Misplaced Pages

KIAA0319
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2E7M
Identifiers
Aliases	KIAA0319, DYLX2, DYX2, NMIG, AAVR
External IDs	OMIM: 609269; MGI: 3036268; HomoloGene: 8878; GeneCards: KIAA0319; OMA:KIAA0319 - orthologs
Gene location (Human) Chr. Chromosome 6 (human) Band 6p22.3 Start 24,544,104 bp End 24,646,191 bp
Gene location (Mouse) Chr. Chromosome 13 (mouse) Band 13|13 A3.1 Start 25,029,118 bp End 25,085,253 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in middle temporal gyrus Brodmann area 23 gonad primary visual cortex endothelial cell entorhinal cortex Brodmann area 9 superior frontal gyrus prefrontal cortex lateral nuclear group of thalamus Top expressed in lumbar spinal ganglion ventromedial nucleus olfactory epithelium lateral septal nucleus primary motor cortex paraventricular nucleus of hypothalamus mammillary body lateral hypothalamus prefrontal cortex cingulate gyrus More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding Cellular component integral component of membrane endosome early endosome early endosome membrane membrane plasma membrane clathrin-coated vesicle membrane intracellular membrane-bounded organelle cytoplasmic vesicle Biological process multicellular organism development neuron migration nervous system development negative regulation of dendrite development membrane organization Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 9856 210108 Ensembl ENSG00000137261 ENSMUSG00000006711 UniProt Q5VV43 Q5SZV5 RefSeq (mRNA) NM_001168374 NM_001168375 NM_001168376 NM_001168377 NM_001252328 NM_014809 NM_001350403 NM_001350404 NM_001350405 NM_001350406 NM_001350407 NM_001350408 NM_001350409 NM_001350410 NM_001081051 RefSeq (protein) NP_001161846 NP_001161847 NP_001161848 NP_001161849 NP_001239257 NP_055624 NP_001337332 NP_001337333 NP_001337334 NP_001337335 NP_001337336 NP_001337337 NP_001337338 NP_001337339 NP_001074520 Location (UCSC) Chr 6: 24.54 – 24.65 Mb Chr 13: 25.03 – 25.09 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

Dyslexia-associated protein KIAA0319 is a protein which in humans is encoded by the KIAA0319 gene.

Clinical significance

Variants of the KIAA0319 gene have been associated with developmental dyslexia. 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 this disorder, with heritable variation estimated at 50 to 70%.

Mutations in the gene also more generally appear to play a key role in specific language impairment (SLI).

Function

The KIAA0319 protein is expressed on the cell membrane and may be involved in neuronal migration. Furthermore, KIAA0319 follows a clathrin-mediated endocytic pathway.

References

1. ^ GRCh38: Ensembl release 89: ENSG00000137261 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000006711 – 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. ^ "Entrez Gene: KIAA0319 KIAA0319".
6. Nagase T, Ishikawa K, Nakajima D, Ohira M, Seki N, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (April 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 Research. 4 (2): 141–50. doi:10.1093/dnares/4.2.141. PMID 9205841.
7. Cope N, Harold D, Hill G, Moskvina V, Stevenson J, Holmans P, Owen MJ, O'Donovan MC, Williams J (April 2005). "Strong evidence that KIAA0319 on chromosome 6p is a susceptibility gene for developmental dyslexia". American Journal of Human Genetics. 76 (4): 581–91. doi:10.1086/429131. PMC 1199296. PMID 15717286.
8. Paracchini S, Thomas A, Castro S, Lai C, Paramasivam M, Wang Y, et al. (May 2006). "The chromosome 6p22 haplotype associated with dyslexia reduces the expression of KIAA0319, a novel gene involved in neuronal migration". Human Molecular Genetics. 15 (10): 1659–66. doi:10.1093/hmg/ddl089. hdl:11858/00-001M-0000-0012-C979-F. PMID 16600991.
9. Rice ML, Smith SD, Gayán J (December 2009). "Convergent genetic linkage and associations to language, speech and reading measures in families of probands with Specific Language Impairment". Journal of Neurodevelopmental Disorders. 1 (4): 264–82. doi:10.1007/s11689-009-9031-x. PMC 2788915. PMID 19997522.
10. Gibson CJ, Gruen JR (2008). "The human lexinome: genes of language and reading". Journal of Communication Disorders. 41 (5): 409–20. doi:10.1016/j.jcomdis.2008.03.003. PMC 2488410. PMID 18466916.
11. Levecque C, Velayos-Baeza A, Holloway ZG, Monaco AP (July 2009). "The dyslexia-associated protein KIAA0319 interacts with adaptor protein 2 and follows the classical clathrin-mediated endocytosis pathway". American Journal of Physiology. Cell Physiology. 297 (1): C160-8. doi:10.1152/ajpcell.00630.2008. PMC 2711651. PMID 19419997.

Further reading

• Ozçelik T, Porteus MH, Rubenstein JL, Francke U (August 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. doi:10.1016/0888-7543(92)90031-M. PMID 1354641.
• Cardon LR, Smith SD, Fulker DW, Kimberling WJ, Pennington BF, DeFries JC (October 1994). "Quantitative trait locus for reading disability on chromosome 6". Science. 266 (5183): 276–9. Bibcode:1994Sci...266..276C. doi:10.1126/science.7939663. PMID 7939663.
• Gayán J, Smith SD, Cherny SS, Cardon LR, Fulker DW, Brower AM, Olson RK, Pennington BF, DeFries JC (January 1999). "Quantitative-trait locus for specific language and reading deficits on chromosome 6p". American Journal of Human Genetics. 64 (1): 157–64. doi:10.1086/302191. PMC 1377713. PMID 9915954.
• Nakayama M, Kikuno R, Ohara O (November 2002). "Protein-protein interactions between large proteins: two-hybrid screening using a functionally classified library composed of long cDNAs". Genome Research. 12 (11): 1773–84. doi:10.1101/gr.406902. PMC 187542. PMID 12421765.
• Londin ER, Meng H, Gruen JR (June 2003). "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. PMC 166143. PMID 12834540.
• Francks C, Paracchini S, Smith SD, Richardson AJ, Scerri TS, Cardon LR, Marlow AJ, MacPhie IL, Walter J, Pennington BF, Fisher SE, Olson RK, DeFries JC, Stein JF, Monaco AP (December 2004). "A 77-kilobase region of chromosome 6p22.2 is associated with dyslexia in families from the United Kingdom and from the United States". American Journal of Human Genetics. 75 (6): 1046–58. doi:10.1086/426404. PMC 1182140. PMID 15514892.
• Luciano M, Lind PA, Duffy DL, Castles A, Wright MJ, Montgomery GW, Martin NG, Bates TC (October 2007). "A haplotype spanning KIAA0319 and TTRAP is associated with normal variation in reading and spelling ability". Biological Psychiatry. 62 (7): 811–7. doi:10.1016/j.biopsych.2007.03.007. PMID 17597587. S2CID 11334660.
• Velayos-Baeza A, Toma C, da Roza S, Paracchini S, Monaco AP (September 2007). "Alternative splicing in the dyslexia-associated gene KIAA0319". Mammalian Genome. 18 (9): 627–34. doi:10.1007/s00335-007-9051-3. PMID 17846832. S2CID 42549021.

External links

• KIAA0319 Associations, Experiments, Publications and Clinical Trials

This article on a gene on human chromosome 6 is a stub. You can help Misplaced Pages by expanding it.

• v
• t
• e

• Genes on human chromosome 6
• Dyslexia research
• Human chromosome 6 gene stubs