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FLASH GENE
Symbol AUTS2 contributors: mct/ - updated : 27-10-2011
HGNC name autism susceptibility candidate 2
HGNC id 14262
DNA
TYPE functioning gene
STRUCTURE 1193.80 kb     19 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Physical map
AUTS2 WBSCR17 7q11.23 Williams-Beuren syndrome chromosome region 17 CALN1 7q11 calneuron 1 LOC389514 7 hypothetical gene supported by BC042156; BC051888; NM_018264 LOC389515 7 similar to Shwachman-Bodian-Diamond syndrome protein (CGI-97) POM121 7q11.23 POM121 membrane glycoprotein (rat) WBSCR20C 7q11.23 POM121 membrane glycoprotein (rat) TRIM50C 7 tripartite motif-containing 50C LOC389516 7 hypothetical gene supported by BC002581; NM_012447 LOC389517 7 similar to Williams Beuren syndrome chromosome region 19 GTF2IP1 7q11.23 general transcription factor II, i, pseudogene 1 LOC389518 7 similar to Neutrophil cytosolic factor 1 LOC389519 7 similar to transcription factor GTF2IRD2
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
18 - 5952 - 1235 - 2010 20635338
5 - 1678 - 266 - 2010 20635338
19 - 6426 - 1259 - 2010 20635338
9 - - - 697 in the human brain 2013 23332918
  • C-terminal isoform (with an alternative transcription start site)
  • short 3prime AUTS2 mRNA variant starting in the middle of exon 9
  • EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Hearing/Equilibriumearinnercochlea highly
    Nervousbrain     Homo sapiens
     nerve   highly
    Respiratoryrespiratory tractlarynx  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text brain
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • MAGUK (membrane associated guanylate kinase homolog) superfamily with a guanylate kinase domain
  • two WW (phosphoserine- or phosphothreonine binding) domains
  • five PDZ domains (PSD95/Discs large/ZO-1)
  • two proline rich domains
  • a PY motif
  • one PPY motif
  • HOMOLOGY
    interspecies homolog to rabbit atrophin 1
    intraspecies homolog to known fibrosin 1 protein (FBS1), which is a fibroblast growth factor
    Homologene
    FAMILY
  • MAGUK (membrane associated guanylate kinase homolog) superfamily
  • AUTS2 family
  • CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    basic FUNCTION
  • frontal cortex marker gene, direct target of TBR1 binding and activation
  • neuronal nuclear protein, involved in the regulation of alcohol intake
  • is important for neurodevelopment and expose candidate enhancer sequences in which nucleotide variation could lead to neurological disease and human-specific traits
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein atrophin 1 binding
    cell & other
    REGULATION
    activated by TBR1
    ASSOCIATED DISORDERS
    corresponding disease(s) AUTS2 , MRD26
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral fusion      
    PAX5-AUTS2 is a recurrent fusion gene (t(7;9)(q11.2;p13.2)) in pediatric B-cell precursor acute lymphoblastic leukemia
    Susceptibility
  • to autism (AUTS2)
  • to alcohol consumption
  • Variant & Polymorphism SNP
  • SNP rs6943555 in AUTS2 associated with alcohol consumption
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • suppression of auts2 in zebrafish embryos caused microcephaly that could be rescued by either the full-length or the C-terminal isoform of AUTS2