MYO1E Chromosome 15

Myosin IE
43 variants 11 Drug Response 32 Health Risk

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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
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
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