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    DCX doublecortin [ Homo sapiens (human) ]

    Gene ID: 1641, updated on 2-Nov-2024

    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
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    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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    See DCX in Genome Data Viewer
    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_000023.11Genomic Context describing neighboring genes Neighboring gene glutamate dehydrogenase 1 pseudogene 9 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:110489468-110490667 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:110498437-110498970 Neighboring gene calpain 6 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:110654454-110654986 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:110654987-110655518 Neighboring gene RNA, U6 small nuclear 496, pseudogene Neighboring gene high mobility group box 1 pseudogene 12

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    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

    1. Template-free 13-protofilament microtubule-MAP assembly visualized at 8 A resolution. Fourniol FJ, et al. J Cell Biol, 2010 Nov 1. PMID 20974813, Free PMC Article
    2. Doublecortin is preferentially expressed in invasive human brain tumors. Daou MC, et al. Acta Neuropathol, 2005 Nov. PMID 16195916
    3. Expression of doublecortin in tumours of the central and peripheral nervous system and in human non-neuronal tissues. Bernreuther C, et al. Acta Neuropathol, 2006 Mar. PMID 16520969
    4. The DC-module of doublecortin: dynamics, domain boundaries, and functional implications. Cierpicki T, et al. Proteins, 2006 Sep 1. PMID 16835924
    5. Multiplex ligation-dependent probe amplification detects DCX gene deletions in band heterotopia. Mei D, et al. Neurology, 2007 Feb 6. PMID 17283321

    See all (116) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Reconsidering Neurogenetic Indication in the Human Brain: Broad Expression of Doublecortin Transcript in the Hippocampal and Cortical Cell Populations.
      Title: Reconsidering Neurogenetic Indication in the Human Brain: Broad Expression of Doublecortin Transcript in the Hippocampal and Cortical Cell Populations.
    2. 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.
    3. 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 and dynamics.
    4. 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.
    5. 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.
    6. 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.
    7. 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.
    8. 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.
    9. 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.
    10. 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.
    Submit: New GeneRIF Correction See all GeneRIFs (53)

    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
    		not available

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2012-07-06)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2012-07-06)

    ClinGen Genome Curation PagePubMed

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat induces hyperphosphorylation of neuronal migration protein doublecortin in neuronal cells PubMed

    Go to the HIV-1, Human Interaction Database

    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

    Homology

    Clone Names

    • FLJ51296

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables microtubule binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables microtubule binding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in axoneme assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in central nervous system development TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in intracellular signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in nervous system development TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in neuron migration IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in retina development in camera-type eye IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoskeleton TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in microtubule IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of microtubule associated complex TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in neuron projection IDA
    Inferred from Direct Assay
    more info
    		 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

    1. NG_011750.1 RefSeqGene

      Range
      4987..123400
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. 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

    2. 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

    3. 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

    4. 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

    5. 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

    6. 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

    7. 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

    8. 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
      A0A7P0T9C5
      Related
      ENSP00000505501.1, ENST00000680476.1

    9. 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

    10. 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

    11. 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

    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

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      111293779..111412192 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      109741985..109860408 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O43602.4 GenPept UniProtKB/Swiss-Prot:O43602

    Gene LinkOut

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