DCDC2

Doublecortin domain containing 2

PDB rendering based on 2dnf.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols DCDC2 ; DCDC2A; NPHP19; RU2; RU2S
External IDs OMIM: 605755 MGI: 2652818 HomoloGene: 9483 GeneCards: DCDC2 Gene
Orthologs
Species Human Mouse
Entrez 51473 195208
Ensembl ENSG00000146038 ENSMUSG00000035910
UniProt Q9UHG0 Q5DU00
RefSeq (mRNA) NM_001195610 NM_001195617
RefSeq (protein) NP_001182539 NP_001182546
Location (UCSC) Chr 6:
24.17 – 24.36 Mb
Chr 13:
25.06 – 25.21 Mb
PubMed search

Doublecortin domain-containing protein 2 is a protein that in humans is encoded by the DCDC2 gene.[1][2][3]

Function

This gene encodes a protein with two doublecortin peptide domains. This domain has been demonstrated to bind tubulin and enhance microtubule polymerization.[3]

Clinical significance

Mutations in this gene have been associated with reading disability (RD), also referred to as developmental dyslexia.[3][4]

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.[5][6][7]

References

  1. 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 2195717. PMID 10601354.
  2. 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.
  3. 1 2 3 "Entrez Gene: DCDC2 doublecortin domain containing 2".
  4. 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 2987340. PMID 20068590.
  5. 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 1278934. PMID 16278297. Lay summary Sciencedaily.
  6. 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 1380223. PMID 16385449.
  7. 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 3232293. PMID 21881542.

Further reading

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