DC; DBCN; LISX; SCLH; XLIS
- 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]
- Expression
- Biased expression in brain (RPKM 4.3) and endometrium (RPKM 1.0) See more
- Orthologs
- mouse all
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Genomic context
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- Location:
- Xq23
- Exon count:
- 9
| Annotation release | Status | Assembly | Chr | Location |
|---|---|---|---|---|
| RS_2024_08 | current | GRCh38.p14 (GCF_000001405.40) | X | NC_000023.11 (111293779..111412192, complement) |
| RS_2024_08 | current | T2T-CHM13v2.0 (GCF_009914755.1) | X | NC_060947.1 (109741985..109860408, complement) |
| RS_2024_09 | previous assembly | GRCh37.p13 (GCF_000001405.25) | X | NC_000023.10 (110537007..110655420, complement) |
Chromosome X - NC_000023.11![DCX doublecortin [hom*o sapiens (human)] - Gene (1)](https://i0.wp.com/www.ncbi.nlm.nih.gov/gutils/geneneighb.fcgi?geneid=1641&nuc_gi=568815575&n0=GLUD1P9&n1=CAPN6&n2=LOC126863302&n3=LOC127898092&n4=DCX&n5=LOC127898093&n6=LOC127898094&n7=RNU6-496P&n8=HMGB1P12 "DCX doublecortin [hom*o sapiens (human)] - Gene (1)")
Genomic regions, transcripts, and products
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Expression
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- Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
- Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
- BioProject: PRJEB4337
- Publication: PMID 24309898
- Analysis date: Wed Apr 4 07:08:55 2018
Bibliography
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Related articles in PubMed
- Novel lissencephaly-associated DCX variants in the C-terminal DCX domain affect microtubule binding anddynamics. Lin JR, et al. Epilepsia, 2022 May. PMID 35213059
- Doublecortin undergo nucleocytoplasmic transport via the RanGTPase signaling to promote glioma progression. Ayanlaja AA, et al. Cell Commun Signal, 2020 Feb 12. PMID 32050972, Free PMC Article
- Pathogenic E2K mutation of doublecortin X (DCX) alters microtubule stabilisation and actin filament association. Moslehi M, et al. Biochem Biophys Res Commun, 2019 Jun 4. PMID 30979500
- Doublecortin X (DCX) serine 28 phosphorylation is a regulatory switch, modulating association of DCX with microtubules and actin filaments. Moslehi M, et al. Biochim Biophys Acta Mol Cell Res, 2019 Apr. PMID 30625347
- A dominant dendrite phenotype caused by the disease-associated G253D mutation in doublecortin (DCX) is not due to its endocytosis defect. Yap CC, et al. J Biol Chem, 2018 Dec 7. PMID 30291144, Free PMC Article
GeneRIFs: Gene References Into Functions
- Phenotypic Variability in Novel Doublecortin Gene Variants Associated with Subcortical Band Heterotopia.
Title: Phenotypic Variability in Novel Doublecortin Gene Variants Associated with Subcortical Band Heterotopia.
- Novel lissencephaly-associated DCX variants in the C-terminal DCX domain affect microtubule binding and dynamics.
Title: Novel lissencephaly-associated DCX variants in the C-terminal DCX domain affect microtubule binding anddynamics.
- Doublecortin undergo nucleocytoplasmic transport via the RanGTPase signaling to promote glioma progression.
Title: Doublecortin undergo nucleocytoplasmic transport via the RanGTPase signaling to promote glioma progression.
- Study shows the DCX E2K mutant protein retains the ability to interact with and bundle microtubules (MT)s, but these MTs show a reduced sensitivity to nocodazole-induced depolymerization as well as slower alpha-tubulin exchange rates. Also shows increased association of DCX E2K mutant with the actin filament (F-ACT) network.
Title: Pathogenic E2K mutation of doublecortin X (DCX) alters microtubule stabilisation and actin filament association.
- this is the first report revealing that cir-CCDC66 modulates DCX expression through sponging miR-488-3p and thus participates in the onset of Hirschsprung's disease.
