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AUTS2 Gene

protein-coding   GIFtS: 54
GCID: GC07P069063

Autism Susceptibility Candidate 2

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Autism Susceptibility Candidate 21 2
KIAA04423 5
FBRSL22
Autism Susceptibility Gene 2 Protein2
Autism Susceptibility Protein 2 Long Isoform2
Autism-Related Protein 12

External Ids:    HGNC: 142621   Entrez Gene: 260532   Ensembl: ENSG000001583217   OMIM: 6072705   UniProtKB: Q8WXX73   

Export aliases for AUTS2 gene to outside databases

Previous GC identifers: GC07P068803 GC07P068462 GC07P068476 GC07P068508 GC07P068702 GC07P065242


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for AUTS2 Gene:
AUTS2 (autism susceptibility candidate 2) is a protein-coding gene. Diseases associated with AUTS2 include autism spectrum disorder due to auts2 deficiency, and supravalvular aortic stenosis. An important paralog of this gene is FBRS.


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000007.14  NT_007933.16  NC_018918.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the AUTS2 gene promoter:
         E2F-4   E2F-3a   E2F-5   E2F-2   FOXL1   Gfi-1   E2F   E2F-1   HFH-1   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 8): AUTS2 promoter sequence
   Search Chromatin IP Primers for AUTS2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat AUTS2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q11.22   Ensembl cytogenetic band:  7q11.22   HGNC cytogenetic band: 7q11.22

AUTS2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AUTS2 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P069063:  view genomic region     (about GC identifiers)

Start:
69,063,905 bp from pter      End:
70,258,054 bp from pter
Size:
1,194,150 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 68,403,004-69,597,617     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: AUTS2_HUMAN, Q8WXX7 (See protein sequence)
Recommended Name: Autism susceptibility gene 2 protein  
Size: 1259 amino acids; 138982 Da
Sequence caution: Sequence=BAA23714.2; Type=Erroneous initiation;
Secondary accessions: A4D1Y9 Q5D049 Q6PJU5 Q9Y4F2
Alternative splicing: 3 isoforms:  Q8WXX7-1   Q8WXX7-2   Q8WXX7-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for AUTS2: NX_Q8WXX7

Explore proteomics data for AUTS2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See AUTS2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001120703.1  NP_001120704.1  NP_056385.1  

    ENSEMBL proteins: 
     ENSP00000385263   ENSP00000344087   ENSP00000385572   ENSP00000394887   ENSP00000393548  
     ENSP00000407058   ENSP00000400227   ENSP00000392333  

    AUTS2 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for AUTS2
    OriGene Custom MassSpec
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    Novus Biologicals AUTS2 Protein
    Novus Biologicals AUTS2 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for AUTS2

    AUTS2 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Abcam antibodies for AUTS2
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    ThermoFisher Antibodies for AUTS2
    LSBio Antibodies in human, mouse, rat for AUTS2

    AUTS2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for AUTS2
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for AUTS2
    Cloud-Clone Corp. CLIAs for AUTS2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR023246 AUTS2

    Graphical View of Domain Structure for InterPro Entry Q8WXX7

    ProtoNet protein and cluster: Q8WXX7

    1 Blocks protein domain: IPB002223 Pancreatic trypsin inhibitor (Kunitz)

    UniProtKB/Swiss-Prot: AUTS2_HUMAN, Q8WXX7
    Similarity: Belongs to the AUTS2 family


    AUTS2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
         
    AUTS2 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for AUTS2:
     Increased HPV18 LCR reporter a  Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for AUTS2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for AUTS2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for AUTS2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for AUTS2

    miRNA
    Products:
        
    miRTarBase miRNAs that target AUTS2:
    hsa-mir-222-3p (MIRT046611), hsa-mir-21-5p (MIRT030951)

    Block miRNA regulation of human, mouse, rat AUTS2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate AUTS2 (see all 62):
    hsa-miR-323-3p hsa-miR-4317 hsa-miR-548j hsa-miR-429 hsa-miR-485-3p hsa-miR-3653 hsa-miR-507 hsa-miR-570
    SwitchGear 3'UTR luciferase reporter plasmidAUTS2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for AUTS2
    Predesigned siRNA for gene silencing in human, mouse, rat AUTS2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for AUTS2

    Clone
    Products:
         
    OriGene clones in human, mouse for AUTS2 (see all 17)
    OriGene ORF clones in mouse, rat for AUTS2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): AUTS2 (NM_001127231)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for AUTS2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AUTS2

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for AUTS2
    Browse ESI BIO Cell Lines and PureStem Progenitors for AUTS2 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AUTS2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    cytosol2

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--

    AUTS2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for AUTS2
    Interactions:

