Atlas of Genetics and Cytogenetics in Oncology and Haematology

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

AUTS2 (autism susceptibility candidate 2)

Written2013-10Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)


HGNC Alias symbKIAA0442
HGNC Previous nameautism susceptibility candidate 2
LocusID (NCBI) 26053
Atlas_Id 51794
Location 7q11.22  [Link to chromosome band 7q11]
Location_base_pair Starts at 69598475 and ends at 70793506 bp from pter ( according to GRCh38/hg38-Dec_2013)  [Mapping AUTS2.png]
Local_order AUTS2 is close to (about 2.1 Mb) -and proximal to- POM121 (another gene involved in PAX5 translocations in leukemia), and to the Williams-Beuren syndrome critical region.
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
AUTS2 (7q11.22)::ANTXR1 (2p13.3)AUTS2 (7q11.22)::ENPP2 (8q24.12)AUTS2 (7q11.22)::LHFPL6 (13q13.3)
AUTS2 (7q11.22)::MGAT4A (2q11.2)AUTS2 (7q11.22)::MIR548AI (14q12)AUTS2 (7q11.22)::OAF (11q23.3)
AUTS2 (7q11.22)::PNLIPRP3 (10q25.3)AUTS2 (7q11.22)::RAB11FIP4 (17q11.2)AUTS2 (7q11.22)::RRAGA (9p22.1)
AUTS2 (7q11.22)::TBC1D30 (12q14.3)AUTS2 (7q11.22)::TPPP3 (16q22.1)AUTS2 (7q11.22)::TRAM1 (8q13.3)
AUTS2 (7q11.22)::TRIM3 (11p15.4)CD74 (5q32)::AUTS2 (7q11.22)CD81 (11p15.5)::AUTS2 (7q11.22)
EZH2 (7q36.1)::AUTS2 (7q11.22)GALNT2 (1q42.13)::AUTS2 (7q11.22)HNRNPA2B1 (7p15.2)::AUTS2 (7q11.22)
OAF (11q23.3)::AUTS2 (7q11.22)PAX5 (9p13.2)::AUTS2 (7q11.22)PGP (16p13.3)::AUTS2 (7q11.22)
PTBP2 (1p21.3)::AUTS2 (7q11.22)SEMA3C (7q21.11)::AUTS2 (7q11.22)SLX4 (16p13.3)::AUTS2 (7q11.22)
TIMP2 (17q25.3)::AUTS2 (7q11.22)WASHC4 (12q23.3)::AUTS2 (7q11.22)ZNF592 (15q25.3)::AUTS2 (7q11.22)


Description The gene spans 1.19 Mb. 19 coding exons.
Transcription There are 16 transcripts (splice variants). Six transcripts contains an open reading frame.


  AUTS2 protein and domains.
Description 1259 amino acids (aa); from N-term to C-term, AUTS2 contains: nuclear localization sequences (aa: 11-27; 70-79; 120-141); Pro-rich regions (aa: 288-471; 544-646); a Dwarfin consensus sequence (aa: 325-453); a Ser-rich region (aa: 383-410); a PY motif (aa: 515-519); a hexanucleotide repeat (aa: 524-540; (cagcac/cagcac/cagcac/cagcac/acc/cac/cagcac/cagcac/cagcac) at nucleotide 1901-1949 (exon 9)); His-rich regions (aa: 525-548, 1122-1181); a Fibrosin homology region (aa: 645-798); a topoisomerase homology region (aa: 880-920); a trinucleotide repeat (aa: 1126-1133 (cac)8, at nucleotide 3701-3732 (exon 19)), and also N-glycosylation sites (aa 395-398, 785-788, 955-958, 1009-1012), cAMP and cGMP- dependent protein kinase phosphorylation sites (aa: 13-16, 77-80, 116-119, 832-835, 849-852, 975-978, 1235-1238), SH3 interaction domains (P67, P72, P73, P266, P332, P361, P364, P467, P468, P471, P638, P806, P1234), and a SH2 interaction domain (Y971) (Sultana et al., 2002; Bedogni et al., 2010b; Oksenberg and Ahituv, 2013).
