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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.
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.