SVIL Chromosome 10
Supervillin
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What This Gene Does
This gene encodes a bipartite protein with distinct amino- and carboxy-terminal domains. The amino-terminus contains nuclear localization signals and the carboxy-terminus contains numerous consecutive sequences with extensive similarity to proteins in the gelsolin family of actin-binding proteins, which cap, nucleate, and/or sever actin filaments. The gene product is tightly associated with both actin filaments and plasma membranes, suggesting a role as a high-affinity link between the actin cytoskeleton and the membrane. The encoded protein appears to aid in both myosin II assembly during cell spreading and disassembly of focal adhesions. Several transcript variants encoding different isoforms of supervillin have been described. [provided by RefSeq, Apr 2016]
Gene Info
Gene Group
"Gelsolin/villins|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
10p11.23
Ensembl
ENSG00000197321
Associated Conditions (3)
SVIL-related disorder
Abnormal brain morphology
Myofibrillar myopathy 10
Key Variants
RS143178190
Conflicting classifications of pathogenicity
Health Risk
RS61737058
Conflicting classifications of pathogenicity
SVIL-related disorder, SVIL-related disorder
Health Risk
RS779200901
Conflicting classifications of pathogenicity
Health Risk
RS2491788605
Likely pathogenic
Health Risk
RS369519072
Likely pathogenic
Health Risk
RS767673427
Likely pathogenic
Abnormal brain morphology, Abnormal brain morphology
Health Risk
RS1948690345
Pathogenic
Myofibrillar myopathy 10, Myofibrillar myopathy 10
Health Risk
RS753121062
Pathogenic
Myofibrillar myopathy 10, Myofibrillar myopathy 10
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS143178190 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS61737058 | Health Risk | Conflicting classifications of pathogenicity | SVIL-related disorder, SVIL-related disorder |
| RS779200901 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2491788605 | Health Risk | Likely pathogenic | — |
| RS369519072 | Health Risk | Likely pathogenic | — |
| RS767673427 | Health Risk | Likely pathogenic | Abnormal brain morphology, Abnormal brain morphology |
| RS1948690345 | Health Risk | Pathogenic | Myofibrillar myopathy 10, Myofibrillar myopathy 10 |
| RS753121062 | Health Risk | Pathogenic | Myofibrillar myopathy 10, Myofibrillar myopathy 10 |