Title: Circular RNA CCDC66 targets DCX to regulate cell proliferation and migration by sponging miR-488-3p in Hirschsprung's disease.
- Phosphorylation of dublecortin X (DCX) serine 28 (S28) plays a critical role in DCX association with the cytoskeleton in human neuroblastoma cells.
Title: Doublecortin X (DCX) serine 28 phosphorylation is a regulatory switch, modulating association of DCX with microtubules and actin filaments.
- Doublecortin can associate with AP-2 without being bound to microtubules. A DCX-G35D mutation causes a dominant-negative dendrite growth phenotype that is not due to a defect in neurofascin endocytosis.
Title: A dominant dendrite phenotype caused by the disease-associated G253D mutation in doublecortin (DCX) is not due to its endocytosis defect.
- exchange rates for the C-terminal truncated DCX protein were resistant to the impact of taxol-induced stabilization
Title: Dynamic microtubule association of Doublecortin X (DCX) is regulated by its C-terminus.
- Age-associated expression of the proliferation and immature neuron markers MKI67 and DCX, respectively, was unrelated, suggesting that neurogenesis-associated processes are independently altered at these points in the development from stem cell to neuron.
Title: Evidence for reduced neurogenesis in the aging human hippocampus despite stable stem cell markers.
- specifically recognizes compacted GDP-like microtubule lattice
Title: Doublecortin Is Excluded from Growing Microtubule Ends and Recognizes the GDP-Microtubule Lattice.
Phenotypes
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Find tests for this gene in the NIH Genetic Testing Registry (GTR)
Review eQTL and phenotype association data in this region using PheGenI
Associated conditions
| Description | Tests |
|---|---|
| Lissencephaly type 1 due to doublecortin gene mutation MedGen: C4551968 OMIM: 300067 GeneReviews: DCX-Related Disorders | Compare labs |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2012-07-06) Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2012-07-06) |
Variation
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HIV-1 interactions
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Pathways from PubChem
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Interactions
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| Products | Interactant | Other Gene | Complex | Source | Pubs | Description |
|---|
General gene information
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Markers
- RH15935 (e-PCR)
- DXS1188 (e-PCR)
- AL008939 (e-PCR)
- REN20181 (e-PCR)
- AFM340za9 (e-PCR)
- RH47363 (e-PCR)
- DXS7357 (e-PCR)
- SHGC-34529 (e-PCR)
- SHGC-58209 (e-PCR)
- NoName (e-PCR)
Clone Names
- FLJ51296
Gene Ontology Provided by GOA
| Function | Evidence Code | Pubs |
|---|---|---|
| enables microtubule binding | IDA Inferred from Direct Assay | PubMed |
| enables microtubule binding | IMP Inferred from Mutant Phenotype | PubMed |
| enables protein binding | IPI Inferred from Physical Interaction | PubMed |
| enables protein kinase binding | IPI Inferred from Physical Interaction | PubMed |
| Process | Evidence Code | Pubs |
|---|---|---|
| involved_in axoneme assembly | IEA Inferred from Electronic Annotation | |
| involved_in central nervous system development | TAS Traceable Author Statement | PubMed |
| involved_in intracellular signal transduction | IEA Inferred from Electronic Annotation | |
| involved_in nervous system development | TAS Traceable Author Statement | PubMed |
| involved_in neuron migration | IDA Inferred from Direct Assay | PubMed |
| involved_in retina development in camera-type eye | IEA Inferred from Electronic Annotation |
| Component | Evidence Code | Pubs |
|---|---|---|
| located_in cytoskeleton | TAS Traceable Author Statement | PubMed |
| located_in cytosol | IDA Inferred from Direct Assay | |
| located_in cytosol | TAS Traceable Author Statement | |
| located_in microtubule | IEA Inferred from Electronic Annotation | |
| part_of microtubule associated complex | TAS Traceable Author Statement | PubMed |
| located_in neuron projection | IDA Inferred from Direct Assay | PubMed |
General protein information
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- Preferred Names
- neuronal migration protein doublecortin
- Names
- doublecortex
- doublin
- lis-X
- lissencephalin-X
NCBI Reference Sequences (RefSeq)
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RefSeqs maintained independently of Annotated Genomes
These reference sequences exist independently of genome builds. Explain
These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.
