ELAVL2 Gene

ELAVL2 Gene

Overview

ELAVL2 Gene

Overview

<table class="infobox infobox-gene">
<tr>
<th class="infobox-header" colspan="2">ELAVL2 Gene</th>
</tr>
<tr>
<td class="label">Full Name</td>
<td>ELAV Like RNA Binding Protein 2</td>
</tr>
<tr>
<td class="label">Official Symbol</td>
<td>ELAVL2</td>
</tr>
<tr>
<td class="label">Gene ID</td>
<td>1993 (NCBI)</td>
</tr>
<tr>
<td class="label">Chromosomal Location</td>
<td>9p21.3</td>
</tr>
<tr>
<td class="label">Protein</td>
<td>HuB protein</td>
</tr>
<tr>
<td class="label">Protein Family</td>
<td>ELAVL (Embryonic Lethal, Abnormal Vision, Drosophila-like)</td>
</tr>
<tr>
<td class="label">Molecular Weight</td>
<td>~36-39 kDa</td>
</tr>
<tr>
<td class="label">Associated Diseases</td>
<td><a href="/wiki/als" style="color:#ef9a9a">ALS</a>, <a href="/wiki/aging" style="color:#ef9a9a">Aging</a>, <a href="/wiki/als" style="color:#ef9a9a">Als</a>, <a href="/wiki/ftd" style="color:#ef9a9a">Ftd</a>, <a href="/wiki/ms" style="color:#ef9a9a">Ms</a></td>
</tr>
<tr>
<td class="label">KG Connections</td>
<td><a href="/atlas" style="color:#4fc3f7">133 edges</a></td>
</tr>
</table>

ELAVL2 is a human gene whose product eLAVL2 is a member of the ELAVL family (ELAVL1-4) that is expressed specifically in [neurons](/entities/neurons) and primarily localizes to the cytoplasm. The protein contains multiple RNA recognition motifs (RRMs) that enable binding to specific sequences in target mRNAs. Variants in ELAVL2 have been implicated in Neurodegenerative Diseases, Alzheimer's Disease (AD), Parkinson's Disease (PD). This page covers the gene's normal function, disease associations, expression patterns, and key research findings relevant to neurodegeneration. [@tirucherai2020]

ELAVL2 (ELAV Like RNA Binding Protein 2) is a neuron-specific RNA-binding protein that plays critical roles in post-transcriptional gene regulation, neuronal development, and synaptic plasticity. Also known as HuB, this gene belongs to the ELAVL family of RNA-binding proteins that recognize AU-rich elements (AREs) in messenger RNA (mRNA) 3' untranslated regions (UTRs), thereby influencing RNA stability, localization, and translation. [@inoue2021]

Gene Overview

Function

ELAVL2 is a member of the ELAVL family (ELAVL1-4) that is expressed specifically in neurons and primarily localizes to the cytoplasm. The protein contains multiple RNA recognition motifs (RRMs) that enable binding to specific sequences in target mRNAs.

Post-Transcriptional Regulation

ELAVL2 regulates gene expression through several mechanisms:

Neuronal Expression Pattern

ELAVL2 is expressed specifically in neurons throughout the central nervous system, with high expression in:

• Cerebral [cortex](/brain-regions/cortex)
• [Hippocampus](/brain-regions/hippocampus) (particularly CA1 and CA3 regions)
• [Cerebellum](/brain-regions/cerebellum)
• Retina

Disease Associations

Neurodegenerative Diseases

While ELAVL2 is not classically associated with monogenic neurodegenerative disorders, emerging research suggests roles in several neurodegenerative conditions:

Alzheimer's Disease (AD)

RNA binding proteins including ELAVL2 have been implicated in AD pathogenesis through their effects on [tau](/proteins/tau) metabolism and [amyloid precursor protein](/entities/app-protein) (APP) processing. Dysregulation of post-transcriptional regulators may contribute to:

• Altered expression of tau-related genes
• Modulation of inflammatory response genes
• Effects on synaptic protein synthesis

Parkinson's Disease (PD)

ELAVL2 may influence PD through regulation of genes involved in:

• Mitochondrial function
• Protein homeostasis (proteostasis)
• [Alpha-synuclein](/proteins/alpha-synuclein) expression regulation

Amyotrophic Lateral Sclerosis (ALS)

Given the role of RNA metabolism in ALS, ELAVL2 dysfunction could contribute to:

• Alterations in [TDP-43](/mechanisms/tdp-43-proteinopathy) (TARDBP) target mRNA stability
• Dysregulation of survival motor neuron (SMN) splicing
• Impaired transport of neuronal mRNAs

Neurodevelopmental Disorders

Autism Spectrum Disorder (ASD)

ELAVL2 regulation of transcript expression is critical for neuronal function and has been clinically relevant to autism. Studies have identified ELAVL2 as a hub gene in neurodevelopmental disorders, with altered expression patterns in ASD brains.

Intellectual Disability

Given its essential role in neuronal development and synaptic function, ELAVL2 variants may contribute to intellectual disability phenotypes through:

• Disrupted synaptic plasticity
• Altered neuronal connectivity
• Impaired activity-dependent gene expression

Protein-Protein Interactions

ELAVL2 interacts with several key proteins involved in RNA metabolism and neuronal function:

• TIA1: T-cell intracellular antigen-1, involved in translational regulation
• TIA1L: TIA1-like protein
• HNRNPA1: Heterogeneous nuclear ribonucleoprotein A1
• SND1: Staphylococcal nuclease domain containing 1
• ELAVL1 (HuR): Paralog with overlapping target specificity

Expression in Neurodegeneration

In neurodegenerative contexts, ELAVL2 expression patterns may be altered:

Therapeutic Implications

ELAVL2 and other neuronal ELAVL proteins represent potential therapeutic targets for neurodegenerative diseases:

Research Tools

• Knockout Models: ELAVL2 knockout mice exhibit neurological phenotypes
• Cell Culture: Primary neuron cultures, iPSC-derived neurons
• CLIP-seq: Cross-linking immunoprecipitation to map RNA targets

See Also

• [Alzheimer's Disease](/diseases/alzheimers-disease)
• [Parkinson's Disease](/diseases/parkinsons-disease)

External Links

• [PubMed](https://pubmed.ncbi.nlm.nih.gov/)
• [KEGG Pathways](https://www.genome.jp/kegg/pathway.html)

Brain Atlas Resources

• [Allen Human Brain Atlas - ELAVL2 Expression](https://human.brain-map.org/microarray/search/show?search_term=ELAVL2) — Gene expression data across human brain regions
• [Allen Cell Type Atlas - ELAVL2](https://celltype.brain-map.org/) — Single-cell expression data
• [Allen Mouse Brain Atlas](https://mouse.brain-map.org/) — Mouse brain expression patterns
• [BrainSpan](https://www.brainspan.org/) — Developmental transcriptome data

References

Pathway Diagram

The following diagram shows the key molecular relationships involving ELAVL2 Gene discovered through SciDEX knowledge graph analysis: