MATR3 Gene

Migration, Crosslink

📖

MATR3 Gene

active

wiki page Created: 2026-04-02T07:19:20 By: crosslink-migration Quality: 50% ✓ SciDEX ID: wiki-genes-matrin3

📖 Wiki Page

gene820 wordssynced 2026-04-02

MATR3 (Matrin-3)

<table class="infobox infobox-gene">
<tr>
<th class="infobox-header" colspan="2">MATR3 Gene</th>
</tr>
<tr>
<td class="label">Gene Symbol</td>
<td>MATR3</td>
</tr>
<tr>
<td class="label">Full Name</td>
<td>Matrin 3</td>
</tr>
<tr>
<td class="label">Aliases</td>
<td>MATA3, ATMR1</td>
</tr>
<tr>
<td class="label">Chromosomal Location</td>
<td>5q31.2</td>
</tr>
<tr>
<td class="label">NCBI Gene ID</td>
<td>9782</td>
</tr>
<tr>
<td class="label">Ensembl ID</td>
<td>ENSG00000015479</td>
</tr>
<tr>
<td class="label">UniProt ID</td>
<td>P43243</td>
</tr>
<tr>
<td class="label">KG Connections</td>
<td><a href="/atlas" style="color:#4fc3f7">1 edges</a></td>
</tr>
</table>

Introduction

Matr3 Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.

Overview

...

MATR3 (Matrin-3)

<table class="infobox infobox-gene">
<tr>
<th class="infobox-header" colspan="2">MATR3 Gene</th>
</tr>
<tr>
<td class="label">Gene Symbol</td>
<td>MATR3</td>
</tr>
<tr>
<td class="label">Full Name</td>
<td>Matrin 3</td>
</tr>
<tr>
<td class="label">Aliases</td>
<td>MATA3, ATMR1</td>
</tr>
<tr>
<td class="label">Chromosomal Location</td>
<td>5q31.2</td>
</tr>
<tr>
<td class="label">NCBI Gene ID</td>
<td>9782</td>
</tr>
<tr>
<td class="label">Ensembl ID</td>
<td>ENSG00000015479</td>
</tr>
<tr>
<td class="label">UniProt ID</td>
<td>P43243</td>
</tr>
<tr>
<td class="label">KG Connections</td>
<td><a href="/atlas" style="color:#4fc3f7">1 edges</a></td>
</tr>
</table>

Introduction

Matr3 Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.

Overview

Mermaid diagram (expand to render)

MATR3 (Matrin-3) is a nuclear matrix protein involved in RNA processing and gene expression regulation. Mutations in MATR3 cause familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). [@leblond2016]

Gene Information

Protein Structure

Matrin-3 is a nuclear protein (~847 amino acids) containing:

Two RNA recognition motifs (RRM)
Multiple glycine-rich domains
NLS (nuclear localization signal)
PEST sequences (protein degradation signals)

Normal Function

MATR3 plays critical roles in:

Nuclear Matrix Organization: Maintains nuclear architecture

RNA Processing: Involved in splicing and RNA stability

Gene Transcription: Regulates gene expression

DNA Repair: Contributes to DNA damage response

Disease Associations

Amyotrophic Lateral Sclerosis (ALS)

MATR3 mutations (e.g., P154S, S85C) cause familial ALS
Mutations lead to:
RNA processing dysfunction
[TDP-43](/proteins/tdp-43) mislocalization
Stress granule formation
Neuronal [apoptosis](/entities/apoptosis)
Autosomal dominant inheritance

Frontotemporal Dementia (FTD)

Some MATR3 mutations cause FTD phenotype
Overlap with ALS-FTD spectrum

Other Associations

Ribosomopathy (e.g., X-linked chondrodysplasia)
Vocal cord dysfunction

Expression Pattern

High expression in:

Motor [neurons](/entities/neurons) (vulnerable in ALS)
Brain ([cortex](/brain-regions/cortex), hippocampus)
Spinal cord
Muscle

Therapeutic Implications

Targeting RNA processing pathways
Modulating stress granule dynamics
Gene therapy approaches

Expression Pattern

MATR3 is ubiquitously expressed with high levels in:

[Brain*: Cerebral cortex, [hippocampus](/brain-regions/hippocampus), cerebellum, brainstem](/brain-regions/brainstem)
[Spinal cord*: Motor neurons in ventral horn](/brain-regions/spinal-cord)
[Muscle*: Skeletal muscle fibers](/institutions/usc)
[Other tissues*: Heart, kidney, liver](/genes/ar)

Within neurons, MATR3 localizes to:

[Nuclear matrix](/institutions/ucl)
[Nucleoplasm](/institutions/ucl)
[Nuclear speckles (splicing factor storage)](/institutions/ucl)

Molecular Mechanisms in Disease

RNA Processing Dysregulation

MATR3 mutations lead to:

[Aberrant splicing of target genes](/genes)
[Altered mRNA stability](/mechanisms/rna-stability)
[Disrupted transcription regulation](/genes/ran)
[Nuclear export defects](/institutions/ucl)

TDP-43 Pathology

[MATR3 interacts with [TDP-43](/mechanisms/tdp-43-proteinopathy) (TARDBP)](/mechanisms)
[Mutations disrupt this interaction](/genes/th)
Leads to TDP-43 mislocalization
Cytoplasmic aggregation in ALS/FTD

Stress Granule Dynamics

MATR3 localizes to stress granules
Mutations alter granule formation
Contributes to translational arrest
Promotes neuronal death

Therapeutic Approaches

Gene Therapy Strategies

Antisense oligonucleotides (ASOs): Target mutant MATR3 transcripts
RNAi: Knockdown of toxic alleles
CRISPR/Cas9: Allele-specific editing

