Tbio AUTS2 Autism susceptibility gene 2 protein

Protein Summary

Description

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 (PubMed:25519132). 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 (PubMed:25519132). As a consequence, the complex mediates transcriptional activation (PubMed:25519132). 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). 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]

Uniprot Accession IDs

• Q8WXX7
• A4D1Y9
• L7QET3
• L7QF75
• Q5D049
• Q6PJU5
• Q9Y4F2

Gene Name

• AUTS2

Ensembl ID

• ENST00000342771
• ENSP00000344087
• ENSG00000158321
• ENST00000403018
• ENSP00000385572
• ENST00000406775
• ENSP00000385263

Symbol

• KIAA0442
• MRD26
• FBRSL2

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
trait	0.97
small molecule perturbation	0.82
PubMedID	0.81
transcription factor perturbation	0.8
transcription factor	0.78

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 80.95   (req: < 5)

Gene RIFs: 41   (req: <= 3)

Antibodies: 91   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 80.95   (req: >= 5)

Gene RIFs: 41   (req: > 3)

Antibodies: 91   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 12

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0