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Aliases for AUTS2 Gene

Aliases for AUTS2 Gene

  • AUTS2, Activator Of Transcription And Developmental Regulator 2 3 5
  • Autism Susceptibility Candidate 2 2 3
  • Autism Susceptibility Gene 2 Protein 3
  • 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 (AUTS2, Activator Of Transcription And Developmental Regulator) is a Protein Coding gene. Diseases associated with AUTS2 include Mental Retardation, Autosomal Dominant 26 and Leukemia, Acute Lymphoblastic 3. An important paralog of this gene is FBRSL1.

Additional gene information for AUTS2 Gene

No data available for CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07H069737 1.2 Ensembl ENCODE 11.2 +140.8 140821 2.6 PKNOX1 FEZF1 ZNF2 ZNF207 FOS ATF7 RUNX3 JUNB GLIS1 NBN LOC100507468 AUTS2 GC07P069668 GC07M069307
GH07H069654 1.1 Ensembl ENCODE 12 +56.3 56316 1.4 FOXA2 RAD21 ZSCAN5C ATF7 IKZF2 CEBPB REST ZEB2 ELF1 ZNF843 LOC100507468 AUTS2 GC07P069668
GH07H069655 0.9 Ensembl ENCODE 11.8 +58.5 58520 2.1 ZEB2 ZNF2 ZBTB40 OSR2 PRDM6 ZNF366 POLR2A GLIS1 ZNF629 SCRT2 LOC100507468 AUTS2 GC07P069668
GH07H069650 0.8 ENCODE 12 +53.0 52968 1.1 HDGF BACH1 BATF YY1 RELA EED ZNF207 ATF7 ETV6 RUNX3 LOC100507468 AUTS2 GC07P069668
GH07H069823 0.8 ENCODE 11.5 +226.7 226680 2.7 CTCF PKNOX1 BACH1 CEBPG RAD21 IRF9 EED SMC3 ZNF143 ATF7 AUTS2 LOC100507468 GC07M069307 GC07P069668
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000213170 425 3401 PKNOX1 FEZF1 GLI4 ZNF2 ZNF121 GLIS2 KLF7 RUNX3 SP3 YY2

Genomic Locations for AUTS2 Gene

Genomic Locations for AUTS2 Gene
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

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

Gene Families for AUTS2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

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

Function for AUTS2 Gene

Phenotypes From GWAS Catalog for AUTS2 Gene

Gene Ontology (GO) - Molecular Function for AUTS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0003682 chromatin binding IDA 25519132
genes like me logo Genes that share ontologies with AUTS2: view
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

Clone Products

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

Localization for AUTS2 Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AUTS2 gene
Compartment Confidence
nucleus 5
cytosol 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for AUTS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005634 nucleus IEA --
GO:0015629 colocalizes_with actin cytoskeleton ISS --
GO:0030426 growth cone ISS --
genes like me logo Genes that share ontologies with AUTS2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for AUTS2 Gene

Pathways & Interactions for AUTS2 Gene

SuperPathways for AUTS2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for AUTS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001764 neuron migration ISS --
GO:0008150 biological_process ND --
GO:0010592 positive regulation of lamellipodium assembly ISS --
GO:0031532 actin cytoskeleton reorganization ISS --
GO:0035022 positive regulation of Rac protein signal transduction ISS --
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:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, PaxDb, and MOPED for AUTS2 Gene

NURSA nuclear receptor signaling pathways regulating expression of AUTS2 Gene:


SOURCE GeneReport for Unigene cluster for AUTS2 Gene:


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.

Evidence on tissue expression from TISSUES for AUTS2 Gene

  • Nervous system(4.8)
  • Liver(4.2)
  • Muscle(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for AUTS2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • eye
  • eyelid
  • face
  • head
  • lip
  • mouth
  • nose
  • skull
  • lung
  • rib
  • rib cage
  • pelvis
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with AUTS2: view

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
(Pan troglodytes)
Mammalia AUTS2 33 34
  • 99.63 (n)
(Canis familiaris)
Mammalia AUTS2 33 34
  • 92.97 (n)
(Bos Taurus)
Mammalia AUTS2 34
  • 90 (a)
(Monodelphis domestica)
Mammalia AUTS2 34
  • 89 (a)
(Rattus norvegicus)
Mammalia LOC100362819 33
  • 87.18 (n)
(Mus musculus)
Mammalia Auts2 33 16 34
  • 87.01 (n)
(Ornithorhynchus anatinus)
Mammalia AUTS2 34
  • 65 (a)
(Gallus gallus)
Aves AUTS2 34 33
  • 79.19 (n)
(Anolis carolinensis)
Reptilia AUTS2 34
  • 83 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia auts2 33
  • 69.22 (n)
Str.16422 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.20523 33
(Danio rerio)
Actinopterygii auts2 33 34
  • 66.61 (n)
Species where no ortholog for AUTS2 was found in the sources mined by GeneCards:
  • 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
rs1057517708 Pathogenic 70,766,128(+) TCTTG(C/T)GACAG reference, stop-gained
rs1057518198 Pathogenic 70,764,835(+) CCCCC(-/T)CTCCC reference, frameshift-variant, utr-variant-5-prime
rs864321694 Pathogenic 70,762,984(+) TTGCA(-/AA)GAGCC upstream-variant-2KB, reference, frameshift-variant
rs886041609 Pathogenic 70,777,144(+) GCCTG(A/G)CAGAT reference, stop-gained
rs886041671 Pathogenic 70,763,131(+) CCCCC(-/C)ACCTC upstream-variant-2KB, reference, frameshift-variant

