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Wikipedia

AUTS2

AUTS2, activator of transcription and developmental regulator is a protein that in humans is encoded by the AUTS2 gene. [5]

AUTS2
Identifiers
AliasesAUTS2, FBRSL2, MRD26, activator of transcription and developmental regulator, activator of transcription and developmental regulator AUTS2
External IDsOMIM: 607270; MGI: 1919847; HomoloGene: 22907; GeneCards: AUTS2; OMA:AUTS2 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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 MbChr 5: 131.47 – 132.57 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function edit

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.

References edit

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000158321 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000029673 – 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: AUTS2, activator of transcription and developmental regulator". Retrieved 2017-09-12.

Further reading edit

  • 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.


auts2, activator, transcription, developmental, regulator, protein, that, humans, encoded, gene, identifiersaliases, fbrsl2, mrd26, activator, transcription, developmental, regulator, activator, transcription, developmental, regulator, external, idsomim, 60727. AUTS2 activator of transcription and developmental regulator is a protein that in humans is encoded by the AUTS2 gene 5 AUTS2IdentifiersAliasesAUTS2 FBRSL2 MRD26 activator of transcription and developmental regulator activator of transcription and developmental regulator AUTS2External IDsOMIM 607270 MGI 1919847 HomoloGene 22907 GeneCards AUTS2 OMA AUTS2 orthologsGene location Human Chr Chromosome 7 human 1 Band7q11 22Start69 598 296 bp 1 End70 793 506 bp 1 Gene location Mouse Chr Chromosome 5 mouse 2 Band5 5 G2Start131 466 171 bp 2 End132 572 183 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed intibiaganglionic eminencebronchial epithelial cellsural nerveparotid glandlactiferous ductexternal globus pallidustrigeminal ganglionrenal medullatracheaTop expressed inlacrimal glandfossaganglionic eminencecondylemedial ganglionic eminenceascending aortanucleus accumbensamygdalahandolfactory bulbMore reference expression dataBioGPSn aGene ontologyMolecular functionchromatin binding protein binding molecular functionCellular componentnucleus growth cone cytoplasm cytoskeleton cell projection cellular component actin cytoskeletonBiological processpositive 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 homeostasisSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez26053319974EnsemblENSG00000158321ENSMUSG00000029673UniProtQ8WXX7A0A087WPF7RefSeq mRNA NM 001127231NM 001127232NM 015570NM 001363480RefSeq protein NP 001120703NP 001120704NP 056385NP 001350409Location UCSC Chr 7 69 6 70 79 MbChr 5 131 47 132 57 MbPubMed search 3 4 WikidataView Edit HumanView Edit MouseFunction editThis 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 References edit a b c GRCh38 Ensembl release 89 ENSG00000158321 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000029673 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Entrez Gene AUTS2 activator of transcription and developmental regulator Retrieved 2017 09 12 Further reading editGratacos M Costas J de Cid R Bayes M Gonzalez JR Baca Garcia E de Diego Y Fernandez Aranda F Fernandez Piqueras J Guitart M Martin Santos R Martorell L Menchon JM Roca M Saiz Ruiz J Sanjuan 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 Fernandez Aranda F Guitart M Martin Santos R Menchon JM Navines R Soria V Torrens M Urretavizcaya M Valles V Gratacos 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 nbsp This article on a gene on human chromosome 7 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title AUTS2 amp oldid 1182052149, wikipedia, wiki, book, books, library,

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