Expression AUTS2 is primarily expressed in the central nervous system, and also in skeletal muscle and kidney, and with lower expression in other tissues (placenta, lung, and leukocytes) (Sultana et al., 2002). AUTS2 is highly expressed in the embryo, and in more restricted areas in the adult (Oksenberg and Ahituv, 2013).
Auts2 in the mouse embryo is expressed in the cortical preplate, in frontal cortex, hippocampus and cerebellum, including Purkinje cells and deep nuclei, in developing dorsal thalamus, olfactory bulb, inferior colliculus and substantia nigra (Bedogni et al., 2010a).
Localisation AUTS2 is a nuclear protein.
Function TBR1, a postmitotic projection-neuron specific transcription factor, binds the AUTS2 promoter and activates AUTS2 in developing neocortex in vivo (Bedogni et al., 2010b; Srinivasan et al., 2012). Suppression of auts2 in zebrafish embryos caused microcephaly, and a reduction in developing midbrain neurons and also in sensory and motor neurons (Beunders et al., 2013; Oksenberg et al., 2013). ZMAT3 (a target gene of TP53) downregulation produced significant reductions in AUTS2 mRNA levels (Sedaghat et al., 2012).
Enhancers that were mutated in patients with dyslexia or with autism spectrum disorder were described; AUTS2 has been found as a rapidly evolving gene in homo sapiens sapiens, compared to Neanderthals, and non-human primates. It is suggested that AUTS2 has an important role in the evolution of human cognitive traits (Oksenberg et al., 2013).

Implicated in

Note PAX5 is involved in B-cell differentiation. Entry of common lymphoid progenitors into the B cell lineage depends on E2A, EBF1, and PAX5. Genes repressed by PAX5 expression in early B cells are restored in their function in mature B cells and plasma cells, and PAX5 repressed (Medvedovic et al., 2011).
Disease Pediatric B-cell precursor acute lymphoblastic leukemia (BCP-ALL).
Prognosis Three cases to date, two boys and one girl, aged 0.6, 2.8, and 3.1 years (Kawamata 2008; Coyaud et al., 2010; Denk et al., 2012). Two patients presented with a high WBC, and also had a central nervous system involvement at a time during course of the disease. Patients were assigned to different risk arms of the respective clinical trials, as noted by Denk et al., 2012. The three patients achieved complete remission (CR), but two (those with high risk features) relapsed and died at 1.7 and 3.4 years after diagnosis, indicating a rather poor outcome (Denk et al., 2012). Only one patient is still in CR and well 2.2 years after diagnosis.
Cytogenetics The t(7;9)(q11;p13) was the sole abnormality in one case. Unbalanced translocation in two cases, due to the loss of the der(7)t(7;9).
Hybrid/Mutated Gene 5' PAX5-3' AUTS2. Fusion of PAX5 exon 6 to AUTS2 exon 4 or 6.
Abnormal Protein 1289 or 1311 amino acids depending on whether exon 6 or 4 of AUTS2 is fused to PAX5. The predicted fusion protein contains the paired domain, the octapeptide, and the homeodomain of PAX5 and the proline rich, the Dwarfin consensus sequence, the serine rich, the PY motif, the hexanucleotide repeat, the histidine rich, the fibrosin homology region, the topoisomerase homology region, and the trinucleotide repeat of AUTS2.
Fusion protein PAX5/AUTS2.
Entity Other cancers
Disease Loss of heterozygocity was found in an adenocarcinoma of the lung, but more data is needed (Weir et al., 2007). Copy number variation was found in a single case of mixed germ cell tumor containing yolk sac tumor and teratoma (Stadler et al., 2012).
Entity Syndromic phenotype, mental retardation, neurodevelopmental and psychiatric disorders, including autism spectrum disorder
Note A review in Oksenberg and Ahituv, 2013 shows a map of the gene with the structural variants and abnormalities in relation to the various phenotypes described.
