MYO1E Chromosome 15
Myosin IE
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What This Gene Does
This gene encodes a member of the nonmuscle class I myosins which are a subgroup of the unconventional myosin protein family. The unconventional myosin proteins function as actin-based molecular motors. Class I myosins are characterized by a head (motor) domain, a regulatory domain and a either a short or long tail domain. Among the class I myosins, this protein is distinguished by a long tail domain that is involved in crosslinking actin filaments. This protein localizes to the cytoplasm and may be involved in intracellular movement and membrane trafficking. Mutations in this gene are the cause of focal segmental glomerulosclerosis-6. This gene has been referred to as myosin IC in the literature but is distinct from the myosin IC gene located on chromosome 17. [provided by RefSeq, Jan 2012]
Gene Info
Gene Group
"Myosin heavy chains, class I|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
15q22.2
Ensembl
ENSG00000157483
Associated Conditions (8)
Corticosteroids response
MYO1E-related disorder
Microscopic hematuria
Kidney disorder
Focal segmental glomerulosclerosis 6
Inborn genetic diseases
Uterine corpus endometrial carcinoma
Nephrotic syndrome
Key Variants
RS1300127405
drug response
Corticosteroids response, Corticosteroids response
Drug Response
RS1471326207
drug response
Corticosteroids response, Corticosteroids response
Drug Response
RS2079547372
drug response
Corticosteroids response, Corticosteroids response
Drug Response
RS2080293604
drug response
Corticosteroids response, Corticosteroids response
Drug Response
RS2140311711
drug response
Corticosteroids response, Corticosteroids response
Drug Response
RS2140330159
drug response
Corticosteroids response, Corticosteroids response
Drug Response
RS2140352466
drug response
Corticosteroids response, Corticosteroids response
Drug Response
RS2140382260
drug response
Corticosteroids response, Corticosteroids response
Drug Response
RS758689659
drug response
Corticosteroids response, Corticosteroids response
Drug Response
RS766032411
drug response
Corticosteroids response, Corticosteroids response
Drug Response
RS767828946
drug response
Corticosteroids response, Corticosteroids response
Drug Response
RS113544635
Conflicting classifications of pathogenicity
MYO1E-related disorder, MYO1E-related disorder
Health Risk
All Variants (43)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1300127405 | Drug Response | drug response | Corticosteroids response, Corticosteroids response |
| RS1471326207 | Drug Response | drug response | Corticosteroids response, Corticosteroids response |
| RS2079547372 | Drug Response | drug response | Corticosteroids response, Corticosteroids response |
| RS2080293604 | Drug Response | drug response | Corticosteroids response, Corticosteroids response |
| RS2140311711 | Drug Response | drug response | Corticosteroids response, Corticosteroids response |
| RS2140330159 | Drug Response | drug response | Corticosteroids response, Corticosteroids response |
| RS2140352466 | Drug Response | drug response | Corticosteroids response, Corticosteroids response |
| RS2140382260 | Drug Response | drug response | Corticosteroids response, Corticosteroids response |
| RS758689659 | Drug Response | drug response | Corticosteroids response, Corticosteroids response |
| RS766032411 | Drug Response | drug response | Corticosteroids response, Corticosteroids response |
| RS767828946 | Drug Response | drug response | Corticosteroids response, Corticosteroids response |
| RS113544635 | Health Risk | Conflicting classifications of pathogenicity | MYO1E-related disorder, MYO1E-related disorder |
| RS139049058 | Health Risk | Conflicting classifications of pathogenicity | MYO1E-related disorder, MYO1E-related disorder |
| RS140447165 | Health Risk | Conflicting classifications of pathogenicity | Microscopic hematuria, Kidney disorder, Microscopic hematuria |
| RS1429635931 | Health Risk | Conflicting classifications of pathogenicity | Focal segmental glomerulosclerosis 6, Focal segmental glomerulosclerosis 6 |
| RS147596471 | Health Risk | Conflicting classifications of pathogenicity | Focal segmental glomerulosclerosis 6, MYO1E-related disorder, Focal segmental glomerulosclerosis 6 |
| RS150397493 | Health Risk | Conflicting classifications of pathogenicity | MYO1E-related disorder, Focal segmental glomerulosclerosis 6, MYO1E-related disorder |
| RS150983259 | Health Risk | Conflicting classifications of pathogenicity | MYO1E-related disorder, MYO1E-related disorder |
| RS180951130 | Health Risk | Conflicting classifications of pathogenicity | Focal segmental glomerulosclerosis 6, Focal segmental glomerulosclerosis 6 |
| RS188248622 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Focal segmental glomerulosclerosis 6, Inborn genetic diseases |
| RS200066836 | Health Risk | Conflicting classifications of pathogenicity | MYO1E-related disorder, Focal segmental glomerulosclerosis 6, MYO1E-related disorder |
| RS202237883 | Health Risk | Conflicting classifications of pathogenicity | Focal segmental glomerulosclerosis 6, Focal segmental glomerulosclerosis 6 |
| RS369511429 | Health Risk | Conflicting classifications of pathogenicity | Focal segmental glomerulosclerosis 6, Focal segmental glomerulosclerosis 6 |
| RS369851959 | Health Risk | Conflicting classifications of pathogenicity | Focal segmental glomerulosclerosis 6, Focal segmental glomerulosclerosis 6 |
| RS370209627 | Health Risk | Conflicting classifications of pathogenicity | Focal segmental glomerulosclerosis 6, Inborn genetic diseases, Focal segmental glomerulosclerosis 6 |
| RS372477809 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS373648216 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS4508371 | Health Risk | Conflicting classifications of pathogenicity | Focal segmental glomerulosclerosis 6, Focal segmental glomerulosclerosis 6 |
| RS564899884 | Health Risk | Conflicting classifications of pathogenicity | MYO1E-related disorder, Focal segmental glomerulosclerosis 6, MYO1E-related disorder |
| RS1555411458 | Health Risk | Likely pathogenic | — |
| RS1596351849 | Health Risk | Likely pathogenic | Focal segmental glomerulosclerosis 6, Focal segmental glomerulosclerosis 6 |
| RS200956105 | Health Risk | Likely pathogenic | Uterine corpus endometrial carcinoma, Uterine corpus endometrial carcinoma |
| RS2079386835 | Health Risk | Likely pathogenic | Nephrotic syndrome, Nephrotic syndrome |
| RS2140319931 | Health Risk | Likely pathogenic | Nephrotic syndrome, Nephrotic syndrome |
| RS2140342702 | Health Risk | Likely pathogenic | Nephrotic syndrome, Nephrotic syndrome |
| RS781347673 | Health Risk | Likely pathogenic | Nephrotic syndrome, Nephrotic syndrome |
| RS1344931713 | Health Risk | Pathogenic | — |
| RS1427276872 | Health Risk | Pathogenic | Focal segmental glomerulosclerosis 6, Focal segmental glomerulosclerosis 6 |
| RS2079495070 | Health Risk | Pathogenic | Focal segmental glomerulosclerosis 6, Focal segmental glomerulosclerosis 6 |
| RS2542089584 | Health Risk | Pathogenic | — |
| RS2542174867 | Health Risk | Pathogenic | Focal segmental glomerulosclerosis 6, Focal segmental glomerulosclerosis 6 |
| RS387906807 | Health Risk | Pathogenic | Focal segmental glomerulosclerosis 6, Focal segmental glomerulosclerosis 6 |
| RS778868018 | Health Risk | Pathogenic | Focal segmental glomerulosclerosis 6, Focal segmental glomerulosclerosis 6 |