Gene: SVIL

Alternate names for this Gene: MFM10

Gene Summary: 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.

Gene is located in Chromosome: 10

Location in Chromosome : 10p11.23

Description of this Gene: supervillin

Type of Gene: protein-coding

rs6481598 in SVIL gene and Glomerular Filtration Rate PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.

rs1247423 in SVIL gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

rs12775980 in SVIL gene and Osteoporosis PMID 28580392 2016 A genome-wide association study meta-analysis of clinical fracture in 10,012 African American women.

rs75690380 in SVIL gene and response to aromatase inhibitor PMID 30648747 2019 Anastrozole Aromatase Inhibitor Plasma Drug Concentration Genome-Wide Association Study: Functional Epistatic Interaction Between SLC38A7 and ALPPL2.