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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Activator of transcription and developmental regulator AUTS2
Protein classi
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Human disease related genes Plasma proteins
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
7
Cytoband
q11.22
Chromosome location (bp)
69598296 - 70793506
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
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 1. 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 2. As a consequence, the complex mediates transcriptional activation 3. 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)....show less
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Transcription, Transcription regulation
Gene summary (Entrez)i
Useful information about the gene from Entrez
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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
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Q8WXX7 [Direct mapping] Autism susceptibility gene 2 protein
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Human disease related genes Other diseases Mental and behavioural disorders Mapped to neXtProt neXtProt - Evidence at protein level
Q8WXX7 [Direct mapping] Autism susceptibility gene 2 protein
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Human disease related genes Other diseases Mental and behavioural disorders Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014)
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders
A0A2R8YEX6 [Direct mapping] Autism susceptibility gene 2 protein
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders
A0A2R8Y516 [Direct mapping] Autism susceptibility gene 2 protein
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders
A0A2R8Y568 [Direct mapping] Autism susceptibility gene 2 protein
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders
A0A2R8Y8C6 [Direct mapping] Autism susceptibility gene 2 protein
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders
A0A2R8Y6Q9 [Direct mapping] Autism susceptibility gene 2 protein
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders
A0A2R8Y522 [Direct mapping] Autism susceptibility gene 2 protein
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders
A0A590UJP3 [Direct mapping] Autism susceptibility gene 2 protein
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders
A0A590UK55 [Direct mapping] Autism susceptibility gene 2 protein
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders