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 cert... See more...

Aliases for AUTS2 Gene

Aliases for AUTS2 Gene

  • Activator Of Transcription And Developmental Regulator AUTS2 2 3 5
  • Autism Susceptibility Gene 2 Protein 3 4
  • Autism Susceptibility Candidate 2 2 3
  • KIAA0442 2 4
  • FBRSL2 2 3
  • AUTS2, Activator Of Transcription And Developmental Regulator 3
  • Autism-Related Protein 1 3
  • MRD26 3
  • AUTS2 5

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 (Activator Of Transcription And Developmental Regulator AUTS2) is a Protein Coding gene. Diseases associated with AUTS2 include Mental Retardation, Autosomal Dominant 26 and Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability. An important paralog of this gene is FBRSL1.

UniProtKB/Swiss-Prot Summary for AUTS2 Gene

  • Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility (PubMed:25519132). The PRC1-like complex that contains PCGF5, RNF2, CSNK2B, RYBP and AUTS2 has decreased histone H2A ubiquitination activity, due to the phosphorylation of RNF2 by CSNK2B (PubMed:25519132). As a consequence, the complex mediates transcriptional activation (PubMed:25519132). In the cytoplasm, plays a role in axon and dendrite elongation and in neuronal migration during embryonic brain development. Promotes reorganization of the actin cytoskeleton, lamellipodia formation and neurite elongation via its interaction with RAC guanine nucleotide exchange factors, which then leads to the activation of RAC1 (By similarity).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AUTS2 Gene

Genomics for AUTS2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for AUTS2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J069596 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 604.8 +0.8 776 5.1 ZNF629 PRDM10 KDM1A ZNF692 BACH1 ZNF300 LARP7 PRDM1 ZIC2 ZSCAN4 AUTS2 CT66 lnc-AUTS2-1 RF00017-6259 RF00951-133
GH07J069654 Enhancer 1.2 Ensembl ENCODE CraniofacialAtlas 12 +58.2 58205 9 TEAD4 ZNF629 ZNF692 FOXA1 GABPA IKZF2 SP1 ZNF600 CEBPA ATF7 AUTS2 CT66 RNU6-229P RF00951-133 RF00017-6259
GH07J069737 Enhancer 1.2 Ensembl ENCODE CraniofacialAtlas 11.2 +140.4 140405 5 SP1 ZNF629 ZNF692 POLR2A BACH1 FOXA1 JUND RELA ZIC2 PATZ1 AUTS2 CT66 RF00951-133 RF00017-6259
GH07J069823 Promoter/Enhancer 1.1 Ensembl ENCODE 11.4 +226.9 226859 2.7 CEBPG BACH1 RAD21 TCF12 IKZF2 TRIM22 PKNOX1 EED CEBPB ARID3A AUTS2 CT66 RF00951-133
GH07J069748 Enhancer 0.8 FANTOM5 Ensembl 15.6 +151.3 151305 2.4 TEAD4 IKZF2 PKNOX1 RUNX3 USF1 BCL11A EBF1 ZNF660 TBX21 ATF7 AUTS2 CT66 RF00951-133 RF00017-6259
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AUTS2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AUTS2

Top Transcription factor binding sites by QIAGEN in the AUTS2 gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • FOXL1
  • Gfi-1
  • HFH-1
  • Pax-4a

Genomic Locations for AUTS2 Gene

Genomic Locations for AUTS2 Gene
chr7:69,598,296-70,793,506
(GRCh38/hg38)
Size:
1,195,211 bases
Orientation:
Plus strand
chr7:69,063,905-70,258,054
(GRCh37/hg19)
Size:
1,194,150 bases
Orientation:
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:
    Q8WXX7-AUTS2_HUMAN
    Recommended name:
    Autism susceptibility gene 2 protein
    Protein Accession:
    Q8WXX7
    Secondary Accessions:
    • A4D1Y9
    • L7QET3
    • L7QF75
    • Q5D049
    • Q6PJU5
    • Q9Y4F2

    Protein attributes for AUTS2 Gene

    Size:
    1259 amino acids
    Molecular mass:
    138982 Da
    Quaternary structure:
    • Component of a PRC1-like complex that contains PCGF5, RNF2, CSNK2B, RYBP and AUTS2. Within this complex, interacts directly with PCGF5 and CSNK2B (PubMed:25519132). Interacts with the histone acetyltransferase EP300/p300 (PubMed:25519132). Interacts (via Pro-rich region) with PREX1, DOCK1 and ELMO2 (By similarity).
    SequenceCaution:
    • Sequence=BAA23714.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for AUTS2 Gene

    UniProtKB/Swiss-Prot:

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

InterPro:
Blocks:
  • Pancreatic trypsin inhibitor (Kunitz)
ProtoNet:

Suggested Antigen Peptide Sequences for AUTS2 Gene

GenScript: Design optimal peptide antigens:
  • Autism susceptibility gene 2 protein (AUTS2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8WXX7

UniProtKB/Swiss-Prot:

AUTS2_HUMAN :
  • The Pro-rich region is important for the interaction with RAC guanine nucleotide exchange factors and the subsequent activation of RAC1, which then promotes lamellipodia formation.
  • Belongs to the AUTS2 family.
Domain:
  • The Pro-rich region is important for the interaction with RAC guanine nucleotide exchange factors and the subsequent activation of RAC1, which then promotes lamellipodia formation.
Family:
  • Belongs to the AUTS2 family.
genes like me logo Genes that share domains with AUTS2: view

