DCDC2

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DCDC2
Protein DCDC2 PDB 2dnf.png
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesDCDC2, DCDC2A, DFNB66, NPHP19, RU2, RU2S, doublecortin domain containing 2, NSC
External IDsOMIM: 605755 MGI: 2652818 HomoloGene: 9483 GeneCards: DCDC2
Gene location (Human)
Chromosome 6 (human)
Chr.Chromosome 6 (human)[1]
Chromosome 6 (human)
Genomic location for DCDC2
Genomic location for DCDC2
Band6p22.3Start24,171,756 bp[1]
End24,358,052 bp[1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_016356
NM_001195610

NM_001195617
NM_177577

RefSeq (protein)

NP_001182539
NP_057440

NP_001182546
NP_808245

Location (UCSC)Chr 6: 24.17 – 24.36 MbChr 13: 25.06 – 25.21 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Doublecortin domain-containing protein 2 is a protein that in humans is encoded by the DCDC2 gene.[5][6][7]

Function[edit]

This gene encodes a protein with two doublecortin peptide domains. This domain has been demonstrated to bind tubulin and enhance microtubule polymerization.[7]

Clinical significance[edit]

Mutations in this gene have been associated with reading disability (RD), also referred to as developmental dyslexia.[7][8] But this is controverse since a recent study proposed that there is a "low likelihood of a direct deletion effect on reading skills." [9]

Changes in the DCDC2 gene are frequently found among dyslexics. Altered alleles often occur among children with reading and writing difficulties. The gene appears to have a strong linkage with the processing of speech information when writing.[10][11][12]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000146038 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000035910 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ Van Den Eynde BJ, Gaugler B, Probst-Kepper M, Michaux L, Devuyst O, Lorge F, Weynants P, Boon T (Jan 2000). "A new antigen recognized by cytolytic T lymphocytes on a human kidney tumor results from reverse strand transcription". J Exp Med. 190 (12): 1793–800. doi:10.1084/jem.190.12.1793. PMC 2195717Freely accessible. PMID 10601354. 
  6. ^ Hirosawa M, Nagase T, Ishikawa K, Kikuno R, Nomura N, Ohara O (Jan 2000). "Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain". DNA Res. 6 (5): 329–36. doi:10.1093/dnares/6.5.329. PMID 10574461. 
  7. ^ a b c "Entrez Gene: DCDC2 doublecortin domain containing 2". 
  8. ^ Lind PA, Luciano M, Wright MJ, Montgomery GW, Martin NG, Bates TC (June 2010). "Dyslexia and DCDC2: normal variation in reading and spelling is associated with DCDC2 polymorphisms in an Australian population sample". Eur. J. Hum. Genet. 18 (6): 668–73. doi:10.1038/ejhg.2009.237. PMC 2987340Freely accessible. PMID 20068590. 
  9. ^ The DCDC2 deletion is not a risk factor for dyslexia | Peer reviewed| Date of acceptance: 2017-06-13| https://ora.ox.ac.uk/objects/uuid:812610e3-4d0e-41a9-8c73-6109e677f5ee
  10. ^ Meng H, Smith SD, Hager K, Held M, Liu J, Olson RK, Pennington BF, DeFries JC, Gelernter J, O'Reilly-Pol T, Somlo S, Skudlarski P, Shaywitz SE, Shaywitz BA, Marchione K, Wang Y, Paramasivam M, LoTurco JJ, Page GP, Gruen JR (November 2005). "DCDC2 is associated with reading disability and modulates neuronal development in the brain". Proc. Natl. Acad. Sci. U.S.A. 102 (47): 17053–8. doi:10.1073/pnas.0508591102. PMC 1278934Freely accessible. PMID 16278297. Lay summarySciencedaily. 
  11. ^ Schumacher, J.; Anthoni H.; Dadouh F.; et al. (Jan 2006). "Strong genetic evidence of DCDC2 as a susceptibility gene for dyslexia" (PDF). The American Journal of Human Genetics. 78 (1): 52–62. doi:10.1086/498992. PMC 1380223Freely accessible. PMID 16385449. Archived from the original (PDF) on 2013-05-15. 
  12. ^ Marino C, Meng H, Mascheretti S, Rusconi M, Cope N, Giorda R, Molteni M, Gruen JR (February 2012). "DCDC2 genetic variants and susceptibility to developmental dyslexia". Psychiatr. Genet. 22 (1): 25–30. doi:10.1097/YPG.0b013e32834acdb2. PMC 3232293Freely accessible. PMID 21881542. 

Further reading[edit]