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    DCDC2 doublecortin domain containing 2 [ Homo sapiens (human) ]

    Gene ID: 51473, updated on 2-Nov-2024

    Summary

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    Official Symbol
    DCDC2provided by HGNC
    Official Full Name
    doublecortin domain containing 2provided by HGNC
    Primary source
    HGNC:HGNC:18141
    See related
    Ensembl:ENSG00000146038 MIM:605755; AllianceGenome:HGNC:18141
    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
    NSC; RU2; RU2S; DCDC2A; DFNB66; NPHP19
    Summary
    This gene encodes a doublecortin domain-containing family member. The doublecortin domain has been demonstrated to bind tubulin and enhance microtubule polymerization. This family member is thought to function in neuronal migration where it may affect the signaling of primary cilia. Mutations in this gene have been associated with reading disability (RD) type 2, also referred to as developmental dyslexia. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2013]
    Expression
    Biased expression in kidney (RPKM 12.9), thyroid (RPKM 5.3) and 8 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DCDC2 in Genome Data Viewer
    Location:
    6p22.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (24171755..24383292, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (24043591..24253315, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (24171983..24383520, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene MPRA-validated peak5732 silencer Neighboring gene small nucleolar RNA SNORD46 Neighboring gene neurensin 1 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr6:24323956-24324653 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:24360012-24360600 Neighboring gene RNA, U6 small nuclear 391, pseudogene Neighboring gene kidney associated DCDC2 antisense RNA 1 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:24400121-24400856 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:24400857-24401592 Neighboring gene Sharpr-MPRA regulatory region 326 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:24403801-24404535 Neighboring gene magnesium transporter MRS2 Neighboring gene MPRA-validated peak5733 silencer Neighboring gene glycosylphosphatidylinositol specific phospholipase D1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16989 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16990 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24152 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24153 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16991 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16992 Neighboring gene aldehyde dehydrogenase 5 family member A1 Neighboring gene uncharacterized LOC124901277

    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. The influence of DCDC2 risk genetic variants on reading: Testing main and haplotypic effects. Riva V, et al. Neuropsychologia, 2019 Jul. PMID 29803723
    2. DCDC2 polymorphism is associated with left temporoparietal gray and white matter structures during development. Darki F, et al. J Neurosci, 2014 Oct 22. PMID 25339756, Free PMC Article
    3. The genetics of reading disability. Petryshen TL, et al. Curr Psychiatry Rep, 2009 Apr. PMID 19302769
    4. The DCDC2 intron 2 deletion impairs illusory motion perception unveiling the selective role of magnocellular-dorsal stream in reading (dis)ability. Gori S, et al. Cereb Cortex, 2015 Jun. PMID 25270309
    5. Strong motion deficits in dyslexia associated with DCDC2 gene alteration. Cicchini GM, et al. J Neurosci, 2015 May 27. PMID 26019324, Free PMC Article

    See all (89) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. DCDC2 inhibits hepatic stellate cell activation and ameliorates CCl4-induced liver fibrosis by suppressing Wnt/beta-catenin signaling.
      Title: DCDC2 inhibits hepatic stellate cell activation and ameliorates CCl(4)-induced liver fibrosis by suppressing Wnt/β-catenin signaling.
    2. Developmental dyslexia susceptibility genes DNAAF4, DCDC2, and NRSN1 are associated with brain function in fluently reading adolescents and young adults.
      Title: Developmental dyslexia susceptibility genes DNAAF4, DCDC2, and NRSN1 are associated with brain function in fluently reading adolescents and young adults.
    3. Biallelic known and novel DCDC2 variants in cholestatic liver disease: Phenotype-genotype observations in four children.
      Title: Biallelic known and novel DCDC2 variants in cholestatic liver disease: Phenotype-genotype observations in four children.
    4. Integration of GWAS and brain transcriptomic analyses in a multiethnic sample of 35,245 older adults identifies DCDC2 gene as predictor of episodic memory maintenance.
      Title: Integration of GWAS and brain transcriptomic analyses in a multiethnic sample of 35,245 older adults identifies DCDC2 gene as predictor of episodic memory maintenance.
    5. Two cases of DCDC2-related neonatal sclerosing cholangitis with developmental delay and literature review.
      Title: Two cases of DCDC2-related neonatal sclerosing cholangitis with developmental delay and literature review.
    6. Identifying Dyslexia: Link between Maze Learning and Dyslexia Susceptibility Gene, DCDC2, in Young Children.
      Title: Identifying Dyslexia: Link between Maze Learning and Dyslexia Susceptibility Gene, DCDC2, in Young Children.
    7. Biallelic mutations in DCDC2 cause neonatal sclerosing cholangitis in a Chinese family.
      Title: Biallelic mutations in DCDC2 cause neonatal sclerosing cholangitis in a Chinese family.
    8. White matter deficits correlate with visual motion perception impairments in dyslexic carriers of the DCDC2 genetic risk variant.
      Title: White matter deficits correlate with visual motion perception impairments in dyslexic carriers of the DCDC2 genetic risk variant.
    9. Do Genes Associated with Dyslexia of Chinese Characters Evolve Neutrally?
      Title: Do Genes Associated with Dyslexia of Chinese Characters Evolve Neutrally?
    10. Nephronophthisis due to a novel DCDC2 variant in a patient from African-Caribbean descent: A case report.
      Title: Nephronophthisis due to a novel DCDC2 variant in a patient from African-Caribbean descent: A case report.
    Submit: New GeneRIF Correction See all GeneRIFs (59)

    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
    Autosomal recessive nonsyndromic hearing loss 66
    MedGen: C1857750 OMIM: 610212 GeneReviews: Not available
    		Compare labs
    Isolated neonatal sclerosing cholangitis
    MedGen: C4479344 OMIM: 617394 GeneReviews: Not available
    		Compare labs
    Nephronophthisis 19
    MedGen: C4015542 OMIM: 616217 GeneReviews: Nephronophthisis-Related Ciliopathies
    		Compare labs

    EBI GWAS Catalog

    Description
    A genome-wide association study of serum uric acid in African Americans.
    EBI GWAS Catalog
    Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction.
    EBI GWAS Catalog
    Whole genome association scan for genetic polymorphisms influencing information processing speed.
    EBI GWAS Catalog

    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

    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

    • KIAA1154

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables kinesin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cellular defense response TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in dendrite morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in intracellular signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in neuron migration IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in neuron migration ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in neuron migration NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of smoothened signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of Wnt signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in sensory perception of sound IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in axoneme IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in axoneme IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in centriolar satellite IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cilium IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in kinocilium IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in kinocilium ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in microtubule IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in microtubule cytoskeleton IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in microtubule organizing center IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitotic spindle IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    doublecortin domain-containing protein 2
    Names
    nephronophthisis 19

    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_012829.2 RefSeqGene

      Range
      30234..216538
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001195610.2 → NP_001182539.1  doublecortin domain-containing protein 2

      See identical proteins and their annotated locations for NP_001182539.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AB032980, AI858903, AL359389, AL359713, BC050704, FO393410
      Consensus CDS
      CCDS4550.1
      UniProtKB/Swiss-Prot
      Q5VTR8, Q5VTR9, Q86W35, Q9UFD1, Q9UHG0, Q9UHG1, Q9ULR6
      Conserved Domains (3) summary
      cd01617
      Location:17 → 96
      DCX; Ubiquitin-like domain of DCX
      smart00537
      Location:134 → 221
      DCX; Domain in the Doublecortin (DCX) gene product
      cl22451
      Location:299 → 419
      ASF1_hist_chap; ASF1 like histone chaperone

    2. NM_016356.5 → NP_057440.2  doublecortin domain-containing protein 2

      See identical proteins and their annotated locations for NP_057440.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AF181721, AI858903, AL359389, AL359713, FO393410
      Consensus CDS
      CCDS4550.1
      UniProtKB/Swiss-Prot
      Q5VTR8, Q5VTR9, Q86W35, Q9UFD1, Q9UHG0, Q9UHG1, Q9ULR6
      Related
      ENSP00000367715.3, ENST00000378454.8
      Conserved Domains (3) summary
      cd01617
      Location:17 → 96
      DCX; Ubiquitin-like domain of DCX
      smart00537
      Location:134 → 221
      DCX; Domain in the Doublecortin (DCX) gene product
      cl22451
      Location:299 → 419
      ASF1_hist_chap; ASF1 like histone chaperone

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      24171755..24383292 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      24043591..24253315 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UHG0.2 GenPept UniProtKB/Swiss-Prot:Q9UHG0

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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