Disease Syndromic phenotype: A study on 24 patients with deletions of part of AUTS2 allowed the identification of a variable syndromic phenotype including intellectual disability, autism, short stature, microcephaly, cerebral palsy, and facial dysmorphisms. The authors delineated an "AUTS2 syndrome severity score" of the phenotypic diversity, that correlated with genotypic data: individuals with deletions in the 5' part of the gene showed a milder phenotype than those with a deletion in the 3' part of the gene (Beunders et al., 2013).
Mental retardation: A patient with developmental delay had an intragenic deletion within AUTS2 (Jolley et al., 2013). Three unrelated mentally disabled patients were found to carry a balanced translocation that truncates AUTS2. Patients were borderline or severely mentally retarded and carried different deletions in AUTS2 (Kalscheuer et al., 2007). AUTS2 has been found disrupted in balanced chromosomal abnormality in patients with abnormal neurodevelopment (Huang et al., 2010; Talkowski et al., 2012).
Autism spectrum disorder (ASD): Small copy-number variations (CNVs) that disrupt AUTS2 (duplications or deletions of exons) were found in two patients with developmental delay, and two with autism spectrum disorder (Nagamani et al., 2013). AUTS2 has been found disrupted in a monozygotic twin pair concordant for autism (Sultana et al., 2002). Duplication in the AUTS2 gene was identified in a family with ASD (Ben-David et al., 2011).
Pathological behaviour: A variant in AUTS2 was associated with excessive alcohol consumption (Edenberg and Foroud, 2013; Kapoor et al., 2013). AUTS2 variants (rs6943 allele A) are correlated with heroin dependence, and reduced AUTS2 gene expression might confer increased susceptibility (Chen et al., 2013). rs6943555 A allele was also found associated with alcohol consumption (Schumann et al., 2011), and with suicide committed after drinking (Chojnicka et al., 2013). Amino acids sequence variant in AUTS2 were found in a large family with high risk for suicide, but also with a significant co-morbidity for affective disorders, alcohol disorders, psychotic disorders, and drug abuse disorders (Coon et al., 2013).
Epilepsy: AUTS2 deletions were identified in one patient with juvenile myoclonic epilepsy and in another patient with an unclassified 'non-lesional epilepsy with features of atypical benign partial epilepsy' (Mefford et al., 2010).


Tbr1 regulates regional and laminar identity of postmitotic neurons in developing neocortex.
Bedogni F, Hodge RD, Elsen GE, Nelson BR, Daza RA, Beyer RP, Bammler TK, Rubenstein JL, Hevner RF.
Proc Natl Acad Sci U S A. 2010b Jul 20;107(29):13129-34. doi: 10.1073/pnas.1002285107. Epub 2010 Jul 6.
PMID 20615956
Identification of a functional rare variant in autism using genome-wide screen for monoallelic expression.
Ben-David E, Granot-Hershkovitz E, Monderer-Rothkoff G, Lerer E, Levi S, Yaari M, Ebstein RP, Yirmiya N, Shifman S.
Hum Mol Genet. 2011 Sep 15;20(18):3632-41. doi: 10.1093/hmg/ddr283. Epub 2011 Jun 16.
PMID 21680558
Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.
Beunders G, Voorhoeve E, Golzio C, Pardo LM, Rosenfeld JA, Talkowski ME, Simonic I, Lionel AC, Vergult S, Pyatt RE, van de Kamp J, Nieuwint A, Weiss MM, Rizzu P, Verwer LE, van Spaendonk RM, Shen Y, Wu BL, Yu T, Yu Y, Chiang C, Gusella JF, Lindgren AM, Morton CC, van Binsbergen E, Bulk S, van Rossem E, Vanakker O, Armstrong R, Park SM, Greenhalgh L, Maye U, Neill NJ, Abbott KM, Sell S, Ladda R, Farber DM, Bader PI, Cushing T, Drautz JM, Konczal L, Nash P, de Los Reyes E, Carter MT, Hopkins E, Marshall CR, Osborne LR, Gripp KW, Thrush DL, Hashimoto S, Gastier-Foster JM, Astbury C, Ylstra B, Meijers-Heijboer H, Posthuma D, Menten B, Mortier G, Scherer SW, Eichler EE, Girirajan S, Katsanis N, Groffen AJ, Sistermans EA.
Am J Hum Genet. 2013 Feb 7;92(2):210-20. doi: 10.1016/j.ajhg.2012.12.011. Epub 2013 Jan 17.
PMID 23332918
Genetic analysis of AUTS2 as a susceptibility gene of heroin dependence.
Chen YH, Liao DL, Lai CH, Chen CH.
Drug Alcohol Depend. 2013 Mar 1;128(3):238-42. doi: 10.1016/j.drugalcdep.2012.08.029. Epub 2012 Sep 17.
PMID 22995765
Possible association between suicide committed under influence of ethanol and a variant in the AUTS2 gene.
Chojnicka I, Gajos K, Strawa K, Broda G, Fudalej S, Fudalej M, Stawin'ski P, Pawlak A, Krajewski P, Wojnar M, P?oski R.
PLoS One. 2013;8(2):e57199. doi: 10.1371/journal.pone.0057199. Epub 2013 Feb 20.
PMID 23437340
Genetic risk factors in two Utah pedigrees at high risk for suicide.
Coon H, Darlington T, Pimentel R, Smith KR, Huff CD, Hu H, Jerominski L, Hansen J, Klein M, Callor WB, Byrd J, Bakian A, Crowell SE, McMahon WM, Rajamanickam V, Camp NJ, McGlade E, Yurgelun-Todd D, Grey T, Gray D.
Transl Psychiatry. 2013 Nov 19;3:e325. doi: 10.1038/tp.2013.100.
PMID 24252905
PAX5-AUTS2 fusion resulting from t(7;9)(q11.2;p13.2) can now be classified as recurrent in B cell acute lymphoblastic leukemia.
Coyaud E, Struski S, Dastugue N, Brousset P, Broccardo C, Bradtke J.
Leuk Res. 2010 Dec;34(12):e323-5. doi: 10.1016/j.leukres.2010.07.035. Epub 2010 Aug 17. (REVIEW)
PMID 20723977
PAX5-AUTS2: a recurrent fusion gene in childhood B-cell precursor acute lymphoblastic leukemia.
Denk D, Nebral K, Bradtke J, Pass G, Moricke A, Attarbaschi A, Strehl S.
Leuk Res. 2012 Aug;36(8):e178-81. doi: 10.1016/j.leukres.2012.04.015. Epub 2012 May 12. (REVIEW)
PMID 22578776
Genetics and alcoholism.
Edenberg HJ, Foroud T.
Nat Rev Gastroenterol Hepatol. 2013 Aug;10(8):487-94. doi: 10.1038/nrgastro.2013.86. Epub 2013 May 28.
PMID 23712313
A de novo balanced translocation breakpoint truncating the autism susceptibility candidate 2 (AUTS2) gene in a patient with autism.
Huang XL, Zou YS, Maher TA, Newton S, Milunsky JM.
Am J Med Genet A. 2010 Aug;152A(8):2112-4. doi: 10.1002/ajmg.a.33497.
PMID 20635338
De novo intragenic deletion of the autism susceptibility candidate 2 (AUTS2) gene in a patient with developmental delay: a case report and literature review.
Jolley A, Corbett M, McGregor L, Waters W, Brown S, Nicholl J, Yu S.
Am J Med Genet A. 2013 Jun;161A(6):1508-12. doi: 10.1002/ajmg.a.35922. Epub 2013 May 6.
PMID 23650183
Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation.
Kalscheuer VM, FitzPatrick D, Tommerup N, Bugge M, Niebuhr E, Neumann LM, Tzschach A, Shoichet SA, Menzel C, Erdogan F, Arkesteijn G, Ropers HH, Ullmann R.
Hum Genet. 2007 May;121(3-4):501-9. Epub 2007 Jan 9.
PMID 17211639
A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.
