MATR3 Chromosome 5
Matrin 3
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What This Gene Does
This gene encodes a nuclear matrix protein, which is proposed to stabilize certain messenger RNA species. Mutations of this gene are associated with distal myopathy 2, which often includes vocal cord and pharyngeal weakness. Alternatively spliced transcript variants, including read-through transcripts composed of the upstream small nucleolar RNA host gene 4 (non-protein coding) and matrin 3 gene sequence, have been identified. Pseudogenes of this gene are located on chromosomes 1 and X. [provided by RefSeq, Aug 2013]
Gene Info
Gene Group
"Zinc fingers matrin-type|Small nucleolar RNA protein coding host genes"
Locus Type
gene with protein product
Location
5q31.2
Ensembl
ENSG00000015479
Associated Conditions (3)
Amyotrophic lateral sclerosis type 21
MATR3-related disorder
Inborn genetic diseases
Key Variants
RS139589527
Conflicting classifications of pathogenicity
Amyotrophic lateral sclerosis type 21, Amyotrophic lateral sclerosis type 21
Health Risk
RS199711502
Conflicting classifications of pathogenicity
Amyotrophic lateral sclerosis type 21, Amyotrophic lateral sclerosis type 21
Health Risk
RS201075828
Conflicting classifications of pathogenicity
Amyotrophic lateral sclerosis type 21, MATR3-related disorder, Amyotrophic lateral sclerosis type 21
Health Risk
RS201165929
Conflicting classifications of pathogenicity
Amyotrophic lateral sclerosis type 21, MATR3-related disorder, Amyotrophic lateral sclerosis type 21
Health Risk
RS201970174
Conflicting classifications of pathogenicity
Amyotrophic lateral sclerosis type 21, MATR3-related disorder, Amyotrophic lateral sclerosis type 21
Health Risk
RS2546755417
Conflicting classifications of pathogenicity
Amyotrophic lateral sclerosis type 21, Amyotrophic lateral sclerosis type 21
Health Risk
RS368217486
Conflicting classifications of pathogenicity
Amyotrophic lateral sclerosis type 21, Inborn genetic diseases, Amyotrophic lateral sclerosis type 21
Health Risk
RS557085910
Conflicting classifications of pathogenicity
Amyotrophic lateral sclerosis type 21, Amyotrophic lateral sclerosis type 21
Health Risk
RS568895329
Conflicting classifications of pathogenicity
Amyotrophic lateral sclerosis type 21, Amyotrophic lateral sclerosis type 21
Health Risk
RS772231433
Conflicting classifications of pathogenicity
Amyotrophic lateral sclerosis type 21, Inborn genetic diseases, Amyotrophic lateral sclerosis type 21
Health Risk
RS774158046
Conflicting classifications of pathogenicity
Amyotrophic lateral sclerosis type 21, MATR3-related disorder, Amyotrophic lateral sclerosis type 21
Health Risk
RS886059990
Conflicting classifications of pathogenicity
Amyotrophic lateral sclerosis type 21, Amyotrophic lateral sclerosis type 21
Health Risk
All Variants (13)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139589527 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic lateral sclerosis type 21, Amyotrophic lateral sclerosis type 21 |
| RS199711502 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic lateral sclerosis type 21, Amyotrophic lateral sclerosis type 21 |
| RS201075828 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic lateral sclerosis type 21, MATR3-related disorder, Amyotrophic lateral sclerosis type 21 |
| RS201165929 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic lateral sclerosis type 21, MATR3-related disorder, Amyotrophic lateral sclerosis type 21 |
| RS201970174 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic lateral sclerosis type 21, MATR3-related disorder, Amyotrophic lateral sclerosis type 21 |
| RS2546755417 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic lateral sclerosis type 21, Amyotrophic lateral sclerosis type 21 |
| RS368217486 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic lateral sclerosis type 21, Inborn genetic diseases, Amyotrophic lateral sclerosis type 21 |
| RS557085910 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic lateral sclerosis type 21, Amyotrophic lateral sclerosis type 21 |
| RS568895329 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic lateral sclerosis type 21, Amyotrophic lateral sclerosis type 21 |
| RS772231433 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic lateral sclerosis type 21, Inborn genetic diseases, Amyotrophic lateral sclerosis type 21 |
| RS774158046 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic lateral sclerosis type 21, MATR3-related disorder, Amyotrophic lateral sclerosis type 21 |
| RS886059990 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic lateral sclerosis type 21, Amyotrophic lateral sclerosis type 21 |
| RS121434591 | Health Risk | Pathogenic | Amyotrophic lateral sclerosis type 21, Amyotrophic lateral sclerosis type 21 |