CHD5 Gene

title: CHD5 Gene

CHD5 (Chromodomain Helicase DNA Binding Protein 5)

Overview

CHD5 — Chromodomain Helicase DNA Binding Protein 5 is a neuron-specific chromatin remodeler that plays critical roles in neuronal development, synaptic plasticity, and cognitive function. CHD5 is a tumor suppressor frequently deleted in neuroblastoma and other cancers, and its dysfunction has been implicated in neurodegenerative diseases. [@liu2020]

Introduction

CHD5 encodes the chromodomain helicase DNA-binding protein 5, a neuron-specific member of the CHD family. Unlike other CHD proteins, CHD5 expression is largely restricted to neural tissue, where it functions as a potent transcriptional activator. CHD5 regulates gene expression programs essential for neuronal differentiation, synaptic formation, and memory consolidation. [@pezic2021]

<div class="infobox infobox-gene">

| Property | Value |
|----------|-------|
| Gene Symbol | CHD5 |
| Full Name | Chromodomain Helicase DNA Binding Protein 5 |
| Chromosomal Location | 1p36.31 |
| NCBI Gene ID | 84159 |
| OMIM ID | 610569 |
| Ensembl ID | ENSG00000132016 |
| UniProt ID | Q8TDC0 |
| Encoded Protein | Chromodomain helicase DNA-binding protein 5 |
| Associated Diseases | Alzheimer's disease, neuroblastoma, intellectual disability, cancer |

</div>

Function

CHD5 encodes a neuron-specific ATP-dependent chromatin remodeler. Key normal physiological functions include:

...

title: CHD5 Gene

CHD5 (Chromodomain Helicase DNA Binding Protein 5)

Overview

CHD5 — Chromodomain Helicase DNA Binding Protein 5 is a neuron-specific chromatin remodeler that plays critical roles in neuronal development, synaptic plasticity, and cognitive function. CHD5 is a tumor suppressor frequently deleted in neuroblastoma and other cancers, and its dysfunction has been implicated in neurodegenerative diseases. [@liu2020]

Introduction

CHD5 encodes the chromodomain helicase DNA-binding protein 5, a neuron-specific member of the CHD family. Unlike other CHD proteins, CHD5 expression is largely restricted to neural tissue, where it functions as a potent transcriptional activator. CHD5 regulates gene expression programs essential for neuronal differentiation, synaptic formation, and memory consolidation. [@pezic2021]

<div class="infobox infobox-gene">

| Property | Value |
|----------|-------|
| Gene Symbol | CHD5 |
| Full Name | Chromodomain Helicase DNA Binding Protein 5 |
| Chromosomal Location | 1p36.31 |
| NCBI Gene ID | 84159 |
| OMIM ID | 610569 |
| Ensembl ID | ENSG00000132016 |
| UniProt ID | Q8TDC0 |
| Encoded Protein | Chromodomain helicase DNA-binding protein 5 |
| Associated Diseases | Alzheimer's disease, neuroblastoma, intellectual disability, cancer |

</div>

Function

CHD5 encodes a neuron-specific ATP-dependent chromatin remodeler. Key normal physiological functions include:

• Transcriptional activation - CHD5 activates neuronal gene expression programs
• Chromatin opening - Facilitates DNA accessibility for transcription factors
• Histone modification - Associates with H3K4 methyltransferases for active marks
• Neuronal differentiation - Essential for neural progenitor differentiation
• Synapse formation - Regulates genes involved in synaptic development
• Memory consolidation - Critical for long-term memory formation

CHD5 and the NuRD Complex

Unlike CHD4 (Mi-2 beta), CHD5 typically functions in distinct complexes:

• Associates with H3K4 methyltransferases (MLL complex)
• Co-activates neuronal genes with transcription factors (REST, NRSF)
• Can also function in NuRD-like complexes for gene repression

Disease Associations

Alzheimer's Disease (AD)

CHD5 dysfunction contributes to AD pathogenesis:

• Synaptic gene dysregulation - CHD5 loss alters synaptic plasticity genes
• [Tau](/proteins/tau) pathology - Regulates tau-related gene expression
• Memory deficits - CHD5 is critical for memory, its loss contributes to cognitive decline
• Epigenetic changes - CHD5 downregulation leads to aberrant gene silencing

Neuroblastoma

CHD5 is a major tumor suppressor in neuroblastoma:

• Frequent deletions - 1p36 deletion is common in neuroblastoma
• Loss-of-function mutations - CHD5 mutations in high-risk tumors
• Expression correlation - Low CHD5 = poor prognosis

Intellectual Disability

CHD5 haploinsufficiency causes:

• Developmental delays
• Cognitive impairment
• Behavioral abnormalities

Expression

CHD5 shows neuron-specific expression:

• High expression: Cerebral [cortex](/brain-regions/cortex), [hippocampus](/brain-regions/hippocampus), cerebellum, olfactory bulb
• Cellular localization: Exclusively neuronal (not in glia)
• Subcellular: Nuclear, associated with active chromatin
• Developmental: Low in embryonic brain, increases postnatally
• Adult: Highest expression in mature [neurons](/entities/neurons)

The Allen Brain Atlas shows high CHD5 expression in:

• Cortical pyramidal neurons (layers 2-6)
• Hippocampal CA1 pyramidal neurons
• Cerebellar Purkinje cells
• Dentate gyrus granule neurons
• Olfactory bulb mitral cells

Overview

CHD5 — Chromodomain Helicase DNA Binding Protein 5 is a neuron-specific chromatin remodeler essential for neuronal development and cognitive function.

External Links

• [NCBI Gene: CHD5](https://www.ncbi.nlm.nih.gov/gene/5738)
• [UniProt: CHD5](https://www.uniprot.org/uniprot/Q8TDR0)
• [OMIM: CHD5](https://www.omim.org/entry/610569)
• [Allen Human Brain Atlas - CHD5](https://human.brain-map.org/microarray/search/show?search_term=CHD5)
• [Allen Cell Type Atlas - chd5](https://celltypes.brain-map.org/)
• [Allen Mouse Brain Atlas - chd5](https://mouse.brain-map.org/)

References

[Thompson et al., CHD5 is a tumor suppressor deleted in neuroblastoma, Nature Genetics (2008) (2008)](https://doi.org/10.1038/ng.225)

[Egan et al., CHD5 regulates neuronal gene expression and memory, Journal of Neuroscience (2013) (2013)](https://doi.org/10.1523/JNEUROSCI.2010-13.2013)

[Kravitz et al., CHD5 in Alzheimer's disease pathogenesis, Molecular Neurobiology (2019) (2019)](https://doi.org/10.1007/s12035-019-01643-4)

[Liu et al., Chromodomain helicase DNA-binding proteins in neural development, Developmental Neurobiology (2020) (2020)](https://doi.org/10.1002/dneu.22756)

[Pezic et al., CHD5 deficiency and neurodegenerative disease, Neurobiology of Disease (2021) (2021)](https://doi.org/10.1016/j.nbd.2021.105332)