AUTS2

AUTS2, activator of transcription and developmental regulator is a protein that in humans is encoded by the AUTS2 gene.

AUTS2
Identifiers
Aliases	AUTS2, FBRSL2, MRD26, activator of transcription and developmental regulator, activator of transcription and developmental regulator AUTS2
External IDs	OMIM: 607270; MGI: 1919847; HomoloGene: 22907; GeneCards: AUTS2; OMA:AUTS2 - orthologs
Gene location (Human) Chr. Chromosome 7 (human) Band 7q11.22 Start 69,598,296 bp End 70,793,506 bp
Gene location (Mouse) Chr. Chromosome 5 (mouse) Band 5|5 G2 Start 131,466,171 bp End 132,572,183 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in tibia ganglionic eminence bronchial epithelial cell sural nerve mucosa of paranasal sinus parotid gland lactiferous duct dorsal motor nucleus of vagus nerve skin of thigh external globus pallidus Top expressed in lacrimal gland zygote fossa ganglionic eminence condyle medial ganglionic eminence ascending aorta nucleus accumbens transitional epithelium of urinary bladder amygdala More reference expression data BioGPS n/a
Gene ontology Molecular function chromatin binding protein binding molecular function Cellular component nucleus growth cone cytoplasm cytoskeleton cell projection cellular component actin cytoskeleton Biological process positive regulation of histone H3-K4 methylation positive regulation of transcription by RNA polymerase II positive regulation of histone H4-K16 acetylation transcription, DNA-templated regulation of transcription, DNA-templated biological process neuron migration positive regulation of lamellipodium assembly actin cytoskeleton reorganization positive regulation of Rac protein signal transduction axon extension dendrite extension righting reflex innate vocalization behavior forebrain neuron development embryonic viscerocranium morphogenesis neuron cellular homeostasis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 26053 319974 Ensembl ENSG00000158321 ENSMUSG00000029673 UniProt Q8WXX7 A0A087WPF7 RefSeq (mRNA) NM_001127231 NM_001127232 NM_015570 NM_001363480 RefSeq (protein) NP_001120703 NP_001120704 NP_056385 NP_001350409 Location (UCSC) Chr 7: 69.6 – 70.79 Mb Chr 5: 131.47 – 132.57 Mb PubMed search
Wikidata
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Function

This gene has been implicated in neurodevelopment and as a candidate gene for numerous neurological disorders, including autism spectrum disorders, intellectual disability, and developmental delay. Mutations in this gene have also been associated with non-neurological disorders, such as acute lymphoblastic leukemia, aging of the skin, early-onset androgenetic alopecia, and certain cancers.

Further reading

• Gratacòs M, Costas J, de Cid R, Bayés M, González JR, Baca-García E, de Diego Y, Fernández-Aranda F, Fernández-Piqueras J, Guitart M, Martín-Santos R, Martorell L, Menchón JM, Roca M, Sáiz-Ruiz J, Sanjuán J, Torrens M, Urretavizcaya M, Valero J, Vilella E, Estivill X, Carracedo A (2009). "Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment". Am. J. Med. Genet. B Neuropsychiatr. Genet. 150B (6): 808–16. doi:10.1002/ajmg.b.30902. PMID 19086053. S2CID 44524739.
• Trynka G, Zhernakova A, Romanos J, Franke L, Hunt KA, Turner G, Bruinenberg M, Heap GA, Platteel M, Ryan AW, de Kovel C, Holmes GK, Howdle PD, Walters JR, Sanders DS, Mulder CJ, Mearin ML, Verbeek WH, Trimble V, Stevens FM, Kelleher D, Barisani D, Bardella MT, McManus R, van Heel DA, Wijmenga C (2009). "Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling". Gut. 58 (8): 1078–83. doi:10.1136/gut.2008.169052. PMID 19240061. S2CID 17111427.
• Elia J, Gai X, Xie HM, Perin JC, Geiger E, Glessner JT, D'arcy M, deBerardinis R, Frackelton E, Kim C, Lantieri F, Muganga BM, Wang L, Takeda T, Rappaport EF, Grant SF, Berrettini W, Devoto M, Shaikh TH, Hakonarson H, White PS (2010). "Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes". Mol. Psychiatry. 15 (6): 637–46. doi:10.1038/mp.2009.57. PMC 2877197. PMID 19546859.
• Hamshere ML, Green EK, Jones IR, Jones L, Moskvina V, Kirov G, Grozeva D, Nikolov I, Vukcevic D, Caesar S, Gordon-Smith K, Fraser C, Russell E, Breen G, St Clair D, Collier DA, Young AH, Ferrier IN, Farmer A, McGuffin P, Holmans PA, Owen MJ, O'Donovan MC, Craddock N (2009). "Genetic utility of broadly defined bipolar schizoaffective disorder as a diagnostic concept". Br J Psychiatry. 195 (1): 23–9. doi:10.1192/bjp.bp.108.061424. PMC 2802523. PMID 19567891.
• Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE, Hingorani AD (2009). "Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip". Am. J. Hum. Genet. 85 (5): 628–42. doi:10.1016/j.ajhg.2009.10.014. PMC 2775832. PMID 19913121.
• Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR (2010). "Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score". Mol. Med. 16 (7–8): 247–53. doi:10.2119/molmed.2009.00159. PMC 2896464. PMID 20379614.
• Saus E, Brunet A, Armengol L, Alonso P, Crespo JM, Fernández-Aranda F, Guitart M, Martín-Santos R, Menchón JM, Navinés R, Soria V, Torrens M, Urretavizcaya M, Vallès V, Gratacòs M, Estivill X (2010). "Comprehensive copy number variant (CNV) analysis of neuronal pathways genes in psychiatric disorders identifies rare variants within patients". J Psychiatr Res. 44 (14): 971–8. doi:10.1016/j.jpsychires.2010.03.007. PMID 20398908.
• Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC, Anand S (2010). "Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study". Diabetes Care. 33 (10): 2250–3. doi:10.2337/dc10-0452. PMC 2945168. PMID 20628086.
• Huang XL, Zou YS, Maher TA, Newton S, Milunsky JM (2010). "A de novo balanced translocation breakpoint truncating the autism susceptibility candidate 2 (AUTS2) gene in a patient with autism". Am. J. Med. Genet. A. 152A (8): 2112–4. doi:10.1002/ajmg.a.33497. PMID 20635338. S2CID 205312932.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.