Kapoor M, Wang JC, Wetherill L, Le N, Bertelsen S, Hinrichs AL, Budde J, Agrawal A, Bucholz K, Dick D, Harari O, Hesselbrock V, Kramer J, Nurnberger JI Jr, Rice J, Saccone N, Schuckit M, Tischfield J, Porjesz B, Edenberg HJ, Bierut L, Foroud T, Goate A.
Hum Genet. 2013 Oct;132(10):1141-51. doi: 10.1007/s00439-013-1318-z. Epub 2013 Jun 7.
PMID 23743675
Cloning of genes involved in chromosomal translocations by high-resolution single nucleotide polymorphism genomic microarray.
Kawamata N, Ogawa S, Zimmermann M, Niebuhr B, Stocking C, Sanada M, Hemminki K, Yamatomo G, Nannya Y, Koehler R, Flohr T, Miller CW, Harbott J, Ludwig WD, Stanulla M, Schrappe M, Bartram CR, Koeffler HP.
Proc Natl Acad Sci U S A. 2008 Aug 19;105(33):11921-6. doi: 10.1073/pnas.0711039105. Epub 2008 Aug 12.
PMID 18697940
Pax5: a master regulator of B cell development and leukemogenesis.
Medvedovic J, Ebert A, Tagoh H, Busslinger M.
Adv Immunol. 2011;111:179-206. doi: 10.1016/B978-0-12-385991-4.00005-2. (REVIEW)
PMID 21970955
Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies.
Mefford HC, Muhle H, Ostertag P, von Spiczak S, Buysse K, Baker C, Franke A, Malafosse A, Genton P, Thomas P, Gurnett CA, Schreiber S, Bassuk AG, Guipponi M, Stephani U, Helbig I, Eichler EE.
PLoS Genet. 2010 May 20;6(5):e1000962. doi: 10.1371/journal.pgen.1000962.
PMID 20502679
Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders.
Nagamani SC, Erez A, Ben-Zeev B, Frydman M, Winter S, Zeller R, El-Khechen D, Escobar L, Stankiewicz P, Patel A, Cheung SW.
Eur J Hum Genet. 2013 Mar;21(3):343-6. doi: 10.1038/ejhg.2012.157. Epub 2012 Aug 8.
PMID 22872102
Function and regulation of AUTS2, a gene implicated in autism and human evolution.
Oksenberg N, Stevison L, Wall JD, Ahituv N.
PLoS Genet. 2013;9(1):e1003221. doi: 10.1371/journal.pgen.1003221. Epub 2013 Jan 17.
PMID 23349641
Genome-wide association and genetic functional studies identify autism susceptibility candidate 2 gene (AUTS2) in the regulation of alcohol consumption.
Schumann G, Coin LJ, Lourdusamy A, Charoen P, Berger KH, Stacey D, Desrivieres S, Aliev FA, Khan AA, Amin N, Aulchenko YS, Bakalkin G, Bakker SJ, Balkau B, Beulens JW, Bilbao A, de Boer RA, Beury D, Bots ML, Breetvelt EJ, Cauchi S, Cavalcanti-Proenca C, Chambers JC, Clarke TK, Dahmen N, de Geus EJ, Dick D, Ducci F, Easton A, Edenberg HJ, Esko T, Fernandez-Medarde A, Foroud T, Freimer NB, Girault JA, Grobbee DE, Guarrera S, Gudbjartsson DF, Hartikainen AL, Heath AC, Hesselbrock V, Hofman A, Hottenga JJ, Isohanni MK, Kaprio J, Khaw KT, Kuehnel B, Laitinen J, Lobbens S, Luan J, Mangino M, Maroteaux M, Matullo G, McCarthy MI, Mueller C, Navis G, Numans ME, Nunez A, Nyholt DR, Onland-Moret CN, Oostra BA, O'Reilly PF, Palkovits M, Penninx BW, Polidoro S, Pouta A, Prokopenko I, Ricceri F, Santos E, Smit JH, Soranzo N, Song K, Sovio U, Stumvoll M, Surakk I, Thorgeirsson TE, Thorsteinsdottir U, Troakes C, Tyrfingsson T, Tonjes A, Uiterwaal CS, Uitterlinden AG, van der Harst P, van der Schouw YT, Staehlin O, Vogelzangs N, Vollenweider P, Waeber G, Wareham NJ, Waterworth DM, Whitfield JB, Wichmann EH, Willemsen G, Witteman JC, Yuan X, Zhai G, Zhao JH, Zhang W, Martin NG, Metspalu A, Doering A, Scott J, Spector TD, Loos RJ, Boomsma DI, Mooser V, Peltonen L, Stefansson K, van Duijn CM, Vineis P, Sommer WH, Kooner JS, Spanagel R, Heberlein UA, Jarvelin MR, Elliott P.