Small Molecule Approaches

MicroRNA modulators: Restore proper RNA processing
Nuclear export inhibitors: Prevent cytoplasmic TDP-43
Protein aggregation inhibitors: Block TDP-43 aggregation

Research Directions

iPSC-derived motor neurons from MATR3-ALS patients
Biomarker development for disease progression
Understanding genotype-phenotype correlations

Animal Models

Mouse Models

Transgenic mice expressing mutant MATR3
Knock-in models with patient mutations
Phenotype: motor dysfunction, TDP-43 pathology

Drosophila Models

MATR3 RNAi knock-down
Mutant MATR3 overexpression
Phenotype: locomotion defects, neurodegeneration

Key Publications

[@johnson2014] Johnson JO, Pioro EP, Boehringer A, et al. (2014). Mutations in the MATR3 gene cause familial amyotrophic lateral sclerosis. Nat Neurosci. 17(5):664-666. PMID: 24657983(https://pubmed.ncbi.nlm.nih.gov/24657983/)

[@leblond2016] Leblond CS, Gan-Or Z, Spiegelman D, et al. (2016). Replication study of MATR3 in familial and sporadic ALS. Neurology. 86(1):44-49. PMID: 26567056(https://pubmed.ncbi.nlm.nih.gov/26567056/)

[@giordano2019] Giordano G, Lam M, Jorgensen L, et al. (2019). Matrin-3 mutation causes early post-natal motor neuron disease. Neurobiol Dis. 130:104554. PMID: 31229679(https://pubmed.ncbi.nlm.nih.gov/31229679/)

[@tada2018] Tada M, Doi H, Kondo Y, et al. (2018). Matrin-3 aggregation is mediated by p62/SQSTM1. J Neurol Sci. 387:1-7. PMID: 29525471(https://pubmed.ncbi.nlm.nih.gov/29525471/)

[@zhang2021] Zhang W, Li L, Wang Z, et al. (2021). MATR3 modulates ALS pathology via TDP-43 proteinopathy. Acta Neuropathol Commun. 9(1):94. PMID: 34099075(https://pubmed.ncbi.nlm.nih.gov/34099075/)

External Links

[NCBI Gene: MATR3](https://www.ncbi.nlm.nih.gov/gene/9782)
[UniProt: MATR3](https://www.uniprot.org/uniprot/P43243)
[OMIM: MATR3](https://www.omim.org/entry/604334)
[ALS Online Genetics Database: MATR3](https://alsod.iop.kcl.ac.uk/)

Background

The study of Matr3 Gene 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.

Brain Atlas Resources

Allen Human Brain Atlas: [Gene expression search](https://human.brain-map.org/microarray/search/show?search_term=MATRIN3)
Allen Mouse Brain Atlas: [Gene search](https://mouse.brain-map.org/search/index.html?query=MATRIN3)
Allen Cell Type Atlas: [Transcriptomic cell type reference](https://portal.brain-map.org/atlases-and-data/rnaseq)
BrainSpan Developmental Transcriptome: [Developmental expression](https://www.brainspan.org/rnaseq/search/index.html?search_term=MATRIN3)

References

[Johnson JO, Pioro EP, Boehringer A, et al, (2014) (2014)](https://pubmed.ncbi.nlm.nih.gov/24657983/)

[Leblond CS, Gan-Or Z, Spiegelman D, et al, (2016) (2016)](https://pubmed.ncbi.nlm.nih.gov/26567056/)

[Giordano G, Lam M, Jorgensen L, et al, (2019) (2019)](https://pubmed.ncbi.nlm.nih.gov/31229679/)

[Tada M, Doi H, Kondo Y, et al, (2018) (2018)](https://pubmed.ncbi.nlm.nih.gov/29525471/)

[Zhang W, Li L, Wang Z, et al, (2021) (2021)](https://pubmed.ncbi.nlm.nih.gov/34099075/)

Pathway Diagram

The following diagram shows the key molecular relationships involving MATR3 Gene discovered through SciDEX knowledge graph analysis:

Mermaid diagram (expand to render)

📖 View canonical wiki page →

Related Entities

MATRIN3

▸Metadataorigin_type: v1_polymorphic_backfill

slug	genes-matrin3
kg_node_id	MATRIN3
entity_type	gene
origin_type	v1_polymorphic_backfill
source_table	wiki_pages
wiki_page_id	wp-92605a897d6b
__merged_from	{'merged_at': '2026-05-13', 'unprefixed_id': 'genes-matrin3'}
_schema_version	1

📊 Evidence Profile

Evidence Balance

+0%

Certainty

30%

Debates

0

Incoming

6

Outgoing

11

0 supporting 0 contradicting 0 neutral

View full evidence profile →

Public annotations (0)Annotate on Hypothes.is →

No public annotations yet.

📗 Cite This Artifact

MATR3 Gene

MATR3 (Matrin-3)

Introduction

Overview

MATR3 (Matrin-3)

Introduction

Overview

Gene Information

Protein Structure

Normal Function

Disease Associations

Amyotrophic Lateral Sclerosis (ALS)

Frontotemporal Dementia (FTD)

Other Associations

Expression Pattern

Therapeutic Implications

See Also

Expression Pattern

Molecular Mechanisms in Disease

RNA Processing Dysregulation

TDP-43 Pathology

Stress Granule Dynamics

Therapeutic Approaches

Gene Therapy Strategies

Small Molecule Approaches

Research Directions

Animal Models

Mouse Models

Drosophila Models

Key Publications

See Also

External Links

Background

Brain Atlas Resources

References

Pathway Diagram

💬 Discussion