DCDC2

DCDC2
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2DNF
Identifiers
Aliases	DCDC2 , DCDC2A, DFNB66, NPHP19, RU2, RU2S, doublecortin domain containing 2, NSC
External IDs	OMIM: 605755; MGI: 2652818; HomoloGene: 9483; GeneCards: DCDC2; OMA:DCDC2 - orthologs
Gene location (Human) Chr. Chromosome 6 (human) [1] Band 6p22.3 Start 24,171,755 bp [1] End 24,358,059 bp [1]
Gene location (Mouse) Chr. Chromosome 13 (mouse) [2] Band 13|13 A3.1 Start 25,239,987 bp [2] End 25,394,689 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in secondary oocyte islet of Langerhans caput epididymis body of pancreas human kidney buccal mucosa cell endometrium bronchial epithelial cell pancreatic epithelial cell right uterine tube Top expressed in olfactory epithelium efferent ductule glomerulus inner renal medulla ventricular system Epithelium of choroid plexus medullary collecting duct zygote renal pelvis pancreas More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding kinesin binding Cellular component cytoplasm axoneme cell projection kinocilium cytoskeleton cytosol cilium nucleoplasm microtubule organizing center microtubule cytoskeleton mitotic spindle microtubule cortical actin cytoskeleton Biological process regulation of cilium assembly cellular defense response regulation of Wnt signaling pathway intracellular signal transduction neuron migration cell projection organization hearing positive regulation of smoothened signaling pathway nervous system development cilium assembly dendrite morphogenesis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 51473 195208 Ensembl ENSG00000146038 ENSMUSG00000035910 UniProt Q9UHG0 Q5DU00 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 Mb Chr 13: 25.24 – 25.39 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

Function

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

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

1. GRCh38: Ensembl release 89: ENSG00000146038 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000035910 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
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   2195717 . 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. "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   2987340 . PMID   20068590.
9. Scerri TS, Macpherson E, Martinelli A, Wa WC, Monaco AP, Stein J, Zheng M, Suk-Han C, McBride C, Snowling M, Hulme C, Hayiou-Thomas ME, Waye M, Talcott JB, Paracchini S (2017). "The DCDC2 deletion is not a risk factor for dyslexia". Transl Psychiatry. 7 (7): e1182. doi:10.1038/tp.2017.151. PMC   5538127 . PMID   28742079.
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   1278934 . PMID   16278297.
    • "Novel Discovery Of 'DCDC2' Gene Associated With Dyslexia". ScienceDaily (Press release). October 28, 2005.
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   1380223 . 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   3232293 . PMID   21881542.

Further reading

• Nakajima D, Okazaki N, Yamakawa H, et al. (2003). "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones". DNA Res. 9 (3): 99–106. doi: 10.1093/dnares/9.3.99 . PMID   12168954.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Mungall AJ, Palmer SA, Sims SK, et al. (2003). "The DNA sequence and analysis of human chromosome 6". Nature. 425 (6960): 805–11. Bibcode:2003Natur.425..805M. doi: 10.1038/nature02055 . PMID   14574404.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC   528928 . PMID   15489334.
• Meng H, Smith SD, Hager K, et al. (2006). "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.
• Schumacher J, Anthoni H, Dahdouh F, et al. (2006). "Strong genetic evidence of DCDC2 as a susceptibility gene for dyslexia". Am. J. Hum. Genet. 78 (1): 52–62. doi:10.1086/498992. PMC   1380223 . PMID   16385449.
• Brkanac Z, Chapman NH, Matsushita MM, et al. (2007). "Evaluation of candidate genes for DYX1 and DYX2 in families with dyslexia". Am. J. Med. Genet. B Neuropsychiatr. Genet. 144 (4): 556–60. doi:10.1002/ajmg.b.30471. PMID   17450541. S2CID   43864328.