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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SVIL Gene

protein-coding   GIFtS: 59
GCID: GC10M029786

supervillin
 Explore 7 diseases affiliated with
SVIL via
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Biological research products
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Aliases
for SVIL gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Supervillin1
P205/P2501
Archvillin3
Membrane-Associated F-Actin Binding Protein P2052
Archvillin3

External Ids:    HGNC: 114801   Entrez Gene: 68402   Ensembl: ENSG000001973217   OMIM: 6041265   UniProtKB: O954253   

Export aliases for SVIL gene to outside databases

Previous GC identifers: GC10M029481 GC10M029896 GC10M029750


Summaries
for SVIL gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for SVIL:
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. Two transcript variants encoding
different isoforms of supervillin have been described. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: SVIL_HUMAN, O95425
Function: Forms a high-affinity link between the actin cytoskeleton and the membrane. Isoform 1 (archvillin) is among
the first costameric proteins to assemble during myogenesis and it contributes to myogenic membrane structure and
differentiation. Appears to be involved in myosin II assembly. May modulate myosin II regulation through MLCK during
cell spreading, an initial step in cell migration. May play a role in invadopodial function. Isoform 2 may be involved
in modulation of focal adhesions. Supervillin-mediated down-regulation of focal adehesions involves binding to TRIP6
(By similarity)

Gene Wiki entry for SVIL


Genomic Views
for SVIL gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NC_018921.1  NT_008705.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SVIL gene promoter:
         E2F-4   E2F-3a   E2F-5   FOXD3   Olf-1   E2F-2   E2F   E2F-1   Nkx3-1 v3   Msx-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): SVIL promoter sequence
   Search SABiosciences Chromatin IP Primers for SVIL

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SVIL


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10p11.2   Ensembl cytogenetic band:  10p11.23   HGNC cytogenetic band: 10p11.2

SVIL Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SVIL gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M029786:  view genomic region     (about GC identifiers)

Start:
 29,746,267 bp from pter      End:
 30,025,710 bp from pter
Size:
 279,444 bases      Orientation:
 minus strand

Proteins
for SVIL gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: SVIL_HUMAN, O95425 (See protein sequence)
Recommended Name: Supervillin  
Size: 2214 amino acids; 247746 Da
Subunit: Associates with F-actin. Interacts with NEB. Interacts with MYH9. Interacts with MYLK. Isoform 2 interacts
with TRIP6. Isoform 2 interacts with DYNLT1 (By similarity)
Subcellular location: Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cytoskeleton. Cell
projection, invadopodium. Cell projection, podosome. Note=Tightly associated with both actin filaments and plasma
membranes
2 PDB 3D structures from and Proteopedia for SVIL:
2K6M (3D)        2K6N (3D)    
Secondary accessions: D3DRW9 O60611 O60612 Q5VZK5 Q5VZK6 Q9H1R7
Alternative splicing: 2 isoforms:  O95425-1   O95425-2   (Contains a phosphoserine at position 270. Contains a phosphoserine at position 261)

Explore the universe of human proteins at neXtProt for SVIL: NX_O95425

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O95425

    • SVIL Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_003165.2  NP_068506.2  

    ENSEMBL proteins: 
     ENSP00000364549   ENSP00000348128   ENSP00000364547   ENSP00000445472   ENSP00000440343  

    Human Recombinant Protein Products: 
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    Novus Biologicals SVIL Protein
    Novus Biologicals SVIL Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for SVIL

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002102podosome IEA--
    GO:0005634nucleus IDA12711699
    GO:0005737cytoplasm IDA--
    GO:0005886plasma membrane IDA--
    GO:0015629actin cytoskeleton NAS9867483


    SVIL for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for SVIL

    Protein Domains /
    Families
    for SVIL gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SVIL for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR007122 Gelsolin
     IPR003128 Villin_headpiece
     IPR015628 Supervillin
     IPR007123 Gelsolin_dom

    Graphical View of Domain Structure for InterPro Entry O95425

    ProtoNet protein and cluster: O95425

    2 Blocks protein families:
    IPB003128 Villin headpiece
    IPB007122 Gelsolin family signature


    UniProtKB/Swiss-Prot: SVIL_HUMAN, O95425
    Similarity: Belongs to the villin/gelsolin family
    Similarity: Contains 5 gelsolin-like repeats
    Similarity: Contains 1 HP (headpiece) domain


