ASXL2

Chr 2p23.3

ASXL transcriptional regulator 2

Aliases:: ASXH2, FLJ10898, KIAA1685
MANE:: ENST00000435504.9

OMIM: 612991 ↗NCBI: 55252 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

ASXL2 · Q76L83

v62025-08-01

Predicted Aligned Error matrix for ASXL2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

46.7/ 100

Very low

1,435 residues

Confidence breakdown

Very high(≥ 90)4%
Confident(70–90)14%
Low(50–70)8%
Very low(< 50)74%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hydrocephalus
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

Shashi-Pena syndrome
0.75
hereditary disease
0.42
syndromic intellectual disability
0.41
urinary bladder cancer
0.40
Abnormality of the skeletal system
0.39
hypothyroidism
0.38
neurodegenerative disease
0.35
acute myeloid leukemia
0.35
gout
0.31
atrial fibrillation
0.30

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

Protein function (UniProt)

Putative Polycomb group protein ASXL2

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). Involved in transcriptional regulation mediated by ligand-bound nuclear hormone receptors, such as peroxisome proliferator-activated receptor gamma (PPARG). Acts as coactivator for PPARG and enhances its adipocyte differentiation-inducing activity; the function seems to involve differential recruitment of acetylated and methylated histone H3. 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 (By similarity) (PubMed:30664650). The ASXL proteins are essential for chromatin recruitment and transcriptional activation of associated genes (By similarity). ASXL1 and ASXL2 are important for BAP1 protein stability (PubMed:30664650)