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Aliases for AUTS2 Gene

Aliases for AUTS2 Gene

  • Autism Susceptibility Candidate 2 2 3 5
  • Autism-Related Protein 1 3
  • KIAA0442 4
  • FBRSL2 3
  • MRD26 3

External Ids for AUTS2 Gene

Previous GeneCards Identifiers for AUTS2 Gene

  • GC07P068803
  • GC07P068462
  • GC07P068476
  • GC07P068508
  • GC07P068702
  • GC07P069063
  • GC07P065242

Summaries for AUTS2 Gene

Entrez Gene Summary for AUTS2 Gene

  • 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. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2014]

GeneCards Summary for AUTS2 Gene

AUTS2 (Autism Susceptibility Candidate 2) is a Protein Coding gene. Diseases associated with AUTS2 include Mental Retardation, Autosomal Dominant 26 and Autism Spectrum Disorder Due To Auts2 Deficiency. An important paralog of this gene is FBRS.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AUTS2 Gene

Genomics for AUTS2 Gene

Regulatory Elements for AUTS2 Gene

Enhancers for AUTS2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around AUTS2 on UCSC Golden Path with GeneCards custom track

Promoters for AUTS2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around AUTS2 on UCSC Golden Path with GeneCards custom track

Genomic Location for AUTS2 Gene

69,598,475 bp from pter
70,793,068 bp from pter
1,194,594 bases
Plus strand

Genomic View for AUTS2 Gene

Genes around AUTS2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AUTS2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AUTS2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AUTS2 Gene

Proteins for AUTS2 Gene

  • Protein details for AUTS2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Autism susceptibility gene 2 protein
    Protein Accession:
    Secondary Accessions:
    • A4D1Y9
    • L7QET3
    • L7QF75
    • Q5D049
    • Q6PJU5
    • Q9Y4F2

    Protein attributes for AUTS2 Gene

    1259 amino acids
    Molecular mass:
    138982 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAA23714.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for AUTS2 Gene


neXtProt entry for AUTS2 Gene

Proteomics data for AUTS2 Gene at MOPED

Post-translational modifications for AUTS2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for AUTS2 Gene

Domains & Families for AUTS2 Gene

Protein Domains for AUTS2 Gene


Suggested Antigen Peptide Sequences for AUTS2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the AUTS2 family.
  • Belongs to the AUTS2 family.
genes like me logo Genes that share domains with AUTS2: view

No data available for Gene Families for AUTS2 Gene

Function for AUTS2 Gene

genes like me logo Genes that share phenotypes with AUTS2: view

Human Phenotype Ontology for AUTS2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for AUTS2 Gene

miRTarBase miRNAs that target AUTS2

Inhibitory RNA Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for AUTS2 Gene

Localization for AUTS2 Gene

Subcellular locations from

Jensen Localization Image for AUTS2 Gene COMPARTMENTS Subcellular localization image for AUTS2 gene
Compartment Confidence
nucleus 5
cytosol 3

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for AUTS2 Gene

Pathways & Interactions for AUTS2 Gene

SuperPathways for AUTS2 Gene

No Data Available

Interacting Proteins for AUTS2 Gene

Gene Ontology (GO) - Biological Process for AUTS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
GO:0051571 positive regulation of histone H3-K4 methylation IDA 25519132
GO:0098582 innate vocalization behavior IEA --
genes like me logo Genes that share ontologies with AUTS2: view

No data available for Pathways by source and SIGNOR curated interactions for AUTS2 Gene

Drugs & Compounds for AUTS2 Gene

No Compound Related Data Available

Transcripts for AUTS2 Gene

Unigene Clusters for AUTS2 Gene

Autism susceptibility candidate 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for AUTS2 Gene

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

Relevant External Links for AUTS2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for AUTS2 Gene

mRNA expression in normal human tissues for AUTS2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for AUTS2 Gene

This gene is overexpressed in Bone (26.5), Lung (24.9), and Plasma (12.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for AUTS2 Gene

SOURCE GeneReport for Unigene cluster for AUTS2 Gene Hs.21631

mRNA Expression by UniProt/SwissProt for AUTS2 Gene

Tissue specificity: Strongly expressed in brain, skeletal muscle and kidney. Also expressed in placenta, lung and leukocytes.
genes like me logo Genes that share expression patterns with AUTS2: view

Primer Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for AUTS2 Gene

Orthologs for AUTS2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for AUTS2 Gene

