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27 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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MATR3
matrin 3
Chromosome 5 · 5q31.2
NCBI Gene: 9782Ensembl: ENSG00000015479.20HGNC: HGNC:6912UniProt: A0A0R4J2E8
396PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
RESEARCH IMPACT
Highly StudiedTrending
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
miRNA bindingidentical protein bindingmembraneRNA bindingamyotrophic lateral sclerosisdistal myopathy with vocal cord weaknessneurodegenerative diseasedistal myopathy
✦AI Summary

MATR3 (matrin 3) is a nuclear matrix protein that serves multiple regulatory functions in gene expression and cellular homeostasis. The protein plays critical roles in RNA metabolism, including binding to N6-methyladenosine (m6A)-containing mRNAs and contributing to mRNA stability 1. MATR3 functions as a splicing regulator, with its proper expression being essential for maintaining nuclear architecture and chr5 accessibility 2. The protein also participates in DNA damage response pathways and interacts with RNA processing machinery, including components like GANP in the TREX-2 complex 3. Disease-associated mutations in MATR3, particularly the p.Ser85Cys variant, cause autosomal dominant distal myopathy characterized by progressive muscle weakness in hands and feet, often accompanied by rimmed vacuoles on muscle biopsy 45. MATR3 mutations are also associated with amyotrophic lateral sclerosis (ALS), contributing to the growing list of genes implicated in motor neuron degeneration 67. In cancer contexts, MATR3 promotes tumor progression by suppressing type I interferon signaling through m6A-mediated mRNA degradation, particularly affecting DHX58 expression and subsequent immune responses 1. The protein's diverse functions underscore its importance in maintaining cellular integrity and its pathogenic role when disrupted.

Sources cited
1
MATR3 binds to m6A-containing mRNAs, promotes liver cancer progression by suppressing DHX58-mediated type I interferon response
PMID: 39276912
2
MATR3 functions as a splicing regulator and maintains nuclear architecture and chromatin accessibility
PMID: 40610464
3
MATR3 interacts with RNA processing machinery including GANP in the TREX-2 complex and protects against replication stress
PMID: 34168151
4
p.Ser85Cys MATR3 mutation causes autosomal dominant distal myopathy with muscle weakness and rimmed vacuoles
PMID: 40447473
5
MATR3 is associated with autosomal dominant distal myopathy
PMID: 33458580
6
MATR3 is one of seven novel genes associated with amyotrophic lateral sclerosis
PMID: 29154141
7
MATR3 mutations are linked to ALS and the protein plays roles in gene regulation at multiple levels
PMID: 38891112
Disease Associationsⓘ21
amyotrophic lateral sclerosisOpen Targets
0.75Strong
distal myopathy with vocal cord weaknessOpen Targets
0.57Moderate
neurodegenerative diseaseOpen Targets
0.53Moderate
distal myopathyOpen Targets
0.41Moderate
genetic disorderOpen Targets
0.19Weak
NeurodegenerationOpen Targets
0.12Weak
breast cancerOpen Targets
0.08Suggestive
HeterotaxiaOpen Targets
0.07Suggestive
metabolic syndromeOpen Targets
0.07Suggestive
Aortic CoarctationOpen Targets
0.07Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.07Suggestive
congenital heart diseaseOpen Targets
0.07Suggestive
Congenitally uncorrected transposition of the great arteriesOpen Targets
0.07Suggestive
congenital unilateral hypoplasia of depressor anguli orisOpen Targets
0.07Suggestive
Fallot complex - intellectual disability - growth delayOpen Targets
0.07Suggestive
fallot complex-intellectual disability-growth delay syndromeOpen Targets
0.07Suggestive
congenital heart defects, multiple types, 4Open Targets
0.06Suggestive
congenital left-sided heart lesionsOpen Targets
0.06Suggestive
Patent ductus arteriosus - bicuspid aortic valve - hand anomaliesOpen Targets
0.06Suggestive
patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndromeOpen Targets
0.06Suggestive
Amyotrophic lateral sclerosis 21UniProt
Pathogenic Variants1
NM_018834.6(MATR3):c.254C>G (p.Ser85Cys)Pathogenic
Amyotrophic lateral sclerosis type 21|not provided
★★☆☆2026→ Residue 85
View on ClinVar ↗
Related Genes
ATXN2Protein interaction100%TIA1Protein interaction100%IGF2BP1Protein interaction98%HNRNPA3Protein interaction97%UBQLN2Protein interaction97%VCPProtein interaction96%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
59%
Lung
26%
Brain
24%
Liver
21%
Heart
13%
Gene Interaction Network
Click a node to explore
MATR3ATXN2TIA1IGF2BP1HNRNPA3UBQLN2VCP
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt P43243
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.12Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.05 [0.03–0.12]
RankingsWhere MATR3 stands among ~20K protein-coding genes
  • #745of 20,598
    Most Researched396 · top 5%
  • #4,642of 5,498
    Most Pathogenic Variants1
  • #113of 17,882
    Most Constrained (LOEUF)0.12 · top 1%
Genes detectedMATR3
Sources retrieved27 papers
Response time—
📄 Sources
27▼
1
Panorama of the distal myopathies.
PMID: 33458580
Acta Myol · 2020
1.00
2
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
PMID: 34602496
J Neuromuscul Dis · 2022
0.90
3
MATR3 promotes liver cancer progression by suppressing DHX58-mediated type I interferon response.
PMID: 39276912
Cancer Lett · 2024
0.80
4
Matrin3 mediates differentiation through stabilizing chromatin loop-domain interactions and YY1 mediated enhancer-promoter interactions.
PMID: 38341433
Nat Commun · 2024
0.76
5
Nuclear retention of unspliced HIV-1 RNA as a reversible post-transcriptional block in latency.
PMID: 40021667
Nat Commun · 2025
0.72