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

Gene ID: 51473, updated on 5-Mar-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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Location:
6p22.3
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (24171755..24383292, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (24043591..24253315, complement)
105.20220307 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
  • 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. Biallelic known and novel DCDC2 variants in cholestatic liver disease: Phenotype-genotype observations in four children. Azabdaftari A, et al. Liver Int, 2023 May. PMID 36938759
  2. 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. Gao Y, et al. Alzheimers Dement, 2022 Oct. PMID 34873813, Free PMC Article
  3. White matter deficits correlate with visual motion perception impairments in dyslexic carriers of the DCDC2 genetic risk variant. Perani D, et al. Exp Brain Res, 2021 Sep. PMID 34228165, Free PMC Article
  4. Identifying Dyslexia: Link between Maze Learning and Dyslexia Susceptibility Gene, DCDC2, in Young Children. Gabel LA, et al. Dev Neurosci, 2021. PMID 34186533, Free PMC Article
  5. Two cases of DCDC2-related neonatal sclerosing cholangitis with developmental delay and literature review. Syryn H, et al. Clin Genet, 2021 Oct. PMID 34155636

See all (86) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. Do Genes Associated with Dyslexia of Chinese Characters Evolve Neutrally?
    Title: Do Genes Associated with Dyslexia of Chinese Characters Evolve Neutrally?
  8. 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.
  9. Effect of READ1 on latent profiles of reading disorder and comorbid attention and language impairment subtypes.
    Title: Effect of READ1 on latent profiles of reading disorder and comorbid attention and language impairment subtypes.
  10. DCDC2 READ1 regulatory element: how temporal processing differences may shape language.
    Title: DCDC2 READ1 regulatory element: how temporal processing differences may shape language.
Submit: New GeneRIF Correction See all GeneRIFs (57)

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_2023_10

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.

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