MRTFA Chromosome 22
Myocardin related transcription factor A
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What This Gene Does
The protein encoded by this gene interacts with the transcription factor myocardin, a key regulator of smooth muscle cell differentiation. The encoded protein is predominantly nuclear and may help transduce signals from the cytoskeleton to the nucleus. This gene is involved in a specific translocation event that creates a fusion of this gene and the RNA-binding motif protein-15 gene. This translocation has been associated with acute megakaryocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
Gene Info
Gene Group
Myocardin family
Locus Type
gene with protein product
Location
22q13.1-q13.2
Ensembl
ENSG00000196588
Associated Conditions (3)
MRTFA-related disorder
Gastric cancer
Immunodeficiency 66
Key Variants
RS142647978
Conflicting classifications of pathogenicity
Health Risk
RS144872390
Conflicting classifications of pathogenicity
Health Risk
RS145316385
Conflicting classifications of pathogenicity
Health Risk
RS181447706
Conflicting classifications of pathogenicity
MRTFA-related disorder, MRTFA-related disorder
Health Risk
RS201542621
Conflicting classifications of pathogenicity
Health Risk
RS201944805
Conflicting classifications of pathogenicity
Health Risk
RS2147080815
Conflicting classifications of pathogenicity
Health Risk
RS34004854
Conflicting classifications of pathogenicity
Health Risk
RS372129489
Conflicting classifications of pathogenicity
Health Risk
RS373373014
Conflicting classifications of pathogenicity
Health Risk
RS556423980
Conflicting classifications of pathogenicity
Health Risk
RS72655384
Conflicting classifications of pathogenicity
Gastric cancer, Gastric cancer
Health Risk
All Variants (21)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS142647978 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS144872390 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS145316385 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS181447706 | Health Risk | Conflicting classifications of pathogenicity | MRTFA-related disorder, MRTFA-related disorder |
| RS201542621 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201944805 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2147080815 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS34004854 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS372129489 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS373373014 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS556423980 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS72655384 | Health Risk | Conflicting classifications of pathogenicity | Gastric cancer, Gastric cancer |
| RS761948522 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS767947292 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS770481742 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS774753571 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency 66, Immunodeficiency 66 |
| RS776466952 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS778638734 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS780789822 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS78093737 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2052705192 | Health Risk | Pathogenic | Immunodeficiency 66, Immunodeficiency 66 |