SVIL - supervillin Gene

Homo sapiens

Also known as MFM10

Gene ID: 6840 | Gene type: protein coding

About SVIL

Cytogenetic location: 10p11.23 Genomic coordinates (GRCh38): 10:29,457,338-29,736,936 (from NCBI)

This gene has 16 transcripts (splice variants), 284 orthologues, 7 paralogues and is associated with 1 phenotype. Broad expression in heart (RPKM 40.9), esophagus (RPKM 29.0) and 21 other tissues.

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. [provided by RefSeq, Apr 2016]

SVIL Products(4)

mRNA	Protein	Name
NM_001323599.2	NP_001310528.1	supervillin isoform 3
NM_001323600.1	NP_001310529.1	supervillin isoform 4
NM_003174.3	NP_003165.2	supervillin isoform 1
NM_021738.3	NP_068506.2	supervillin isoform 2

SVIL Protein Structure

Gelsolin

VHP

0
400
800
1200
1600
2000
2214 a.a.

Protein Preferred Names

Protein Names

supervillin

archvillin

Related Diseases

Diseases

Alias

Myofibrillar Myopathy 10

MFM10

Myopathy, Myofibrillar, 10

Myofibrillar Myopathy

Desmin Related Myopathy	Myotilinopathy
Myopathy, Myofibrillar	Alpha Beta Crystallinopathy
Desmin Storage Myopathy	Desminopathy
Filaminopathy	Protein Surplus Myopathy
Zaspopathy	Myofibrillar Myopathies
Myopathy, Myofibrillar, Desmin-Related	Myopathy, Desmin Storage
Mfm - [Myofibrillar Myopathy]

Myopathy

Muscular Diseases

Myopathies

Frontometaphyseal Dysplasia

Fmd	Dysplasia, Frontometaphyseal

Scoliosis

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14059	SVIL Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	SVIL	VGNC	VGNC:65864
Bos taurus	SVIL	VGNC	VGNC:103722
Canis familiaris	SVIL	VGNC	VGNC:47007
Mus musculus	SVIL	MGD	MGI:2147319
Rattus norvegicus	SVIL	RGD	RGD:1306354