Proc Natl Acad Sci U S A. 2011 Apr 26;108(17):7119-24. doi: 10.1073/pnas.1017288108. Epub 2011 Apr 6.
PMID 21471458
Genomic analysis of wig-1 pathways.
Sedaghat Y, Mazur C, Sabripour M, Hung G, Monia BP.
PLoS One. 2012;7(2):e29429. doi: 10.1371/journal.pone.0029429. Epub 2012 Feb 7.
PMID 22347364
A network of genetic repression and derepression specifies projection fates in the developing neocortex.
Srinivasan K, Leone DP, Bateson RK, Dobreva G, Kohwi Y, Kohwi-Shigematsu T, Grosschedl R, McConnell SK.
Proc Natl Acad Sci U S A. 2012 Nov 20;109(47):19071-8. doi: 10.1073/pnas.1216793109. Epub 2012 Nov 9.
PMID 23144223
Rare de novo germline copy-number variation in testicular cancer.
Stadler ZK, Esposito D, Shah S, Vijai J, Yamrom B, Levy D, Lee YH, Kendall J, Leotta A, Ronemus M, Hansen N, Sarrel K, Rau-Murthy R, Schrader K, Kauff N, Klein RJ, Lipkin SM, Murali R, Robson M, Sheinfeld J, Feldman D, Bosl G, Norton L, Wigler M, Offit K.
Am J Hum Genet. 2012 Aug 10;91(2):379-83. doi: 10.1016/j.ajhg.2012.06.019. Epub 2012 Aug 2.
PMID 22863192
Identification of a novel gene on chromosome 7q11.2 interrupted by a translocation breakpoint in a pair of autistic twins.
Sultana R, Yu CE, Yu J, Munson J, Chen D, Hua W, Estes A, Cortes F, de la Barra F, Yu D, Haider ST, Trask BJ, Green ED, Raskind WH, Disteche CM, Wijsman E, Dawson G, Storm DR, Schellenberg GD, Villacres EC.
Genomics. 2002 Aug;80(2):129-34.
PMID 12160723
Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.
Talkowski ME, Rosenfeld JA, Blumenthal I, Pillalamarri V, Chiang C, Heilbut A, Ernst C, Hanscom C, Rossin E, Lindgren AM, Pereira S, Ruderfer D, Kirby A, Ripke S, Harris DJ, Lee JH, Ha K, Kim HG, Solomon BD, Gropman AL, Lucente D, Sims K, Ohsumi TK, Borowsky ML, Loranger S, Quade B, Lage K, Miles J, Wu BL, Shen Y, Neale B, Shaffer LG, Daly MJ, Morton CC, Gusella JF.
Cell. 2012 Apr 27;149(3):525-37. doi: 10.1016/j.cell.2012.03.028. Epub 2012 Apr 19.
PMID 22521361
Characterizing the cancer genome in lung adenocarcinoma.