        Search GeneGlobe Interaction Network for AUTS2

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    3 Interacting proteins for AUTS2 (ENSP000003440874) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PCGF3ENSP000003547244STRING: ENSP00000354724
    PCGF5ENSP000003375004STRING: ENSP00000337500
    RNF2ENSP000003564804STRING: ENSP00000356480
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008150biological_process ND--

    AUTS2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for AUTS2



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for AUTS2 gene (3 alternative transcripts): 
    NM_001127231.1  NM_001127232.1  NM_015570.2  

    Unigene Cluster for AUTS2:

    Autism susceptibility candidate 2
    Hs.21631  [show with all ESTs]
    Unigene Representative Sequence: NM_015570
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000406775(uc003tvv.4 uc003tvx.4) ENST00000342771(uc003tvw.4 uc011keg.2)
    ENST00000403018 ENST00000476695 ENST00000475660 ENST00000489774 ENST00000416482
    ENST00000443672 ENST00000481994 ENST00000483297 ENST00000498384 ENST00000464768
    ENST00000439256 ENST00000465899 ENST00000449547 ENST00000418686
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat AUTS2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate AUTS2 (see all 62):
    hsa-miR-323-3p hsa-miR-4317 hsa-miR-548j hsa-miR-429 hsa-miR-485-3p hsa-miR-3653 hsa-miR-507 hsa-miR-570
    SwitchGear 3'UTR luciferase reporter plasmidAUTS2 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for AUTS2
    Predesigned siRNA for gene silencing in human, mouse, rat AUTS2
    Clone
    Products:
         
    OriGene clones in human, mouse for AUTS2 (see all 17)
    OriGene ORF clones in mouse, rat for AUTS2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): AUTS2 (NM_001127231)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for AUTS2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AUTS2
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for AUTS2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat AUTS2
      QuantiTect SYBR Green Assays in human, mouse, rat AUTS2
      QuantiFast Probe-based Assays in human, mouse, rat AUTS2

    Additional mRNA sequence: 

    AB007902.2 AF326917.1 AK025298.1 AK055586.1 AK296981.1 AY211931.1 BC011643.2 BC064693.1 
    JQ670866.1 JQ670867.1 

    20 DOTS entries:

    DT.91750486  DT.100755487  DT.40258215  DT.91945158  DT.216301  DT.216300  DT.121062015  DT.100024115 
    DT.97817142  DT.100685411  DT.100726062  DT.102839696  DT.121062276  DT.121062414  DT.91708461  DT.91750482 
    DT.99960109  DT.100681595  DT.91666033  DT.91750485 

    17 AceView cDNA sequences:

    BC011643 AI417756 BG208279 BX111036 BQ881762 CB988203 CF994684 BG192801 
    BG182858 CD703326 AA970658 BG191753 BF795115 BF309084 BG181831 CA436247 
    AI968360 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for AUTS2 (see all 6)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b · 11c
    SP1:                                                                    -     -                           
    SP2:                                                                    -           -                     
    SP3:                                                                                                      
    SP4:                          -                                                                           
    SP5:                                                                                                      


    ECgene alternative splicing isoforms for AUTS2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    AUTS2 expression in normal human tissues (normalized intensities)      AUTS2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTATTAAAAA
    AUTS2 Expression
    About this image


    AUTS2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 13) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Neural Crest (Gastrulation Derivatives)    fully expand to see all 2 entries
             PureStem 7SMOO32, NCr-fac & Meso Progenitor
     
     Thymus (Hematopoietic System)    fully expand to see all 2 entries
             T Helper Cells Thymus
     
     Lung (Respiratory System)    fully expand to see all 2 entries
             Stem Bronchi
    AUTS2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    AUTS2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.21631

    UniProtKB/Swiss-Prot: AUTS2_HUMAN, Q8WXX7
    Tissue specificity: Strongly expressed in brain, skeletal muscle and kidney. Also expressed in placenta, lung and
    leukocytes

        Custom PCR Arrays for AUTS2
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat AUTS2
    QuantiTect SYBR Green Assays in human, mouse, rat AUTS2
    QuantiFast Probe-based Assays in human, mouse, rat AUTS2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AUTS2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for AUTS2 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Auts21 , 5 autism susceptibility candidate 21, 5 87.01(n)1
    93(a)1
      5 (70.66 cM)5
    3199741  NM_177047.31  NP_796021.21 
     1314373335 
    chicken
    (Gallus gallus)
    Aves AUTS21 autism susceptibility candidate 2 79.19(n)
    85.74(a)
      417481  XM_415729.4  XP_415729.2 
    lizard
    (Anolis carolinensis)
    Reptilia AUTS26
    autism susceptibility candidate 2
    83(a)
    1 ↔ 1
    GL344408.1(2703-13080)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.205232 Xenopus laevis transcribed sequences 89.76(n)    BQ734386.1 
    zebrafish
    (Danio rerio)
    Actinopterygii auts21 autism susceptibility candidate 2 66.61(n)
    66.2(a)
      368890  XM_002663553.3  XP_002663599.2 


