Dyslexia-associated protein

Dyslexia-associated protein KIAA0319 is a protein which in humans is encoded by the KIAA0319 gene.^[5][6]

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)[1] Band 6p22.3 Start 24,544,104 bp[1] End 24,646,191 bp[1]
Gene location (Mouse) Chr. Chromosome 13 (mouse)[2] Band 13|13 A3.1 Start 25,029,118 bp[2] End 25,085,253 bp[2]
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 [3] [4]
Wikidata
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Clinical significance

Variants of the KIAA0319 gene have been associated with developmental dyslexia.^[7][8] 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%.^[5]

Mutations in the gene also more generally appear to play a key role in specific language impairment (SLI).^[9][10]

Function

Over-expression of C-terminally myc-tagged KIAA0319 protein in transiently transfected 293T cells, showing plasma membrane localization. Detection with monoclonal anti-myc 9E10.

The KIAA0319 protein is expressed on the cell membrane and may be involved in neuronal migration. Furthermore, KIAA0319 follows a clathrin-mediated endocytic pathway.^[11]