MATR3: Matrin 3 Gene
A nuclear matrix protein involved in RNA processing and linked to neurodegenerative diseases and cancer
Gene Information Card
| Symbol | MATR3 |
|---|---|
| Full Name | Matrin 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q31.2 |
| NCBI Gene ID | 9782 ncbi.nlm.nih.gov/gene/9782 |
| Ensembl ID | ENSG00000115464 |
| UniProt ID | P43243 |
| OMIM ID | 164015 |
| HGNC ID | 6912 |
| Aliases | MGC847, MGC13387, ALS21 |
Description
MATR3 encodes matrin 3, a nuclear matrix protein that binds to DNA and RNA, playing a critical role in nuclear architecture, RNA splicing, and gene expression regulation. Mutations in MATR3 are associated with amyotrophic lateral sclerosis (ALS) and distal myopathy, while altered expression is observed in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Amyotrophic lateral sclerosis 21 (ALS21) | Missense mutations (e.g., p.S85C, p.F115C) disrupt RNA binding and protein aggregation, leading to motor neuron degeneration. | ClinVar, OMIM |
| Distal myopathy with vocal cord weakness (MPD2) | Dominant mutations (e.g., p.S85C) impair nuclear localization and RNA processing, causing muscle weakness. | OMIM, ClinVar |
| Cancer (multiple types) | Overexpression or altered splicing of MATR3 promotes cell proliferation and invasion in breast, lung, and colorectal cancers. | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 38.2 | High |
| Heart | 32.1 | High |
| Brain (cerebellum) | 25.4 | Medium |
| Lung | 18.7 | Medium |
| Liver | 12.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 45.6 | Cervical cancer cell line |
| A549 | 38.9 | Lung carcinoma cell line |
| MCF7 | 42.1 | Breast cancer cell line |
| HEK293 | 30.2 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.254C>G (p.S85C) | Missense | Rare | Gain of toxic function; associated with ALS and distal myopathy |
| c.344T>G (p.F115C) | Missense | Rare | Disrupts RNA binding; linked to ALS |
| c.497G>A (p.R166H) | Missense | Rare | Unknown; reported in ALS cases |
Mutation functional classification
Loss of Function (LOF)
Not clearly established; most mutations are missense and may not cause complete loss.
Gain of Function (GOF)
p.S85C and p.F115C are proposed to confer toxic gain-of-function via aggregation.
Dominant Negative (DN)
Possible for p.S85C, as mutant protein may interfere with wild-type matrin 3 function.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding (GO:0003723) | • DNA binding (GO:0003677) |
| • nuclear matrix (GO:0016363) | • via spliceosome (GO:0000398) |
| • DNA-templated (GO:0006355) |
Pathways
• mRNA Splicing - Major Pathway
• Processing of Capped Intron-Containing Pre-mRNA
Protein Summary
Matrin 3 is a 847-amino acid nuclear matrix protein with two RNA recognition motifs (RRMs) and a zinc finger domain. It binds both DNA and RNA, facilitating nuclear scaffold organization, pre-mRNA splicing, and transcriptional regulation. The protein is ubiquitously expressed, with highest levels in skeletal muscle and heart. Pathogenic mutations cluster in the RRM domains, leading to aberrant RNA processing and aggregation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MATR3 Knockout HEK293 Cell Line | EDJ-KQ50906 | Human | 9782 | Details Get a Quote |
| MATR3 Knockout HeLa Cell Line | EDJ-KQ55255 | Human | 9782 | Details Get a Quote |
| MATR3 Knockout A-549 Cell Line | EDJ-KQ63732 | Human | 9782 | Details Get a Quote |
| MATR3 Knockout HCT 116 Cell Line | EDJ-KQ72191 | Human | 9782 | Details Get a Quote |
