ASXL3

Chr 18q12.1

ASXL transcriptional regulator 3

MANE:: ENST00000269197.12

OMIM: 615115 ↗NCBI: 80816 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

ASXL3 · Q9C0F0

v62025-08-01

Predicted Aligned Error matrix for ASXL3 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

39.4/ 100

Very low

2,248 residues

Confidence breakdown

Very high(≥ 90)3%
Confident(70–90)8%
Low(50–70)5%
Very low(< 50)84%

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
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rare syndromic craniosynostosis or isolated multisuture synostosis
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

Severe feeding difficulties - failure to thrive - microcephaly due to ASXL3 deficiency
0.79
severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
0.75
hereditary disease
0.55
Intellectual disability
0.52
autism spectrum disorder
0.46
neurodevelopmental disorder
0.43
syndromic intellectual disability
0.40
Abnormality of the skeletal system
0.37
insomnia
0.37
mathematical ability
0.36

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

Protein function (UniProt)

Putative Polycomb group protein ASXL3

Putative Polycomb group (PcG) protein. PcG proteins act by forming multiprotein complexes, which are required to maintain the transcriptionally repressive state of homeotic genes throughout development. PcG proteins are not required to initiate repression, but to maintain it during later stages of development. They probably act via methylation of histones, rendering chromatin heritably changed in its expressibility (By similarity). Non-catalytic component of the PR-DUB complex, a complex that specifically mediates deubiquitination of histone H2A monoubiquitinated at 'Lys-119' (H2AK119ub1) (PubMed:30664650, PubMed:36180891). The PR-DUB complex is an epigenetic regulator of gene expression and acts as a transcriptional coactivator, affecting genes involved in development, cell communication, signaling, cell proliferation and cell viability (PubMed:30664650, PubMed:36180891). ASXL1, ASXL2 and ASXL3 function redundantly in the PR-DUB complex and are essential for chromatin recruitment and transcriptional activation of associated genes (By similarity)