AUTS2

AUTS2, activator of transcription and developmental regulator is a protein that in humans is encoded by the AUTS2 gene.^[5]

AUTS2
Identifiers
Aliases	AUTS2, FBRSL2, MRD26, activator of transcription and developmental regulator, activator of transcription and developmental regulator AUTS2
External IDs	OMIM: 607270; MGI: 1919847; HomoloGene: 22907; GeneCards: AUTS2; OMA:AUTS2 - orthologs
Gene location (Human) Chr. Chromosome 7 (human)[1] Band 7q11.22 Start 69,598,296 bp[1] End 70,793,506 bp[1]
Gene location (Mouse) Chr. Chromosome 5 (mouse)[2] Band 5|5 G2 Start 131,466,171 bp[2] End 132,572,183 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in tibia ganglionic eminence bronchial epithelial cell sural nerve mucosa of paranasal sinus parotid gland lactiferous duct dorsal motor nucleus of vagus nerve skin of thigh external globus pallidus Top expressed in lacrimal gland zygote fossa ganglionic eminence condyle medial ganglionic eminence ascending aorta nucleus accumbens transitional epithelium of urinary bladder amygdala More reference expression data BioGPS n/a
Gene ontology Molecular function chromatin binding protein binding molecular function Cellular component nucleus growth cone cytoplasm cytoskeleton cell projection cellular component actin cytoskeleton Biological process positive regulation of histone H3-K4 methylation positive regulation of transcription by RNA polymerase II positive regulation of histone H4-K16 acetylation transcription, DNA-templated regulation of transcription, DNA-templated biological process neuron migration positive regulation of lamellipodium assembly actin cytoskeleton reorganization positive regulation of Rac protein signal transduction axon extension dendrite extension righting reflex innate vocalization behavior forebrain neuron development embryonic viscerocranium morphogenesis neuron cellular homeostasis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 26053 319974 Ensembl ENSG00000158321 ENSMUSG00000029673 UniProt Q8WXX7 A0A087WPF7 RefSeq (mRNA) NM_001127231 NM_001127232 NM_015570 NM_001363480 RefSeq (protein) NP_001120703 NP_001120704 NP_056385 NP_001350409 Location (UCSC) Chr 7: 69.6 – 70.79 Mb Chr 5: 131.47 – 132.57 Mb PubMed search [3] [4]
Wikidata
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Function

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.