Genomic
-
NG_011750.1RefSeqGene
- Range
- 4987..123400
- Download
- GenBank, FASTA, Sequence Viewer (Graphics)
mRNA and Protein(s)
-
NM_000555.3 → NP_000546.2 neuronal migration protein doublecortin isoform a
See identical proteins and their annotated locations for NP_000546.2
Status: REVIEWED
- Description
- Transcript Variant: This variant (1) encodes the longest isoform (a).
- Source sequence(s)
- AJ003112, AL031117, AL450490, AW163329
- UniProtKB/TrEMBL
- B4DM53
- Related
- ENSP00000350776.6, ENST00000358070.10
- Conserved Domains (3) summary
-
- cd16112
Location:132 → 220 - DCX1_DCX; Dublecortin-like domain 1 found in neuronal migration protein doublecortin (DCX)
- cd17069
Location:257 → 340 - DCX2; Dublecortin-like domain 2
- cl40450
Location:365 → 419 - KLF8_12_N; N-terminal domain of Kruppel-like factor (KLF) 8, KLF12, and similar proteins
- cd16112
-
NM_001195553.2 → NP_001182482.1 neuronal migration protein doublecortin isoform d
See identical proteins and their annotated locations for NP_001182482.1
Status: REVIEWED
- Description
- Transcript Variant: This variant (5) has an alternate 5' exon, resulting in a downstream AUG start codon, and an additional segment and additional 3 nts in two different 3' CDS regions respectively, as compared to variant 1. The resulting isoform (d) has a shorter N-terminus, and has an extra segment and an extra aa in two different C-terminal regions respectively, compared to isoform a.
- Source sequence(s)
- AK290455, AL031117, DA497601
- Consensus CDS
- CCDS83483.1
- UniProtKB/TrEMBL
- A0A9S7N7F7, A8K340
- Related
- ENSP00000490614.1, ENST00000636035.2
- Conserved Domains (3) summary
-
- cd16112
Location:51 → 139 - DCX1_DCX; Dublecortin-like domain 1 found in neuronal migration protein doublecortin (DCX)
- cd17069
Location:176 → 259 - DCX2; Dublecortin-like domain 2
- cl40450
Location:284 → 343 - KLF8_12_N; N-terminal domain of Kruppel-like factor (KLF) 8, KLF12, and similar proteins
- cd16112
-
NM_001369370.1 → NP_001356299.1 neuronal migration protein doublecortin isoform d
Status: REVIEWED
- Source sequence(s)
- AL031117, AL450490
- Consensus CDS
- CCDS83483.1
- UniProtKB/TrEMBL
- A0A9S7N7F7, A8K340
- Related
- ENSP00000490357.1, ENST00000637453.1
- Conserved Domains (3) summary
-
- cd16112
Location:51 → 139 - DCX1_DCX; Dublecortin-like domain 1 found in neuronal migration protein doublecortin (DCX)
- cd17069
Location:176 → 259 - DCX2; Dublecortin-like domain 2
- cl40450
Location:284 → 343 - KLF8_12_N; N-terminal domain of Kruppel-like factor (KLF) 8, KLF12, and similar proteins
- cd16112
-
NM_001369371.1 → NP_001356300.1 neuronal migration protein doublecortin isoform b
Status: REVIEWED
- Source sequence(s)
- AL031117, AL450490
- Consensus CDS
- CCDS14558.1
- UniProtKB/Swiss-Prot
- A6NFY6, A9Z1V8, D3DUY8, D3DUY9, D3DUZ0, O43602, O43911, Q5JYZ5
- UniProtKB/TrEMBL
- A0A9S7N7F7
- Conserved Domains (3) summary
-
- cd16112
Location:51 → 139 - DCX1_DCX; Dublecortin-like domain 1 found in neuronal migration protein doublecortin (DCX)
- cd17069
Location:176 → 259 - DCX2; Dublecortin-like domain 2
- cl40450
Location:284 → 343 - KLF8_12_N; N-terminal domain of Kruppel-like factor (KLF) 8, KLF12, and similar proteins
- cd16112
-
NM_001369372.1 → NP_001356301.1 neuronal migration protein doublecortin isoform e
Status: REVIEWED
- Source sequence(s)
- AL031117, AL450490
- Consensus CDS
- CCDS94654.1
- UniProtKB/TrEMBL
- A0A1B0GUE1, A0A1B0GWD1, E7EU50
- Related
- ENSP00000490878.1, ENST00000637570.1
- Conserved Domains (3) summary
-
- cd16112
Location:51 → 139 - DCX1_DCX; Dublecortin-like domain 1 found in neuronal migration protein doublecortin (DCX)
- cd17069
Location:176 → 259 - DCX2; Dublecortin-like domain 2
- cl40450
Location:284 → 338 - KLF8_12_N; N-terminal domain of Kruppel-like factor (KLF) 8, KLF12, and similar proteins
- cd16112
-
NM_001369373.1 → NP_001356302.1 neuronal migration protein doublecortin isoform f
Status: REVIEWED
- Source sequence(s)
- AL031117, AL450490
- Consensus CDS
- CCDS94653.1
- UniProtKB/TrEMBL
- A0A1B0GUE1, A0A804CF28, E7EU50
- Related
- ENSP00000361061.3, ENST00000371993.7
- Conserved Domains (2) summary
-
- cd16112
Location:51 → 139 - DCX1_DCX; Dublecortin-like domain 1 found in neuronal migration protein doublecortin (DCX)
- cd17069
Location:176 → 259 - DCX2; Dublecortin-like domain 2
- cd16112
-
NM_001369374.1 → NP_001356303.1 neuronal migration protein doublecortin isoform f
Status: REVIEWED
- Source sequence(s)
- AL031117, AL450490
- Consensus CDS
- CCDS94653.1
- UniProtKB/TrEMBL
- A0A1B0GUE1, A0A804CF28, E7EU50
- Conserved Domains (2) summary
-
- cd16112
Location:51 → 139 - DCX1_DCX; Dublecortin-like domain 1 found in neuronal migration protein doublecortin (DCX)
- cd17069
Location:176 → 259 - DCX2; Dublecortin-like domain 2
- cd16112
-
NM_001410715.1 → NP_001397644.1 neuronal migration protein doublecortin isoform g
Status: REVIEWED
- Source sequence(s)
- AL031117, AL450490
- Consensus CDS
- CCDS94652.1
- UniProtKB/TrEMBL
- A0A1B0GUE1, A0A7P0T9C5, E7EU50
- Related
- ENSP00000505501.1, ENST00000680476.1
-
NM_178151.3 → NP_835364.1 neuronal migration protein doublecortin isoform c
See identical proteins and their annotated locations for NP_835364.1
Status: REVIEWED
- Description
- Transcript Variant: This variant (4) has an alternate 5' exon, resulting in a downstream AUG start codon, as compared to variant 1. The resulting isoform (c) has a shorter N-terminus compared to isoform a. Variants 3 and 4 encode the same isoform.
- Source sequence(s)
- AF034634, AL031117, AL450490, AW163329, DC375659
- Consensus CDS
- CCDS14557.1
- UniProtKB/TrEMBL
- A0A1B0GUE1, E7EU50
- Conserved Domains (3) summary
-
- cd16112
Location:51 → 139 - DCX1_DCX; Dublecortin-like domain 1 found in neuronal migration protein doublecortin (DCX)
- cd17069
Location:176 → 259 - DCX2; Dublecortin-like domain 2
- cl40450
Location:284 → 338 - KLF8_12_N; N-terminal domain of Kruppel-like factor (KLF) 8, KLF12, and similar proteins
- cd16112
-
NM_178152.3 → NP_835365.1 neuronal migration protein doublecortin isoform b
See identical proteins and their annotated locations for NP_835365.1
Status: REVIEWED
- Description
- Transcript Variant: This variant (2) has an alternate 5' exon, resulting in a downstream AUG start codon, and has an additional segment in the 3' coding region, as compared to variant 1. The resulting isoform (b) has a shorter N-terminus and an extra internal segment compared to isoform a.
