KIAA0319

From Wikipedia, the free encyclopedia

KIAA0319

Identifiers

KIAA0319; DLX2; DYLX2; DYX2

External IDs

OMIM: 609269 MGI: 3036268 HomoloGene: 8878

Gene ontology
Molecular Function:	• calcium ion binding
Cellular Component:	• membrane • integral to membrane
Biological Process:	• homophilic cell adhesion

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_014809 (mRNA)
NP_055624 (protein)

XM_111397 (mRNA)
XP_111397 (protein)

Location

Chr 6: 24.65 - 24.75 Mb

Chr 13: 24.85 - 24.91 Mb

Pubmed search

[1]

[2]

KIAA0319, also known as KIAA0319, is a human gene.^[1]

Reading disability, or dyslexia, is a major social, educational, and mental health problem. In spite of average intelligence and adequate educational opportunities, 5 to 10% of school children have substantial reading deficits. Twin and family studies have shown a substantial genetic component to the disorder, with heritable variation estimated at 50 to 70% (see MIM 127700).[supplied by OMIM]^[1]

[edit] References

^ ^a ^b Entrez Gene: KIAA0319 KIAA0319.

[edit] Further reading

Ozçelik T, Porteus MH, Rubenstein JL, Francke U (1992). "DLX2 (TES1), a homeobox gene of the Distal-less family, assigned to conserved regions on human and mouse chromosomes 2.". Genomics 13 (4): 1157–61. PMID 1354641.
Cardon LR, Smith SD, Fulker DW, et al. (1994). "Quantitative trait locus for reading disability on chromosome 6.". Science 266 (5183): 276–9. PMID 7939663.
Nagase T, Ishikawa K, Nakajima D, et al. (1997). "Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.". DNA Res. 4 (2): 141–50. PMID 9205841.
Gayán J, Smith SD, Cherny SS, et al. (1999). "Quantitative-trait locus for specific language and reading deficits on chromosome 6p.". Am. J. Hum. Genet. 64 (1): 157–64. PMID 9915954.
Nakayama M, Kikuno R, Ohara O (2003). "Protein-protein interactions between large proteins: two-hybrid screening using a functionally classified library composed of long cDNAs.". Genome Res. 12 (11): 1773–84. doi:10.1101/gr.406902. PMID 12421765.
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. doi:10.1073/pnas.242603899. PMID 12477932.
Londin ER, Meng H, Gruen JR (2004). "A transcription map of the 6p22.3 reading disability locus identifying candidate genes.". BMC Genomics 4 (1): 25. doi:10.1186/1471-2164-4-25. PMID 12834540.
Mungall AJ, Palmer SA, Sims SK, et al. (2003). "The DNA sequence and analysis of human chromosome 6.". Nature 425 (6960): 805–11. doi:10.1038/nature02055. PMID 14574404.
Francks C, Paracchini S, Smith SD, et al. (2005). "A 77-kilobase region of chromosome 6p22.2 is associated with dyslexia in families from the United Kingdom and from the United States.". Am. J. Hum. Genet. 75 (6): 1046–58. doi:10.1086/426404. PMID 15514892.
Cope N, Harold D, Hill G, et al. (2005). "Strong evidence that KIAA0319 on chromosome 6p is a susceptibility gene for developmental dyslexia.". Am. J. Hum. Genet. 76 (4): 581–91. doi:10.1086/429131. PMID 15717286.
Paracchini S, Thomas A, Castro S, et al. (2006). "The chromosome 6p22 haplotype associated with dyslexia reduces the expression of KIAA0319, a novel gene involved in neuronal migration.". Hum. Mol. Genet. 15 (10): 1659–66. doi:10.1093/hmg/ddl089. PMID 16600991.
Luciano M, Lind PA, Duffy DL, et al. (2007). "A haplotype spanning KIAA0319 and TTRAP is associated with normal variation in reading and spelling ability.". Biol. Psychiatry 62 (7): 811–7. doi:10.1016/j.biopsych.2007.03.007. PMID 17597587.
Velayos-Baeza A, Toma C, da Roza S, et al. (2008). "Alternative splicing in the dyslexia-associated gene KIAA0319.". Mamm. Genome 18 (9): 627–34. doi:10.1007/s00335-007-9051-3. PMID 17846832.