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

    Gene ID: 51473, updated on 4-Jul-2021

    Summary

    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
    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
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    Genomic context

    See DCDC2 in Genome Data Viewer
    Location:
    6p22.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (24171755..24383292, complement)
    105.20201022 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 heterogeneous nuclear ribonucleoprotein A1 pseudogene 58 Neighboring gene neurensin 1 Neighboring gene RNA, U6 small nuclear 391, pseudogene Neighboring gene kidney associated antigen 1 Neighboring gene magnesium transporter MRS2 Neighboring gene glycosylphosphatidylinositol specific phospholipase D1 Neighboring gene aldehyde dehydrogenase 5 family member A1

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    A genome-wide association study of serum uric acid in African Americans.
    GeneReviews: Not available
    Deafness, autosomal recessive 66
    MedGen: C1857750 OMIM: 610212 GeneReviews: Not available
    Compare labs
    Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction.
    GeneReviews: Not available
    Nephronophthisis 19
    MedGen: C4015542 OMIM: 616217 GeneReviews: Nephronophthisis
    Compare labs
    Sclerosing cholangitis, neonatal
    MedGen: C4479344 OMIM: 617394 GeneReviews: Not available
    Compare labs
    Whole genome association scan for genetic polymorphisms influencing information processing speed.
    GeneReviews: Not available

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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
    PubMed 
    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
    PubMed 
    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
    PubMed 
    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
    PubMed 
    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
    PubMed 
    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
    PubMed 
    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
    PubMed 
    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
    PubMed 
    located_in mitotic spindle IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    doublecortin domain-containing protein 2
    Names
    nephronophthisis 19

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001195610.2NP_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
      Q9UHG0
      Conserved Domains (3) summary
      cd01617
      Location:1796
      DCX; Ubiquitin-like domain of DCX
      smart00537
      Location:134221
      DCX; Domain in the Doublecortin (DCX) gene product
      cl22451
      Location:299419
      ASF1_hist_chap; ASF1 like histone chaperone
    2. NM_016356.5NP_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
      Q9UHG0
      Related
      ENSP00000367715.3, ENST00000378454.8
      Conserved Domains (3) summary
      cd01617
      Location:1796
      DCX; Ubiquitin-like domain of DCX
      smart00537
      Location:134221
      DCX; Domain in the Doublecortin (DCX) gene product
      cl22451
      Location:299419
      ASF1_hist_chap; ASF1 like histone chaperone

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

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