    ENSEMBL Gene Tree for AUTS2 (if available)
    TreeFam Gene Tree for AUTS2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for AUTS2 gene
    FBRS2  FBRSL12  

    AUTS2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for AUTS2 (see all 20276)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1131791151,2
    C--65243737(+) TGTTCGTGT/-  
            
    GTGTG
    3 -- int11Minor allele frequency- -:0.50CSA 2
    rs613287541,2
    C--65921895(+) ACATA-/CATAC 
     ATACATA
    TGTAC
    3 -- int11Minor allele frequency- CATACATACATA:0.00NA 2
    rs609736511,2
    C--68735124(+) CACAC-/AC/   
      ACACAC
    TACTT
    3 -- int12NA 4
    rs1393187111,2
    C--69064959(+) GGGGA-/CCCCCC 3 -- int10--------
    rs2003657771,2
    C--69064969(+) CTTCCC/ACCGGG 3 -- int11Minor allele frequency- A:0.00EU 957
    rs1871969491,2
    --69065237(+) GTTCGA/GGCATC 3 -- int10--------
    rs1431431281,2
    --69065249(+) CAACAA/GTGCGC 3 -- int10--------
    rs1908141381,2
    --69065254(+) ATGCGC/TCCCCT 3 -- int10--------
    rs1474767311,2
    C--69065261(+) CCCTCC/TCCACA 3 -- int10--------
    rs1830098391,2
    --69065283(+) CCCCAA/CTCCTT 3 -- int10--------

    HapMap Linkage Disequilibrium report for AUTS2 (69063905 - 69313905 bp, first 250kb of AUTS2)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for AUTS2 (see all 41):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2672247CNV Deletion23128226
    esv2678753CNV Deletion23128226
    esv2664680CNV Deletion23128226
    esv2734637CNV Deletion23290073
    esv2668064CNV Deletion23128226
    esv2734638CNV Deletion23290073
    esv2659012CNV Deletion23128226
    esv2734634CNV Deletion23290073
    esv2734640CNV Deletion23290073
    esv2672798CNV Deletion23128226

    Human Gene Mutation Database (HGMD): AUTS2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing AUTS2
    DNA2.0 Custom Variant and Variant Library Synthesis for AUTS2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 607270    OMIM disorders: --

    19 diseases for AUTS2:    About MalaCards
    autism spectrum disorder due to auts2 deficiency    supravalvular aortic stenosis    precursor b-cell acute lymphoblastic leukemia    heroin dependence
    autistic disorder    schizoaffective disorder    smallpox    alopecia
    attention deficit hyperactivity disorder    intellectual disability    labyrinthitis    lymphoblastic leukemia
    bipolar disorder    sarcoma    obesity    leukemia
    pancreatitis    cerebritis    neuronitis

    1 disease from the University of Copenhagen DISEASES database for AUTS2:
    Autistic disorder

    AUTS2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): AUTS2
    Human Genome Epidemiology (HuGE) Navigator: AUTS2 (10 documents)

    Export disorders for AUTS2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

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    PubMed articles for AUTS2 gene, integrated from 10 sources (see all 40):
    (articles sorted by number of sources associating them with AUTS2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of a novel gene on chromosome 7q11.2 interrupted by a translocation breakpoint in a pair of autistic twins. (PubMed id 12160723)1, 2, 3 Sultana R.... Villacres E.C. (Genomics 2002)
    2. Genome-wide association and genetic functional studies identify autism susceptibility candidate 2 gene (AUTS2) in the regulation of alcohol consumption. (PubMed id 21471458)1, 4 Schumann G....Elliott P. (Proc. Natl. Acad. Sci. U.S.A. 2011)
    3. Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes. (PubMed id 19546859)1, 4 Elia J....White P.S. (Mol. Psychiatry 2010)
    4. Comprehensive copy number variant (CNV) analysis of neuronal pathways genes in psychiatric disorders identifies rare variants within patients. (PubMed id 20398908)1, 4 Saus E....Estivill X. (J Psychiatr Res 2010)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    6. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    7. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PubMed id 19240061)1, 4 Trynka G....Wijmenga C. (Gut 2009)
    8. 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. (PubMed id 19086053)1, 4 GratacA^s M....Carracedo A. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2009)
    9. Genetic utility of broadly defined bipolar schizoaffective disorder as a diagnostic concept. (PubMed id 19567891)1, 4 Hamshere M.L....Craddock N. (Br J Psychiatry 2009)
    10. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (Science 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 26053 HGNC: 14262 AceView: AUTS2 Ensembl:ENSG00000158321 euGenes: HUgn26053
    ECgene: AUTS2 H-InvDB: AUTS2

    (According to HUGE)
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    HUGE: KIAA0442

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for AUTS2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for AUTS2 gene:
    Search GeneIP for patents involving AUTS2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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