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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)

Identity

Alias_symbol (synonym)KIAA0442
FBRSL2
Other alias
HGNC (Hugo) AUTS2
LocusID (NCBI) 26053
Atlas_Id 51794
Location 7q11.22  [Link to chromosome band 7q11]
Location_base_pair Starts at 69063905 and ends at 70258054 bp from pter ( according to hg19-Feb_2009)  [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 2016)
AUTS2 (7q11.22) / ANTXR1 (2p13.3)AUTS2 (7q11.22) / ENPP2 (8q24.12)AUTS2 (7q11.22) / LHFP (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)
KIAA1033 (12q23.3) / 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)ZNF592 (15q25.3) / AUTS2 (7q11.22)

DNA/RNA

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

Protein

 
  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
  
Entity t(7;9)(q11;p13) PAX5/AUTS2
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).
  

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Citation

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 ]
On line version : http://AtlasGeneticsOncology.org/Genes/AUTS2ID51794ch7q11.html


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


External links

Nomenclature
HGNC (Hugo)AUTS2   14262
Cards
AtlasAUTS2ID51794ch7q11
Entrez_Gene (NCBI)AUTS2  26053  autism susceptibility candidate 2
AliasesFBRSL2; MRD26
GeneCards (Weizmann)AUTS2
Ensembl hg19 (Hinxton)ENSG00000158321 [Gene_View]  chr7:69063905-70258054 [Contig_View]  AUTS2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000158321 [Gene_View]  chr7:69063905-70258054 [Contig_View]  AUTS2 [Vega]
ICGC DataPortalENSG00000158321
TCGA cBioPortalAUTS2
AceView (NCBI)AUTS2
Genatlas (Paris)AUTS2
WikiGenes26053
SOURCE (Princeton)AUTS2
Genetics Home Reference (NIH)AUTS2
Genomic and cartography
GoldenPath hg19 (UCSC)AUTS2  -     chr7:69063905-70258054 +  7q11.22   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)AUTS2  -     7q11.22   [Description]    (hg38-Dec_2013)
EnsemblAUTS2 - 7q11.22 [CytoView hg19]  AUTS2 - 7q11.22 [CytoView hg38]
Mapping of homologs : NCBIAUTS2 [Mapview hg19]  AUTS2 [Mapview hg38]
OMIM607270   615834   
Gene and transcription
Genbank (Entrez)AB007902 AF326917 AK025298 AK055586 AK296981
RefSeq transcript (Entrez)NM_001127231 NM_001127232 NM_015570
RefSeq genomic (Entrez)NC_000007 NC_018918 NG_034133 NT_007933 NW_004929332
Consensus coding sequences : CCDS (NCBI)AUTS2
Cluster EST : UnigeneHs.712991 [ NCBI ]
CGAP (NCI)Hs.712991
Alternative Splicing GalleryENSG00000158321
Gene ExpressionAUTS2 [ NCBI-GEO ]   AUTS2 [ EBI - ARRAY_EXPRESS ]   AUTS2 [ SEEK ]   AUTS2 [ MEM ]
Gene Expression Viewer (FireBrowse)AUTS2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)26053
GTEX Portal (Tissue expression)AUTS2
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
Splice isoforms : SwissVarQ8WXX7
PhosPhoSitePlusQ8WXX7
Domains : Interpro (EBI)AUTS2   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)AUTS2
DMDM Disease mutations26053
Blocks (Seattle)AUTS2
SuperfamilyQ8WXX7
Human Protein AtlasENSG00000158321
Peptide AtlasQ8WXX7
HPRD06276
IPIIPI00103655   IPI00218684   IPI00981795   IPI00895921   IPI00926513   IPI00926795   IPI00927004   IPI00925860   IPI00926049   
Protein Interaction databases
DIP (DOE-UCLA)Q8WXX7
IntAct (EBI)Q8WXX7
FunCoupENSG00000158321
BioGRIDAUTS2
STRING (EMBL)AUTS2
ZODIACAUTS2
Ontologies - Pathways
QuickGOQ8WXX7
Ontology : AmiGOmolecular_function  chromatin binding  cellular_component  nucleus  biological_process  positive regulation of transcription from RNA polymerase II promoter  positive regulation of histone H3-K4 methylation  righting reflex  innate vocalization behavior  positive regulation of histone H4-K16 acetylation  
Ontology : EGO-EBImolecular_function  chromatin binding  cellular_component  nucleus  biological_process  positive regulation of transcription from RNA polymerase II promoter  positive regulation of histone H3-K4 methylation  righting reflex  innate vocalization behavior  positive regulation of histone H4-K16 acetylation  
NDEx NetworkAUTS2
Atlas of Cancer Signalling NetworkAUTS2
Wikipedia pathwaysAUTS2
Orthology - Evolution
OrthoDB26053
GeneTree (enSembl)ENSG00000158321
Phylogenetic Trees/Animal Genes : TreeFamAUTS2
HOVERGENQ8WXX7
HOGENOMQ8WXX7
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]  [t(7;12)(q11;q14)]  
Fusion : MitelmanEZH2/AUTS2 [7q36.1/7q11.22]  [t(7;7)(q11;q36)]  
Fusion : MitelmanKIAA1033/AUTS2 [12q23.3/7q11.22]  [t(7;12)(q11;q23)]  
Fusion : MitelmanPAX5/AUTS2 [9p13.2/7q11.22]  [t(7;9)(q11;p13)]  
Fusion : MitelmanSEMA3C/AUTS2 [7q21.11/7q11.22]  [t(7;7)(q11;q21)]  
Fusion: TCGAAUTS2 7q11.22 PNLIPRP3 10q25.3 OV
Fusion: TCGAAUTS2 7q11.22 TBC1D30 12q14.3 LGG
Fusion: TCGAEZH2 7q36.1 AUTS2 7q11.22 LUSC
Fusion: TCGAKIAA1033 12q23.3 AUTS2 7q11.22 BRCA
Fusion: TCGASEMA3C 7q21.11 AUTS2 7q11.22 BRCA
Fusion : TICdbPAX5 [9p13.2]  -  AUTS2 [7q11.22]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAUTS2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AUTS2
dbVarAUTS2
ClinVarAUTS2
1000_GenomesAUTS2 
Exome Variant ServerAUTS2
ExAC (Exome Aggregation Consortium)AUTS2 (select the gene name)
Genetic variants : HAPMAP26053
Genomic Variants (DGV)AUTS2 [DGVbeta]
DECIPHER (Syndromes)7:69063905-70258054  ENSG00000158321
CONAN: Copy Number AnalysisAUTS2 
Mutations
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]  
Mutations and Diseases : HGMDAUTS2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch AUTS2
DgiDB (Drug Gene Interaction Database)AUTS2
DoCM (Curated mutations)AUTS2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)AUTS2 (select a term)
intoGenAUTS2
NCG5 (London)AUTS2
Cancer3DAUTS2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607270    615834   
Orphanet22069    14433   
MedgenAUTS2
Genetic Testing Registry AUTS2
NextProtQ8WXX7 [Medical]
TSGene26053
GENETestsAUTS2
Huge Navigator AUTS2 [HugePedia]
snp3D : Map Gene to Disease26053
BioCentury BCIQAUTS2
ClinGenAUTS2 (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD26053
Chemical/Pharm GKB GenePA134863175
Clinical trialAUTS2
Miscellaneous
canSAR (ICR)AUTS2 (select the gene name)
Probes
Litterature
PubMed42 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAUTS2
EVEXAUTS2
GoPubMedAUTS2
iHOPAUTS2
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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