    Function
    for SVIL gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: SVIL_HUMAN, O95425
    Function: Forms a high-affinity link between the actin cytoskeleton and the membrane. Isoform 1 (archvillin) is among
    the first costameric proteins to assemble during myogenesis and it contributes to myogenic membrane structure and
    differentiation. Appears to be involved in myosin II assembly. May modulate myosin II regulation through MLCK during
    cell spreading, an initial step in cell migration. May play a role in invadopodial function. Isoform 2 may be involved
    in modulation of focal adhesions. Supervillin-mediated down-regulation of focal adehesions involves binding to TRIP6
    (By similarity)

         Genatlas biochemistry entry for SVIL:
    superviller,205 kDa,F-actin binding protein,highly expressed in skeletal,cardiac and smooth muscle

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SVIL
    8/23 QIAGEN miScript miRNA Assays for microRNAs that regulate SVIL (see all 23):
    hsa-miR-4307 hsa-miR-4311 hsa-miR-29c hsa-miR-29a hsa-miR-200a hsa-miR-410 hsa-miR-340 hsa-miR-519a
    SwitchGear 3'UTR luciferase reporter plasmid: SVIL 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SVIL (see all 7)
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SVIL

    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding ----
    GO:0051015actin filament binding IDA12711699


    SVIL for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for SVIL:
     Decreased POU5F1-GFP protein e  Decreased TP53 protein express 


    Pathways & Interactions
    for SVIL gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Coregulation of Androgen receptor activity
    		Coregulation of Androgen receptor activity1.00


    1 BioSystems Pathway for SVIL 
        Coregulation of Androgen receptor activity


    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SVIL

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/88 Interacting proteins for SVIL (O954252, 3 ENSP000003481284) via UniProtKB, MINT, STRING, and/or I2D (see all 88)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NEBP209292, 3, ENSP000003862594MINT-7903051 MINT-7903004 MINT-7903035 MINT-7903017 I2D: score=2 STRING: ENSP00000386259
    C7orf55-LUC7L2Q9Y3832, 3MINT-63310 I2D: score=5 
    LUC7L2Q9Y3832, 3, ENSP000003470054MINT-63310 I2D: score=5 STRING: ENSP00000347005
    NME2P223923, ENSP000003655724I2D: score=1 STRING: ENSP00000365572
    ARP102753, ENSP000003638224I2D: score=2 STRING: ENSP00000363822
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007010cytoskeleton organization IEA--
    GO:0007519skeletal muscle tissue development IMP12711699


    SVIL for ontologies           About GeneDecksing



    Drugs & Compounds
    for SVIL gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SVIL for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SVIL
    1 Novoseek chemical compound relationship for SVIL gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    testosterone 46 3 10786829 (1), 11792840 (1), 15178419 (1)

    Search CenterWatch for drugs/clinical trials and news about SVIL 

    Transcripts
    for SVIL gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for SVIL gene (2 alternative transcripts): 
    NM_003174.3  NM_021738.2  

    Unigene Cluster for SVIL:

    Supervillin
    Hs.499209  [show with all ESTs]
    Unigene Representative Sequence: NM_021738
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000375400(uc010qdw.1 uc001iuu.1) ENST00000497265 ENST00000355867
    ENST00000484139 ENST00000460007 ENST00000482607 ENST00000474106 ENST00000491872
    ENST00000464984 ENST00000483758 ENST00000464726 ENST00000490031 ENST00000465422
    ENST00000375398(uc001iut.1 uc009xld.1) ENST00000535393 ENST00000538146(uc009xlc.2)


    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SVIL
    8/23 QIAGEN miScript miRNA Assays for microRNAs that regulate SVIL (see all 23):
    hsa-miR-4307 hsa-miR-4311 hsa-miR-29c hsa-miR-29a hsa-miR-200a hsa-miR-410 hsa-miR-340 hsa-miR-519a
    SwitchGear 3'UTR luciferase reporter plasmid: SVIL 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SVIL (see all 7)
    OriGene shRNA RFP: SVIL
    OriGene siRNA: SVIL
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SVIL
    Clone
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SVIL 
    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SVIL
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SVIL

    Additional cDNA sequence: 

    AF051850.1 AF051851.1 AF109135.1 AK001792.1 AK130535.1 AK302077.1 AK304720.1 AK304799.1 
    AK307640.1 AK310272.1 AL117410.1 BC057241.1 BC070247.1 BC092440.1 BX648589.1 

    24/29 DOTS entries (see all 29):

    DT.456327  DT.317862  DT.91871551  DT.100810134  DT.121271020  DT.121271184  DT.92034983  DT.121271152 
    DT.92351296  DT.121271239  DT.95313430  DT.100786513  DT.121271287  DT.317865  DT.40203389  DT.100681722 
    DT.95313427  DT.102839393  DT.121271123  DT.92438492  DT.95313412  DT.95313428  DT.100713604  DT.121271240 