Weir BA, Woo MS, Getz G, Perner S, Ding L, Beroukhim R, Lin WM, Province MA, Kraja A, Johnson LA, Shah K, Sato M, Thomas RK, Barletta JA, Borecki IB, Broderick S, Chang AC, Chiang DY, Chirieac LR, Cho J, Fujii Y, Gazdar AF, Giordano T, Greulich H, Hanna M, Johnson BE, Kris MG, Lash A, Lin L, Lindeman N, Mardis ER, McPherson JD, Minna JD, Morgan MB, Nadel M, Orringer MB, Osborne JR, Ozenberger B, Ramos AH, Robinson J, Roth JA, Rusch V, Sasaki H, Shepherd F, Sougnez C, Spitz MR, Tsao MS, Twomey D, Verhaak RG, Weinstock GM, Wheeler DA, Winckler W, Yoshizawa A, Yu S, Zakowski MF, Zhang Q, Beer DG, Wistuba II, Watson MA, Garraway LA, Ladanyi M, Travis WD, Pao W, Rubin MA, Gabriel SB, Gibbs RA, Varmus HE, Wilson RK, Lander ES, Meyerson M.
Nature. 2007 Dec 6;450(7171):893-8. Epub 2007 Nov 4.
PMID 17982442


This paper should be referenced as such :
Huret, JL
AUTS2 (autism susceptibility candidate 2)
Atlas Genet Cytogenet Oncol Haematol. 2014;18(5):306-310.
Free journal version : [ pdf ]   [ DOI ]

Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(7;9)(q11.2;p13.2) PAX5::AUTS2

External links


HGNC (Hugo)AUTS2   14262
Atlas Explorer : (Salamanque)AUTS2
Entrez_Gene (NCBI)AUTS2    activator of transcription and developmental regulator AUTS2
AliasesFBRSL2; MRD26
GeneCards (Weizmann)AUTS2
Ensembl hg19 (Hinxton)ENSG00000158321 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000158321 [Gene_View]  ENSG00000158321 [Sequence]  chr7:69598475-70793506 [Contig_View]  AUTS2 [Vega]
ICGC DataPortalENSG00000158321
TCGA cBioPortalAUTS2
Genatlas (Paris)AUTS2
SOURCE (Princeton)AUTS2
Genetics Home Reference (NIH)AUTS2
Genomic and cartography
GoldenPath hg38 (UCSC)AUTS2  -     chr7:69598475-70793506 +  7q11.22   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)AUTS2  -     7q11.22   [Description]    (hg19-Feb_2009)
GoldenPathAUTS2 - 7q11.22 [CytoView hg19]  AUTS2 - 7q11.22 [CytoView hg38]
Genome Data Viewer NCBIAUTS2 [Mapview hg19]  
OMIM607270   615834   
Gene and transcription
Genbank (Entrez)AB007902 AF326917 AK025298 AK055586 AK296981
RefSeq transcript (Entrez)NM_001127231 NM_001127232 NM_015570
Consensus coding sequences : CCDS (NCBI)AUTS2
Gene ExpressionAUTS2 [ NCBI-GEO ]   AUTS2 [ EBI - ARRAY_EXPRESS ]   AUTS2 [ SEEK ]   AUTS2 [ MEM ]
Gene Expression Viewer (FireBrowse)AUTS2 [ Firebrowse - Broad ]
GenevisibleExpression of AUTS2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)26053
GTEX Portal (Tissue expression)AUTS2
Human Protein AtlasENSG00000158321-AUTS2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8WXX7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8WXX7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8WXX7
Domains : Interpro (EBI)AUTS2   
Domain families : Pfam (Sanger)Auts2 (PF15336)   
Domain families : Pfam (NCBI)pfam15336   
Conserved Domain (NCBI)AUTS2
AlphaFold pdb e-kbQ8WXX7   
Human Protein Atlas [tissue]ENSG00000158321-AUTS2 [tissue]
Protein Interaction databases
IntAct (EBI)Q8WXX7
Ontologies - Pathways
Ontology : AmiGOneuron migration  chromatin binding  protein binding  cellular_component  nucleus  cytoplasm  positive regulation of lamellipodium assembly  actin cytoskeleton  growth cone  actin cytoskeleton reorganization  positive regulation of Rac protein signal transduction  positive regulation of transcription by RNA polymerase II  axon extension  positive regulation of histone H3-K4 methylation  dendrite extension  positive regulation of histone H4-K16 acetylation  
