AUTS2

Chr 7q11.22

activator of transcription and developmental regulator AUTS2

Aliases:: KIAA0442, FBRSL2
MANE:: ENST00000342771.10

OMIM: 607270 ↗NCBI: 26053 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

AUTS2 · Q8WXX7

v62025-08-01

Predicted Aligned Error matrix for AUTS2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

41.5/ 100

Very low

1,259 residues

Confidence breakdown

Very high(≥ 90)0%
Confident(70–90)3%
Low(50–70)8%
Very low(< 50)89%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Clefting
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebellar hypoplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

autism spectrum disorder due to AUTS2 deficiency
0.73
syndromic intellectual disability
0.60
hereditary disease
0.53
type 2 diabetes mellitus
0.49
obesity disorder
0.46
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
0.44
Intellectual disability
0.43
overnutrition
0.43
hypertensive disorder
0.42
autism
0.40

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Autism susceptibility gene 2 protein

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)