- Source sequence(s)
- AF040254, AL031117, AW163329, DA497601
- Consensus CDS
- CCDS14558.1
- UniProtKB/Swiss-Prot
- A6NFY6, A9Z1V8, D3DUY8, D3DUY9, D3DUZ0, O43602, O43911, Q5JYZ5
- UniProtKB/TrEMBL
- A0A9S7N7F7
- Related
- ENSP00000489635.1, ENST00000635795.1
- Conserved Domains (3) summary
-
- cd16112
Location:51 → 139 - DCX1_DCX; Dublecortin-like domain 1 found in neuronal migration protein doublecortin (DCX)
- cd17069
Location:176 → 259 - DCX2; Dublecortin-like domain 2
- cl40450
Location:284 → 343 - KLF8_12_N; N-terminal domain of Kruppel-like factor (KLF) 8, KLF12, and similar proteins
- cd16112
-
NM_178153.3 → NP_835366.1 neuronal migration protein doublecortin isoform c
See identical proteins and their annotated locations for NP_835366.1
Status: REVIEWED
- Description
- Transcript Variant: This variant (3) has an alternate 5' exon, resulting in a downstream AUG start codon, as compared to variant 1. The resulting isoform (c) has a shorter N-terminus compared to isoform a. Variants 3 and 4 encode the same isoform.
- Source sequence(s)
- AL031117, AW163329, BC027925, DA497601
- Consensus CDS
- CCDS14557.1
- UniProtKB/TrEMBL
- A0A1B0GUE1, E7EU50
- Related
- ENSP00000419861.1, ENST00000488120.2
- Conserved Domains (3) summary
-
- cd16112
Location:51 → 139 - DCX1_DCX; Dublecortin-like domain 1 found in neuronal migration protein doublecortin (DCX)
- cd17069
Location:176 → 259 - DCX2; Dublecortin-like domain 2
- cl40450
Location:284 → 338 - KLF8_12_N; N-terminal domain of Kruppel-like factor (KLF) 8, KLF12, and similar proteins
- cd16112
RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08
The following sections contain reference sequences that belong to a specific genome build. Explain
Reference GRCh38.p14 Primary Assembly
Genomic
-
NC_000023.11Reference GRCh38.p14 Primary Assembly
- Range
- 111293779..111412192 complement
- Download
- GenBank, FASTA, Sequence Viewer (Graphics)
Alternate T2T-CHM13v2.0
Genomic
-
NC_060947.1Alternate T2T-CHM13v2.0
- Range
- 109741985..109860408 complement
- Download
- GenBank, FASTA, Sequence Viewer (Graphics)
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| Nucleotide | Protein | |
|---|---|---|
| Heading | Accession and Version | |
| Protein Accession | Links | |
|---|---|---|
| GenPept Link | UniProtKB Link | |
| O43602.4 | GenPept | UniProtKB/Swiss-Prot:O43602 |
Additional links
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Gene LinkOut
The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.
- Interologous Interaction Database
- MilliporeSigma
- Bgee database
- BioGPS
- BioGRID Open Repository of CRISPR Screens (ORCS)
- Domain Mapping of Disease Mutations
- Eukaryotic Promoter Database
- GlyGen glycoinformatics resource
- Human Gene Mutation Database
- Human eFP Browser
- Ingenuity Pathways Analysis
- InnateDB
- InterMine
- Kyoto Encyclopedia of Genes and Genomes
- OMA Browser: Orthologous MAtrix
- OrthoDB catalog of orthologs
- PhosphoSitePlus
- The Gene Wiki
- The Weizmann Institute of Science GeneCards and MalaCards databases
- Addgene Non-profit plasmid repository
- Bio-Techne
- ExactAntigen/Labome
- GenScript latest version of gene cDNA ORF Clone
- GeneCopoeia Inc.
- GeneTex Inc
- OriGene
![DCX doublecortin [hom*o sapiens (human)] - Gene (2024)](data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAAEAAAABCAQAAAC1HAwCAAAAC0lEQVR42mP8/h8AAvMB+NzmkbcAAAAASUVORK5CYII=)