Ontology : EGO-EBIneuron migration  chromatin binding  protein binding  cellular_component  nucleus  cytoplasm  positive regulation of lamellipodium assembly  actin cytoskeleton  growth cone  actin cytoskeleton reorganization  positive regulation of Rac protein signal transduction  positive regulation of transcription by RNA polymerase II  axon extension  positive regulation of histone H3-K4 methylation  dendrite extension  positive regulation of histone H4-K16 acetylation  
REACTOMEQ8WXX7 [protein]
REACTOME PathwaysR-HSA-8939243 [pathway]   
NDEx NetworkAUTS2
Atlas of Cancer Signalling NetworkAUTS2
Wikipedia pathwaysAUTS2
Orthology - Evolution
GeneTree (enSembl)ENSG00000158321
Phylogenetic Trees/Animal Genes : TreeFamAUTS2
Homologs : HomoloGeneAUTS2
Homology/Alignments : Family Browser (UCSC)AUTS2
Gene fusions - Rearrangements
Fusion : MitelmanAUTS2::PNLIPRP3 [7q11.22/10q25.3]  
Fusion : MitelmanAUTS2::TBC1D30 [7q11.22/12q14.3]  
Fusion : MitelmanEZH2::AUTS2 [7q36.1/7q11.22]  
Fusion : MitelmanKIAA1033::AUTS2 [12q23.3/7q11.22]  
Fusion : MitelmanPAX5::AUTS2 [9p13.2/7q11.22]  
Fusion : MitelmanSEMA3C::AUTS2 [7q21.11/7q11.22]  
Fusion : FusionHubAPOA2--AUTS2    AUTS2--ACTR1A    AUTS2--ADK    AUTS2--ANKIB1    AUTS2--ANTXR1    AUTS2--BAZ1B    AUTS2--ENPP2    AUTS2--FMNL2    AUTS2--GLI3    AUTS2--GNA12   
AUTS2--TMPRSS2    AUTS2--TPPP3    AUTS2--TRAM1    AUTS2--TRIM3    AUTS2--TTC3    BMPER--AUTS2    CD74--AUTS2    CD81--AUTS2    CHMP5--AUTS2    EZH2--AUTS2   
FAM208B--AUTS2    GALNT2--AUTS2    HNRNPA2B1--AUTS2    IGH@--AUTS2    KIAA1033--AUTS2    MLL3--AUTS2    OAF--AUTS2    PAX5--AUTS2    PGP--AUTS2    PTBP2--AUTS2   
RBM24--AUTS2    SEMA3C--AUTS2    SLX4--AUTS2    SNX13--AUTS2    SOD2--AUTS2    SRGAP1--AUTS2    TIMP2--AUTS2    TTC3--AUTS2    UBE2H--AUTS2    UBE3A--AUTS2   
WBSCR17--AUTS2    ZNF592--AUTS2   
Fusion : QuiverAUTS2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAUTS2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AUTS2
Exome Variant ServerAUTS2
GNOMAD BrowserENSG00000158321
Varsome BrowserAUTS2
ACMGAUTS2 variants
Genomic Variants (DGV)AUTS2 [DGVbeta]
DECIPHERAUTS2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisAUTS2 
ICGC Data PortalAUTS2 
TCGA Data PortalAUTS2 
Broad Tumor PortalAUTS2
OASIS PortalAUTS2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAUTS2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DAUTS2
Mutations and Diseases : HGMDAUTS2
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
DgiDB (Drug Gene Interaction Database)AUTS2
DoCM (Curated mutations)AUTS2
CIViC (Clinical Interpretations of Variants in Cancer)AUTS2
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
OMIM607270    615834   
Orphanet312    22069    29205   
Genetic Testing Registry AUTS2
NextProtQ8WXX7 [Medical]
Target ValidationAUTS2
Huge Navigator AUTS2 [HugePedia]
ClinGenAUTS2 (curated)
Clinical trials, drugs, therapy
Protein Interactions : CTDAUTS2
Pharm GKB GenePA134863175
Clinical trialAUTS2
DataMed IndexAUTS2
PubMed69 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Jan 20 14:02:24 CET 2022

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us