    24/223 AceView cDNA sequences (see all 223):

    BX457194 CF552324 AI270623 AA478970 BM747458 CR613317 AA410393 BC070247 
    AI077459 AA442438 AI627807 BQ017318 AA826620 AI093891 AF051851 BX280754 
    AA923095 AI499340 BQ960715 AW079676 AA968548 CA396083 BU538996 BG739816 

    GeneLoc Exon Structure

    5/17 Alternative Splicing Database (ASD) splice patterns (SP) for SVIL (see all 17)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b · 17c ^ 18 ^ 19 ^
    SP1:                                      -     -     -     -                                                                                                   
    SP2:        -     -     -                 -     -     -     -                                                                                                   
    SP3:                                      -     -     -     -                                                                                                   
    SP4:                                                        -                                                                                                   
    SP5:                                                                                                                                                        -   

    ExUns: 20 ^ 21 ^ 22a · 22b ^ 23a · 23b · 23c ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30a · 30b ^ 31a · 31b ^ 32 ^ 33 ^ 34
    SP1:                                                                                                                        
    SP2:                                                                                                                        
    SP3:                                                                                                                        
    SP4:                                                                                                                        
    SP5:                                                                                                                        


    ECgene alternative splicing isoforms for SVIL

    Expression
    for SVIL gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SVIL expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    SVIL expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 3 LifeMap Cells 
    NameCategory
    PureStem™ progenitor EN7 (Embryonic Progenitor Cell)
    PureStem™ progenitor SM22 (Embryonic Progenitor Cell)
    Pancreatic endoderm/endocrine precursor-like cells (A scalable, suspensi...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See SVIL Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SVIL

    SOURCE GeneReport for Unigene cluster: Hs.499209

    UniProtKB/Swiss-Prot: SVIL_HUMAN, O95425
    Tissue specificity: Expressed in many tissues. Most abundant in muscle, bone marrow, thyroid gland and salivary gland.
    Isoform 1 (archvillin) is muscle specific

        SABiosciences Expression via Pathway-Focused PCR Array including SVIL: 
              Cell Motility in human mouse rat

    Primer
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SVIL

    Orthologs
    for SVIL gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SVIL gene from 9/25 species (see all 25)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Svil1 , 5 supervillin1, 5 80.84(n)1
    82.59(a)1    		   18 (3.02 cM)5
    2251151  NM_153153.31  NP_694793.11 
     49205405 
    chicken
    (Gallus gallus)    		 Aves SVIL1 supervillin 73.48(n)
    77.18(a)    		   420475  XM_418577.3  XP_418577.3 
    lizard
    (Anolis carolinensis)    		 Reptilia SVIL6
    		 --
    		 65(a)
    		 1 ↔ 1
    		 6(13107847-13169730)
    tropical clawed frog
    (Xenopus tropicalis)    		 Amphibia Str.165382 Transcribed sequence with moderate similarity to protein more 76.09(n)    BX722080.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii Dr.114282 Danio rerio supervillin, mRNA (cDNA clone IMAGE260 more 76.59(n)    BC055667.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG11413
    CG332321    		 actin binding3
    CG332321    		 38(a)3
    47.99(n)1
    38.54(a)1    		   62E43
    27690041  NM_206246.11  NP_995968.11 
    worm
    (Caenorhabditis elegans)    		 Secernentea C10H11.13   -- 25(a)   I(4753751-4759486)   --
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons VLN16
    VLN36
    (see all 5)    		 villin 3
    (see all 5)    		 19(a)
    17(a)
    (see all 5)    		 possible ortholog
    possible ortholog
    (see all 5)    		 2(12744150-12749596)
    3(21243136-21251100)
    rice
    (Oryza sativa)    		 Liliopsida --
    --
    (see all 5)    		 villin protein, putative, expressed
    (see all 5)    		 18(a)
    17(a)
    (see all 5)    		 possible ortholog
    possible ortholog
    (see all 5)    		 8(8507453-8515439)
    4(30278742-30287878)


    ENSEMBL Gene Tree for SVIL (if available)
    TreeFam Gene Tree for SVIL (if available) 

    Paralogs
    for SVIL gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SVIL gene
    FLII2  AVIL2  VILL2  SCIN2  GSN2  VIL12  CAPG2  
    6 SIMAP similar genes for SVIL using alignment to 5 protein entries:     SVIL_HUMAN (see all proteins):
    DKFZp686A17191    DKFZp586H1823    AVIL    VILL    VIL1    EPB49

    SVIL for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for SVIL
    PGOHUM00000261092