Organism Taxonomy Gene Similarity Type Details
(Canis familiaris)
Mammalia AUTS2 35
  • 92.97 (n)
  • 95.78 (a)
AUTS2 36
  • 95 (a)
(Mus musculus)
Mammalia Auts2 35
  • 87.01 (n)
  • 93 (a)
Auts2 16
Auts2 36
  • 93 (a)
(Pan troglodytes)
Mammalia AUTS2 35
  • 99.63 (n)
  • 99.76 (a)
AUTS2 36
  • 100 (a)
(Rattus norvegicus)
Mammalia LOC100362819 35
  • 87.18 (n)
  • 93.08 (a)
(Bos Taurus)
Mammalia AUTS2 36
  • 90 (a)
(Monodelphis domestica)
Mammalia AUTS2 36
  • 89 (a)
(Ornithorhynchus anatinus)
Mammalia AUTS2 36
  • 65 (a)
(Gallus gallus)
Aves AUTS2 35
  • 79.19 (n)
  • 85.74 (a)
AUTS2 36
  • 85 (a)
(Anolis carolinensis)
Reptilia AUTS2 36
  • 83 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia auts2 35
  • 69.22 (n)
  • 76.43 (a)
Str.16422 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.20523 35
(Danio rerio)
Actinopterygii auts2 35
  • 66.61 (n)
  • 66.2 (a)
auts2 36
  • 63 (a)
Species with no ortholog for AUTS2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for AUTS2 Gene

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

Paralogs for AUTS2 Gene

Paralogs for AUTS2 Gene

genes like me logo Genes that share paralogs with AUTS2: view

Variants for AUTS2 Gene

Sequence variations from dbSNP and Humsavar for AUTS2 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs2293507 - 70,763,034(+) AGGTC(A/G/T)CACAG upstream-variant-2KB, reference, missense
rs867151 -- 70,466,776(-) TCTTT(A/G/T)CAAGA intron-variant
rs870199 -- 70,216,406(+) ATTTA(A/G)CATTC intron-variant
rs870200 -- 70,216,424(+) ACTTA(A/G)CAGAT intron-variant
rs870919 -- 70,217,034(-) AAGAC(A/G)TCCCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for AUTS2 Gene

Variant ID Type Subtype PubMed ID
nsv428169 CNV Gain 18775914
nsv5783 CNV Loss 18451855
nsv831021 CNV Loss 17160897
esv2672798 CNV Deletion 23128226
nsv5784 CNV Insertion 18451855
dgv2093e1 CNV Complex 17122850
esv1786451 CNV Insertion 17803354
esv1237822 CNV Insertion 17803354
esv2672247 CNV Deletion 23128226
esv2014387 CNV Deletion 18987734
esv2734632 CNV Deletion 23290073
esv2734633 CNV Deletion 23290073
nsv888337 CNV Loss 21882294
nsv510088 CNV Loss 20534489
dgv7320n71 CNV Loss 21882294
nsv528973 CNV Loss 19592680
esv2734634 CNV Deletion 23290073
esv2668064 CNV Deletion 23128226
esv2734635 CNV Deletion 23290073
esv2734636 CNV Deletion 23290073
esv2734637 CNV Deletion 23290073
esv1333857 CNV Deletion 17803354
esv2659012 CNV Deletion 23128226
esv267655 CNV Insertion 20981092
esv2664680 CNV Deletion 23128226
nsv522876 CNV Loss 19592680
nsv464546 CNV Loss 19166990
nsv519090 CNV Gain 19592680
esv2670456 CNV Deletion 23128226
esv2734638 CNV Deletion 23290073
esv1007231 CNV Deletion 20482838
esv2555170 CNV Insertion 19546169
esv1769312 CNV Insertion 17803354
nsv831022 CNV Loss 17160897
nsv820114 CNV Gain 19587683
nsv821229 CNV Deletion 20802225
esv27068 CNV Gain 19812545
esv2678753 CNV Deletion 23128226
nsv442052 CNV CNV 18776908
esv2734640 CNV Deletion 23290073
nsv888341 CNV Loss 21882294

Variation tolerance for AUTS2 Gene

Residual Variation Intolerance Score: 2.09% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.80; 58.31% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AUTS2 Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AUTS2 Gene

Disorders for AUTS2 Gene

MalaCards: The human disease database

(9) MalaCards diseases for AUTS2 Gene - From: OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search AUTS2 in MalaCards View complete list of genes associated with diseases


  • Mental retardation, autosomal dominant 26 (MRD26) [MIM:615834]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Additional MRD26 features include autism, short stature, microcephaly, cerebral palsy, and facial dysmorphisms. {ECO:0000269 PubMed:23332918}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for AUTS2

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with AUTS2: view

No data available for Genatlas for AUTS2 Gene

Publications for AUTS2 Gene

  1. Identification of a novel gene on chromosome 7q11.2 interrupted by a translocation breakpoint in a pair of autistic twins. (PMID: 12160723) Sultana R. … Villacres E.C. (Genomics 2002) 2 3 4 67
  2. An AUTS2-Polycomb complex activates gene expression in the CNS. (PMID: 25519132) Gao Z. … Reinberg D. (Nature 2014) 2 3
  3. Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome. (PMID: 25205402) Beunders G. … Sistermans E.A. (Eur. J. Hum. Genet. 2015) 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. De novo single exon deletion of AUTS2 in a patient with speech and language disorder: a review of disrupted AUTS2 and further evidence for its role in neurodevelopmental disorders. (PMID: 24459036) Amarillo I.E. … Kantarci S. (Am. J. Med. Genet. A 2014) 3

Products for AUTS2 Gene

Sources for AUTS2 Gene