Function for AUTS2 Gene

Molecular function for AUTS2 Gene

UniProtKB/Swiss-Prot Function:
Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility (PubMed:25519132). The PRC1-like complex that contains PCGF5, RNF2, CSNK2B, RYBP and AUTS2 has decreased histone H2A ubiquitination activity, due to the phosphorylation of RNF2 by CSNK2B (PubMed:25519132). As a consequence, the complex mediates transcriptional activation (PubMed:25519132). In the cytoplasm, plays a role in axon and dendrite elongation and in neuronal migration during embryonic brain development. Promotes reorganization of the actin cytoskeleton, lamellipodia formation and neurite elongation via its interaction with RAC guanine nucleotide exchange factors, which then leads to the activation of RAC1 (By similarity).

Phenotypes From GWAS Catalog for AUTS2 Gene

Gene Ontology (GO) - Molecular Function for AUTS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003682 chromatin binding IDA 25519132
GO:0005515 protein binding IPI 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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AUTS2

Clone Products

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

Localization for AUTS2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AUTS2 Gene

Nucleus. Cytoplasm, cytoskeleton. Cell projection, growth cone. Note=Detected both in cytoplasm and nucleus. Colocalizes with RAC1 at actin-rich growth cones. Detected on the promoter region of actively transcribed genes. {ECO:0000250 UniProtKB:A0A087WPF7}.

Subcellular locations from

COMPARTMENTS
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
cytoskeleton 4
cytosol 3
plasma membrane 1
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
golgi apparatus 1

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:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0015629 colocalizes_with actin cytoskeleton ISS --
genes like me logo Genes that share ontologies with AUTS2: view

Pathways & Interactions for AUTS2 Gene

PathCards logo

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:0010592 positive regulation of lamellipodium assembly ISS --
GO:0031532 actin cytoskeleton reorganization ISS --
GO:0035022 positive regulation of Rac protein signal transduction ISS --
GO:0045944 positive regulation of transcription by RNA polymerase II IDA 25519132
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

mRNA/cDNA for AUTS2 Gene

3 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
33 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AUTS2

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: - -
SP3:
SP4: -
SP5:
SP6:

Relevant External Links for AUTS2 Gene

GeneLoc Exon Structure for
AUTS2

Expression for AUTS2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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 and MOPED for AUTS2 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AUTS2

SOURCE GeneReport for Unigene cluster for AUTS2 Gene:

Hs.21631

mRNA Expression by UniProt/SwissProt for AUTS2 Gene:

Q8WXX7-AUTS2_HUMAN
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(4.4)
  • Muscle(4.4)
  • Skin(2.5)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • eye
  • eyelid
  • face
  • head
  • lip
  • mouth
  • nose
  • skull
Thorax:
  • lung
  • rib
  • rib cage
Pelvis:
  • pelvis
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • 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
Chimpanzee
(Pan troglodytes)
Mammalia AUTS2 30 31
  • 99.63 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia AUTS2 30 31
  • 92.97 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia AUTS2 31
  • 90 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia AUTS2 31
  • 89 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia LOC100362819 30
  • 87.18 (n)
Mouse
(Mus musculus)
Mammalia Auts2 30 17 31
  • 87.01 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia AUTS2 31
  • 65 (a)
OneToOne
Chicken
(Gallus gallus)
Aves AUTS2 30 31
  • 79.19 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia AUTS2 31
  • 83 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia auts2 30
  • 69.22 (n)
Str.16422 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.20523 30
Zebrafish
(Danio rerio)
Actinopterygii auts2 30 31
  • 66.61 (n)
OneToOne
Species where no ortholog for AUTS2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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

ENSEMBL:
Gene Tree for AUTS2 (if available)
TreeFam:
Gene Tree for AUTS2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for AUTS2: view image

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AUTS2 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
666574 Pathogenic: Mental retardation, autosomal dominant 26 70,763,028(+) C/T NONSENSE
697431 Benign: not provided 70,790,906(+) C/G SYNONYMOUS_VARIANT
697442 Likely Benign: not provided 69,899,325(+) C/T MISSENSE_VARIANT
697511 Benign: not provided 70,790,000(+) C/T SYNONYMOUS_VARIANT
697677 Benign: not provided 70,789,802(+) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for AUTS2 Gene

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

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

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)

Additional Variant Information for AUTS2 Gene

Human Gene Mutation Database (HGMD)
AUTS2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AUTS2

SNP Genotyping and Copy Number Assay Products

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

Disorders for AUTS2 Gene

MalaCards: The human disease database

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

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

UniProtKB/Swiss-Prot

AUTS2_HUMAN
  • 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.

Additional Disease Information for AUTS2

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

No data available for Genatlas for AUTS2 Gene

Publications for AUTS2 Gene

  1. An AUTS2-Polycomb complex activates gene expression in the CNS. (PMID: 25519132) Gao Z … Reinberg D (Nature 2014) 2 3 4
  2. 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
  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
  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 41
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41

Products for AUTS2 Gene

Sources for AUTS2 Gene