    Genomic Variants
    for SVIL gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/5777 NCBI SNPs in SVIL are shown (see all 5777)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 10 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1914352721,2
    		--29745825(+) CAGGCA/GTGTGC 2 -- ds50010--------
    rs561642531,2
    		--29745836(+) CACCAG/TGCCTA 2 -- ds50010--------
    rs78997451,2
    		C,F,A,H,--29745967(+) cacctC/Tgcctg 2 -- ds500111Minor allele frequency- T:0.08NS EA NA WA CSA 666
    rs1177023831,2
    		F,--29745971(+) TCGCCT/CGGCCC 2 -- ds50011Minor allele frequency- C:0.03EA 120
    rs1839994541,2
    		--29745982(+) ATACAA/GTTTTT 2 -- ds50010--------
    rs1155330901,2
    		C,F,--29746025(+) TAGATA/GGATAT 2 -- ds50011Minor allele frequency- G:0.09WA 118
    rs79166411,2
    		C,F,A,H,--29746085(+) CTTCAG/TTATAG 2 -- ds500118Minor allele frequency- T:0.38NS EA NA WA CSA 795
    rs113270401,2
    		C--29746229(+) TTACC-/AAAAAA 2 -- ds50010--------
    rs348449221,2
    		C--29746229(+) AAAAA-/ATTCCA 2 -- ds50010--------
    rs122497921,2
    		F,H,--29746253(+) GAAAGG/TAACAT 2 -- ds50015Minor allele frequency- T:0.02NS EA WA 524

    HapMap Linkage Disequilibrium report for SVIL (29746267 - 29996267 bp, first 250kb of SVIL)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for SVIL
         2 CNVs: 4673 5591
    Human Gene Mutation Database (HGMD): SVIL

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SVIL
    DNA2.0 Custom Variant and Variant Library Synthesis for SVIL

    Disorders / Diseases
    for SVIL gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    SVIL for disorders           About GeneDecksing

    OMIM gene information: 604126    OMIM disorders: --

    7 diseases for SVIL:    About MalaCards
    renal cell carcinoma    multiple sclerosis    alzheimer's disease    prostate cancer
    prostatitis    thyroiditis    carcinoma

    Human Genome Epidemiology (HuGE) Navigator: SVIL (5 documents)

    Export disorders for SVIL gene to outside databases

    Publications
    for SVIL gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SVIL gene, integrated from 9 sources (see all 49):
    (articles sorted by number of sources associating them with SVIL)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Archvillin, a muscle-specific isoform of supervillin, is an early expressed component of the costameric membrane skeleton. (PubMed id 12711699)1, 2, 9 Oh S.W....Luna E.J. (2003)
    2. Cloning, characterization, and chromosomal localization of human superillin (SVIL). (PubMed id 9867483)1, 2, 9 Pope R.K.... Luna E.J. (1998)
    3. Supervillin reorganizes the actin cytoskeleton and increases invadopodial efficiency. (PubMed id 19109420)1, 2, 9 Crowley J.L.... Luna E.J. (2009)
    4. Archvillin anchors in the Z-line of skeletal muscle via the nebulin C-terminus. (PubMed id 18639526)1, 2 Lee M.-A.... Kim C.-R. (2008)
    5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    6. Supervillin (p205): A novel membrane-associated, F-actin-binding protein in the villin/gelsolin superfamily. (PubMed id 9382871)1, 3 Pestonjamasp K.N....Luna E.J. (1997)
    7. The membrane-associated protein, supervillin, acceler ates F-actin-dependent rapid integrin recycling and cell motility. (PubMed id 20331534)1, 9 Fang Z....Luna E.J. (2010)
    8. How to arm a supervillin: designing F-actin binding a ctivity into supervillin headpiece. (PubMed id 19683541)1, 9 Brown J.W....McKnight C.J. (2009)
    9. Supervillin slows cell spreading by facilitating myosin II activation at the cell periphery. (PubMed id 17925381)1, 9 Takizawa N....Luna E.J. (2007)
    10. Supervillin modulation of focal adhesions involving TRIP6/ZRP-1. (PubMed id 16880273)1, 9 Takizawa N....Luna E.J. (2006)

    External Searches for SVIL gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing SVIL gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6840 HGNC: 11480 AceView: SVIL Ensembl:ENSG00000197321 euGenes: HUgn6840
    ECgene: SVIL H-InvDB: SVIL

    Other Databases showing SVIL gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SVIL gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SVIL Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for SVIL gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for SVIL gene:
    Search GeneIP for patents involving SVIL

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    Products
    for SVIL gene

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    About This Section

     
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