AUTS2 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human AUTS2 wild-type allele is located in the vicinity of 7q11.22 and is approximately 1195 kb in length. This allele, which encodes autism susceptibility gene 2 protein, plays a role in the downregulation of Polycomb recessive complex 1-dependent histone H2A ubiquitination. Mutations in the gene are associated with autosomal dominant intellectual developmental disorder 26. A chromosomal translocation, t(7;9)(q11;p13), involving the gene and the PAX5 gene is associated with childhood B-cell precursor acute lymphoblastic leukemia. Other rearrangements involving the gene and various partners are associated with solid tumors.

**Synonyms:** - AUTS2, Activator of Transcription and Developmental Regulator Gene - Activator of Transcription and Developmental Regulator AUTS2 wt Allele - Autism Susceptibility Candidate 2 Gene - Autism Susceptibility Gene 2 - FBRSL2 - KIAA0442 - MRD26