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

Variant ID Type Subtype PubMed ID
nsv957002 CNV deletion 24416366
nsv831022 CNV loss 17160897
nsv831021 CNV loss 17160897
nsv821229 CNV deletion 20802225
nsv820114 CNV gain 19587683
nsv607437 CNV gain 21841781
nsv607434 CNV loss 21841781
nsv607433 CNV loss 21841781
nsv607432 CNV loss 21841781
nsv607431 CNV loss 21841781
nsv607430 CNV loss 21841781
nsv607429 CNV loss 21841781
nsv5784 CNV insertion 18451855
nsv5783 CNV deletion 18451855
nsv528973 CNV loss 19592680
nsv522876 CNV loss 19592680
nsv519090 CNV gain 19592680
nsv510088 OTHER sequence alteration 20534489
nsv478660 CNV novel sequence insertion 20440878
nsv472814 CNV novel sequence insertion 20440878
nsv464546 CNV loss 19166990
nsv442052 CNV loss 18776908
nsv428169 CNV gain 18775914
nsv1149886 CNV deletion 26484159
nsv1146102 OTHER inversion 26484159
nsv1140804 CNV deletion 24896259
nsv1128339 CNV deletion 24896259
nsv1076918 CNV deletion 25765185
nsv1076625 CNV duplication 25765185
nsv1028870 CNV gain 25217958
nsv1024524 CNV loss 25217958
nsv1022759 CNV gain 25217958
nsv1017876 CNV gain 25217958
nsv1017575 CNV gain 25217958
esv3613611 CNV gain 21293372
esv3613610 CNV loss 21293372
esv3613608 CNV loss 21293372
esv3613607 CNV gain 21293372
esv3613605 CNV loss 21293372
esv3613604 CNV loss 21293372
esv3613602 CNV loss 21293372
esv3613601 CNV loss 21293372
esv3613599 CNV loss 21293372
esv3613598 CNV gain 21293372
esv3613597 CNV gain 21293372
esv3613596 CNV loss 21293372
esv3613595 CNV loss 21293372
esv3613594 CNV loss 21293372
esv3613593 CNV loss 21293372
esv3571911 CNV loss 25503493
esv3571910 CNV loss 25503493
esv3541863 CNV deletion 23714750
esv3541861 CNV deletion 23714750
esv3429775 CNV insertion 20981092
esv3370206 CNV duplication 20981092
esv3358302 CNV insertion 20981092
esv3333374 CNV insertion 20981092
esv2759536 CNV gain 17122850
esv27068 CNV gain 19812545
esv2678753 CNV deletion 23128226
esv2672798 CNV deletion 23128226
esv2672247 CNV deletion 23128226
esv2670456 CNV deletion 23128226
esv2668064 CNV deletion 23128226
esv2664680 CNV deletion 23128226
esv2659012 CNV deletion 23128226
esv2555170 CNV insertion 19546169
esv2014387 CNV deletion 18987734
esv1786451 CNV insertion 17803354
esv1769312 CNV insertion 17803354
esv1333857 CNV deletion 17803354
esv1237822 CNV insertion 17803354
esv1007231 CNV deletion 20482838
dgv3850e59 CNV insertion 20981092
dgv3849e59 CNV duplication 20981092
dgv3583n106 CNV duplication 24896259
dgv11437n54 CNV loss 21841781

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)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for AUTS2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
mental retardation, autosomal dominant 26
  • mrd26
leukemia, acute lymphoblastic 3
  • acute lymphoblastic leukemia, susceptibility to 3
heroin dependence
autosomal dominant non-syndromic intellectual disability
  • autosomal dominant mental retardation
- 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 EC (Genomics 2002) 2 3 4 60
  2. An AUTS2-Polycomb complex activates gene expression in the CNS. (PMID: 25519132) Gao Z … Reinberg D (Nature 2014) 2 3 60
  3. Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus. (PMID: 23332918) Beunders G … Sistermans EA (American journal of human genetics 2013) 3 4 60
  4. Genome-wide association and genetic functional studies identify autism susceptibility candidate 2 gene (AUTS2) in the regulation of alcohol consumption. (PMID: 21471458) Schumann G … Elliott P (Proceedings of the National Academy of Sciences of the United States of America 2011) 3 45 60
  5. Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes. (PMID: 19546859) Elia J … White PS (Molecular psychiatry 2010) 3 45 60

Products for AUTS2 Gene

Sources for AUTS2 Gene

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