ASXL2

ASXL2

Introduction

<table class="infobox infobox-gene">
<tr>
<th class="infobox-header" colspan="2">ASXL2</th>
</tr>
<tr>
<td class="label">Gene Symbol</td>
<td>ASXL2</td>
</tr>
<tr>
<td class="label">Full Name</td>
<td>Additional Sex Combs Like 2, Transcriptional Regulator</td>
</tr>
<tr>
<td class="label">Chromosomal Location</td>
<td>2q11.2</td>
</tr>
<tr>
<td class="label">NCBI Gene ID</td>
<td>[83852](https://www.ncbi.nlm.nih.gov/gene/83852)</td>
</tr>
<tr>
<td class="label">OMIM</td>
<td>[612991](https://www.omim.org/entry/612991)</td>
</tr>
<tr>
<td class="label">Ensembl ID</td>
<td>ENSG00000143970</td>
</tr>
<tr>
<td class="label">UniProt</td>
<td>[Q76N03](https://www.uniprot.org/uniprot/Q76N03)</td>
</tr>
<tr>
<td class="label">Associated Diseases</td>
<td>[Bohring-Opitz Syndrome](/diseases/bohring-opitz-syndrome), [Autism Spectrum Disorder](/diseases/autism-spectrum-disorder)</td>
</tr>
</table>

Asxl2 is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.

--- [@asxl2018]
title: ASXL2 [@asxl2021]
:: infobox .infobox-gene
::

Overview

ASXL2

Introduction

<table class="infobox infobox-gene">
<tr>
<th class="infobox-header" colspan="2">ASXL2</th>
</tr>
<tr>
<td class="label">Gene Symbol</td>
<td>ASXL2</td>
</tr>
<tr>
<td class="label">Full Name</td>
<td>Additional Sex Combs Like 2, Transcriptional Regulator</td>
</tr>
<tr>
<td class="label">Chromosomal Location</td>
<td>2q11.2</td>
</tr>
<tr>
<td class="label">NCBI Gene ID</td>
<td>[83852](https://www.ncbi.nlm.nih.gov/gene/83852)</td>
</tr>
<tr>
<td class="label">OMIM</td>
<td>[612991](https://www.omim.org/entry/612991)</td>
</tr>
<tr>
<td class="label">Ensembl ID</td>
<td>ENSG00000143970</td>
</tr>
<tr>
<td class="label">UniProt</td>
<td>[Q76N03](https://www.uniprot.org/uniprot/Q76N03)</td>
</tr>
<tr>
<td class="label">Associated Diseases</td>
<td>[Bohring-Opitz Syndrome](/diseases/bohring-opitz-syndrome), [Autism Spectrum Disorder](/diseases/autism-spectrum-disorder)</td>
</tr>
</table>

Asxl2 is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.

--- [@asxl2018]
title: ASXL2 [@asxl2021]
:: infobox .infobox-gene
::

Overview

ASXL2 (Additional Sex Combs Like 2) is a gene located on chromosome 2q11.2 that encodes a transcriptional regulator protein involved in epigenetic modification and chromatin remodeling. ASXL2 is a member of the ASXL family, closely related to ASXL1, and functions as a cofactor for histone modification enzymes. The protein is involved in histone H3K27 methylation and demethylation processes that regulate gene expression during development and in adult tissues. ASXL2 plays important roles in neuronal development, synaptic plasticity, and cognitive function. While ASXL2 mutations are less common than ASXL1 mutations in human disease, they have been associated with Bohring-Opitz syndrome and autism spectrum disorder, highlighting its importance in neurodevelopment.

Function

ASXL2 (Additional Sex Combs Like 2) encodes a chromatin-binding protein that functions as a transcriptional regulator. Like ASXL1, ASXL2 is involved in epigenetic regulation through interactions with the Polycomb repressive complex 2 (PRC2) and histone-modifying enzymes. It plays important roles in development and tissue-specific gene expression [1](https://doi.org/10.1016/j.tcb.2020.08.004).

Disease Associations

Autism Spectrum Disorder (ASD)

De novo mutations in ASXL2 have been identified in individuals with autism spectrum disorder. ASXL2 deficiency may affect synaptic function and neural connectivity through dysregulation of developmental gene expression [2](https://doi.org/10.1038/mp.2016.95).

Schizophrenia

Rare ASXL2 variants have been associated with increased risk for schizophrenia. Altered epigenetic regulation by ASXL2 may contribute to neurotransmitter system dysregulation and circuit dysfunction [3](https://doi.org/10.1038/s41380-020-00978-w).

Neurodevelopmental Disorders

ASXL2 mutations cause a neurodevelopmental syndrome characterized by intellectual disability, speech delay, and behavioral abnormalities. The phenotype overlaps with ASXL1-related disorders but is often milder.

Expression

ASXL2 is expressed in neural stem cells, excitatory [neurons](/entities/neurons), and inhibitory neurons throughout the brain. High expression is observed in the cerebral [cortex](/brain-regions/cortex), [hippocampus](/brain-regions/hippocampus), and cerebellum during development.

Key Publications

Background

The study of Asxl2 has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.

Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.

External Links

• [ASXL2 Gene - NCBI](https://www.ncbi.nlm.nih.gov/gene/83852)
• [ASXL2 - UniProt](https://www.uniprot.org/uniprot/Q76N03)
• [ASXL2 - Ensembl](https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000143970)
• [OMIM: ASXL2](https://www.omim.org/entry/612991)

Cross-Links

• [ASXL2 Protein](/proteins/asxl2-protein)
• Bohring-Opitz Syndrome
• [Epigenetic Regulation](/mechanisms/epigenetic-regulation)

References