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- Table of Contents
Facts about Autism susceptibility gene 2 protein.
The PRC1-like complex which 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).
Human | |
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Gene Name: | AUTS2 |
Uniprot: | Q8WXX7 |
Entrez: | 26053 |
Belongs to: |
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AUTS2 family |
autism susceptibility candidate 2; autism susceptibility gene 2 protein; autism-related protein 1; KIAA0442FBRSL2; MGC13140
Mass (kDA):
138.982 kDA
Human | |
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Location: | 7q11.22 |
Sequence: | 7; NC_000007.14 (69598475..70793506) |
Strongly expressed in brain, skeletal muscle and kidney. Also expressed in placenta, lung and leukocytes.
Nucleus. Cytoplasm, cytoskeleton. Cell projection, growth cone. Detected both in cytoplasm and nucleus. Colocalizes with RAC1 at actin-rich growth cones. Detected on the promoter region of actively transcribed genes.
The AUTS2 gene is found in a genomic region called chromosome 17q11.2. It is one the earliest markers of human development and is associated several neurodevelopmental disorders including autism spectrum disorder (ASD). However, no single-base-pair variants in AUTS2 have been associated with autism, despite numerous exome sequencing studies.
Neurodevelopmental delays can be associated with AUTS2-related phenotypes. Five patients were identified with pathogenic variants of this gene. Four of these patients have AUTS2 phenotypes. All four patients also have cognitive disabilities, such as intellectual disability, and attention deficit/hyperactivity disorder. These symptoms are not understood.
AUTS2 is comprised of 19 exons and spans 1.2 Mb of genomic DNA. It plays two physiological roles. The cytoplasmic components control the actin cytoskeleton. The nuclear portion regulates the expression of genes. PRC1 and SEMA5A are two of its targets. This genetic region is important for neuronal migration and extension. It is therefore crucial to understand and characterize this mutational spectrum.
Numerous studies have shown a causal relationship between developmental disabilities and pathogenic AUTS2 variants. AUTS2 syndrome has been identified as a distinct ID phenotype, associated with atypical behaviors. It is important that a patient's genetic variant for this syndrome is identified. It is important to remember that the AUTS2 region of the gene is a common candidate for autism spectrum disorders.
There has been much controversy about the role of AUTS2 and its role in neurodevelopment and the development autism spectrum disorders. It is well-known that the protein regulates neuronal differentiation, migration, neurite formation, and other TFs. It also regulates the expression synaptic molecules and cell adhesion proteins, and coordinates transcriptional activities in neuronal division and synapse creation.
Understanding the function of Auts2 as well as its regulatory mechanisms will help to identify the root causes of neurodevelopmental disorder. Understanding Auts2's function will help determine the best treatment for these conditions. It will also help to develop targeted therapies to treat or prevent neurodevelopmental disorders. Scientists are still unsure how Auts2 works in Boster Bio, but they are working on it.
AUTS2 (inhibitory neuron protein) is available in two forms: full-length form (FL) and short exon variant 1 (var. The Allen Brain Atlas experiment #79904156 demonstrates the expression of the AUTS2 genes in the P56 cerebellum, and granule-cell layer. The White Matter includes both a Molecular Layer and a Molecular Layer. However, AUTS2 has been found in both the mouse- and zebrafish-brains.
AUTS2 is crucial for the proper development PC-dendrites. This is a vital component for the development and maintenance of the cerebellum. In this area of brain, the absence of Auts2 may lead to cerebellar disorder and psychiatric conditions. The missing or reduced function of Auts2 may also lead to these disorders in humans. Further research is necessary to better understand the role of Auts2 during brain development.
Researchers identified AUTS2 (the gene containing a most significantly accelerated genetic region) as the one that separates humans and Neanderthals. To identify regulatory regions that regulate gene expression, the researchers conducted enhancer assays using transgenic zebrafish and mouse genomes. They then identified and characterized AUTS2 brain enhancers. The authors also characterized regions that overlap with deletions associated with autism spectrum disorder.
Interestingly, the study found that humans and mice share several genomic alterations in this region. Mutations of STAG3 and STAG3L1-6, which encode noncoding RNAs, have been associated with neurodevelopmental disorders. AUTS2, an evolutionary conserved and nuclear protein, plays a vital role in the growth of human brain cells. Mutations of AUTS2 have been associated with neurodevelopmental disorders and have been found in T-ALL cell lines. AUTS2 is expressed by leukocytes in humans and fetal heads.
Researchers have mapped Auts2-marked genomic areas to their transcription start locations in an effort to understand the potential role of AUTS2 within human evolution. This analysis revealed two genes associated with autism - NRXN1 & ATP2B2 - are near AUTS2 enhancers.
Pathogenic variants of AUTS2 have been linked to intellectual disability, autism spectrum disorder, attention deficit hyperactivity disorder, and intellectual disability. Facial dysmorphism and short stature have also been linked to the gene. Until now, no family with this mutation had been reported. However, a family now has three generations with AUTS2 frameshift mutants. If this gene is associated with autism, the disease can be inherited from parents.
T-ALL has a high level of regulation of AUTS2 expression in hematopoietic cells. Aberrant activation of AUTS2 in T-ALL cells led to further investigation of its regulation. We used high and low levels cell lines that express AuTS2 to test whether AUTS2 was regulated in TALL cells.
PMID: 12160723 by Sultana R., et al. Identification of a novel gene on chromosome 7q11.2 interrupted by a translocation breakpoint in a pair of autistic twins.
PMID: 23332918 by Beunders G., et al. Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.