Human Gene AUTS2 (ENST00000342771.10_12) from GENCODE V47lift37
  Description: activator of transcription and developmental regulator AUTS2, transcript variant 1 (from RefSeq NM_015570.4)
Gencode Transcript: ENST00000342771.10_12
Gencode Gene: ENSG00000158321.19_22
Transcript (Including UTRs)
   Position: hg19 chr7:69,063,461-70,258,492 Size: 1,195,032 Total Exon Count: 19 Strand: +
Coding Region
   Position: hg19 chr7:69,064,640-70,255,982 Size: 1,191,343 Coding Exon Count: 19 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:69,063,461-70,258,492)mRNA (may differ from genome)Protein (1259 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCHuman Cortex Gene ExpressionMalacardsMGIOMIMPubMed
ReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: AUTS2_HUMAN
DESCRIPTION: RecName: Full=Autism susceptibility gene 2 protein;
TISSUE SPECIFICITY: Strongly expressed in brain, skeletal muscle and kidney. Also expressed in placenta, lung and leukocytes.
SIMILARITY: Belongs to the AUTS2 family.
SEQUENCE CAUTION: Sequence=BAA23714.2; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: AUTS2
Diseases sorted by gene-association score: mental retardation, autosomal dominant 26* (1369), leukemia, acute lymphoblastic 3* (106), heroin dependence (11), alopecia (7), autosomal dominant non-syndromic intellectual disability (4), autism spectrum disorder (3), intellectual disability (2), pervasive developmental disorder (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 10.67 RPKM in Minor Salivary Gland
Total median expression: 251.59 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -538.301179-0.457 Picture PostScript Text
3' UTR -659.802510-0.263 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR023246 - AUTS2

Pfam Domains:
PF15336 - Autism susceptibility gene 2 protein

ModBase Predicted Comparative 3D Structure on Q8WXX7
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003674 molecular_function
GO:0003682 chromatin binding
GO:0005515 protein binding

Biological Process:
GO:0001764 neuron migration
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0008150 biological_process
GO:0010592 positive regulation of lamellipodium assembly
GO:0031532 actin cytoskeleton reorganization
GO:0035022 positive regulation of Rac protein signal transduction
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048675 axon extension
GO:0051571 positive regulation of histone H3-K4 methylation
GO:0097484 dendrite extension
GO:2000620 positive regulation of histone H4-K16 acetylation

Cellular Component:
GO:0005575 cellular_component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005856 cytoskeleton
GO:0030426 growth cone
GO:0042995 cell projection
GO:0015629 actin cytoskeleton


-  Descriptions from all associated GenBank mRNAs
  LF384041 - JP 2014500723-A/191544: Polycomb-Associated Non-Coding RNAs.
BC064693 - Homo sapiens autism susceptibility candidate 2, mRNA (cDNA clone MGC:71586 IMAGE:30345831), complete cds.
AF326917 - Homo sapiens autism-related protein 1 (AUTS2) mRNA, complete cds.
AB007902 - Homo sapiens KIAA0442 mRNA.
BC011643 - Homo sapiens autism susceptibility candidate 2, mRNA (cDNA clone IMAGE:4131814), complete cds.
JQ670866 - Homo sapiens autism susceptibility protein 2 long isoform (AUTS2) mRNA, complete cds.
JQ670867 - Homo sapiens autism susceptibility protein 2 (AUTS2) mRNA, complete cds.
AK296981 - Homo sapiens cDNA FLJ58510 complete cds, highly similar to Autism susceptibility gene 2 protein.
MA619618 - JP 2018138019-A/191544: Polycomb-Associated Non-Coding RNAs.
AK055586 - Homo sapiens cDNA FLJ31024 fis, clone HLUNG2000489.
JC506674 - Sequence 42 from Patent EP2733220.
JC506688 - Sequence 56 from Patent EP2733220.
JC737786 - Sequence 42 from Patent WO2014075939.
JC737800 - Sequence 56 from Patent WO2014075939.
JD286359 - Sequence 267383 from Patent EP1572962.
JD523557 - Sequence 504581 from Patent EP1572962.
JD396521 - Sequence 377545 from Patent EP1572962.
JD226676 - Sequence 207700 from Patent EP1572962.
JD416892 - Sequence 397916 from Patent EP1572962.
JD389325 - Sequence 370349 from Patent EP1572962.
JD497952 - Sequence 478976 from Patent EP1572962.
JD538150 - Sequence 519174 from Patent EP1572962.
JD497543 - Sequence 478567 from Patent EP1572962.
AK022458 - Homo sapiens cDNA FLJ12396 fis, clone MAMMA1002758.
AK025298 - Homo sapiens cDNA: FLJ21645 fis, clone COL08436.
JD139337 - Sequence 120361 from Patent EP1572962.
JD061908 - Sequence 42932 from Patent EP1572962.
JD434419 - Sequence 415443 from Patent EP1572962.
JD103048 - Sequence 84072 from Patent EP1572962.
JD061996 - Sequence 43020 from Patent EP1572962.
JD058266 - Sequence 39290 from Patent EP1572962.
JD312410 - Sequence 293434 from Patent EP1572962.
JD232214 - Sequence 213238 from Patent EP1572962.
JD532851 - Sequence 513875 from Patent EP1572962.
JD223415 - Sequence 204439 from Patent EP1572962.
JD279238 - Sequence 260262 from Patent EP1572962.
AY211931 - Homo sapiens sarcoma antigen NY-SAR-113 mRNA, partial cds.
JD548440 - Sequence 529464 from Patent EP1572962.
JD292828 - Sequence 273852 from Patent EP1572962.
JD284691 - Sequence 265715 from Patent EP1572962.
JD046798 - Sequence 27822 from Patent EP1572962.
JD534005 - Sequence 515029 from Patent EP1572962.
JD082392 - Sequence 63416 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q8WXX7 (Reactome details) participates in the following event(s):

R-HSA-8937989 RUNX1 binds PRC1 complexes
R-HSA-8939243 RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
R-HSA-8878171 Transcriptional regulation by RUNX1
R-HSA-212436 Generic Transcription Pathway
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: A4D1Y9, AUTS2_HUMAN, ENST00000342771.1, ENST00000342771.2, ENST00000342771.3, ENST00000342771.4, ENST00000342771.5, ENST00000342771.6, ENST00000342771.7, ENST00000342771.8, ENST00000342771.9, KIAA0442, L7QET3, L7QF75, NM_015570, Q5D049, Q6PJU5, Q8WXX7, Q9Y4F2, uc317wll.1, uc317wll.2
UCSC ID: ENST00000342771.10_12
RefSeq Accession: NM_015570.4
Protein: Q8WXX7 (aka AUTS2_HUMAN or AUT2_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.