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SVIL Gene

protein-coding   GIFtS: 61
GCID: GC10M029841

Supervillin

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
supervillin1 2
archvillin1 2
p205/p2502 3
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 GC10M029786


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SVIL Gene:
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)

GeneCards Summary for SVIL Gene:
SVIL (supervillin) is a protein-coding gene. Diseases associated with SVIL include cystic fibrosis, and renal cell carcinoma. GO annotations related to this gene include actin filament binding. An important paralog of this gene is FLII.

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
adhesions involves binding to TRIP6 (By similarity)

Gene Wiki entry 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000010.11  NT_008705.17  NC_018921.2  
Regulatory elements:
   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 Chromatin IP Primers for SVIL

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 GC10M029841:  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

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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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)
2 PDB 3D structures from and Proteopedia for SVIL:
2K6M (3D)        2K6N (3D)    
Secondary accessions: D3DRW9 M1J557 O60611 O60612 Q5VZK5 Q5VZK6 Q9H1R7
Alternative splicing: 4 isoforms:  O95425-1   O95425-2   O95425-3   O95425-4   (Contains a phosphoserine at position 270. Contains a phosphoserine at position 261)

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

Explore proteomics data for SVIL at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SVIL Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000364549   ENSP00000348128   ENSP00000364547   ENSP00000445472   ENSP00000440343  

    SVIL Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for SVIL
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    Novus Biologicals SVIL Protein
    Novus Biologicals SVIL Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SVIL

    SVIL Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    R&D Systems Antibodies for SVIL (Supervillin)
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    Novus Biologicals SVIL Antibodies
    Abcam antibodies for SVIL (Q569J5, O95425)
    Cloud-Clone Corp. Antibodies for SVIL
    Search ThermoFisher Antibodies for SVIL
    LSBio Antibodies in human, mouse, rat for SVIL

    SVIL Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for SVIL
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for SVIL
    Cloud-Clone Corp. CLIAs for SVIL


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR007122 Villin/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 domains:
    IPB003128 Villin headpiece
    IPB007122 Gelsolin family signature


    UniProtKB/Swiss-Prot: SVIL_HUMAN, O95425
    Domain: As opposed to other villin-type headpiece domains, supervillin HP (SVHP) doesn't bind F-actin due to the
    absence of a conformationally flexible region (V-loop) (PubMed:19683541)
    Similarity: Belongs to the villin/gelsolin family
    Similarity: Contains 5 gelsolin-like repeats
    Similarity: Contains 1 HP (headpiece) domain


    SVIL for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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
    adhesions 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

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding ----
    GO:0005515protein binding IPI18639526
    GO:0051015actin filament binding IDA12711699
         
    SVIL for ontologies           About GeneDecksing


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

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Svil):
     hematopoietic system  homeostasis/metabolism 

    SVIL for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SVIL
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SVIL

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SVIL
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SVIL

    miRNA
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    miRTarBase miRNAs that target SVIL:
    hsa-mir-615-3p (MIRT039692), hsa-let-7e-5p (MIRT051583), hsa-mir-335-5p (MIRT016778), hsa-mir-18a-3p (MIRT040980)

    Block miRNA regulation of human, mouse, rat SVIL using miScript Target Protectors
    Selected qRT-PCR 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 plasmidSVIL 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat SVIL

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    GenScript: all cDNA clones in your preferred vector (see all 2): SVIL (NM_003174)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SVIL
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SVIL

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for SVIL 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SVIL


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SVIL_HUMAN, O95425: 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
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    nucleus5
    plasma membrane5
    cytosol3

    Gene Ontology (GO): Selected cellular component terms (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


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for SVIL About    
    See pathways by source

    SuperPathContained pathways About
    1Coregulation of Androgen receptor activity
    Coregulation of Androgen receptor activity


    1 BioSystems Pathway for SVIL
        Coregulation of Androgen receptor activity


        Pathway & Disease-focused RT2 Profiler PCR Array including SVIL: 
              Cell Motility in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for SVIL

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

    Selected Interacting proteins for SVIL (O954251, 2, 3 ENSP000003481284) via UniProtKB, MINT, STRING, and/or I2D (see all 102)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NEBP209291, 2, 3, ENSP000003862594EBI-487145,EBI-1049657 MINT-7903051 MINT-7903004 MINT-7903035 MINT-7903017 I2D: score=2 STRING: ENSP00000386259
    LUC7L2Q9Y3832, 3MINT-63310 I2D: score=5 
    GPSM3Q9Y4H43, ENSP000003641804I2D: score=1 STRING: ENSP00000364180
    ENSG00000206314Q9Y4H43I2D: score=1 
    ENSG00000233490Q9Y4H43I2D: score=1 
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

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

    SVIL for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SVIL

    1 Novoseek inferred 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)



    SVIL for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    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
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000375400(uc010qdw.1 uc001iuu.1) ENST00000355867 ENST00000460007
    ENST00000482607 ENST00000474106 ENST00000491872 ENST00000464984 ENST00000483758
    ENST00000464726 ENST00000490031 ENST00000465422 ENST00000375398(uc001iut.1 uc009xld.1)
    ENST00000535393 ENST00000538146(uc009xlc.2)

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat SVIL using miScript Target Protectors
    Selected qRT-PCR 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 plasmidSVIL 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for SVIL
    Predesigned siRNA for gene silencing in human, mouse, rat SVIL
    Clone
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    OriGene clones in human, mouse for SVIL (see all 9)
    OriGene ORF clones in mouse, rat for SVIL
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): SVIL (NM_003174)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SVIL
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SVIL
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for SVIL
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SVIL
      QuantiTect SYBR Green Assays in human, mouse, rat SVIL
      QuantiFast Probe-based Assays in human, mouse, rat SVIL

    Additional mRNA 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 JX467682.1 

    Selected DOTS entries (see all 29):

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

    Selected AceView cDNA sequences (see all 223):

    AI499340 BG739816 AI433537 AA410393 AA468532 CR613317 AA826620 AA974342 
    BQ017318 AF051851 BU194773 NM_003174 AW516079 BE677541 BC070247 CF552324 
    BX280754 CA396083 BQ960715 BU538996 AI093891 AI077459 BX457194 AI623557 

    GeneLoc Exon Structure

    Selected 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

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SVIL expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    SVIL Expression
    About this image


    SVIL expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Blood (Hematopoietic System)
             Granulocytes Peripheral Blood
     
     Skeletal Muscle (Muscoskeletal System)
     
     Larynx (Respiratory System)
    SVIL Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SVIL Protein Expression

    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

        Pathway & Disease-focused RT2 Profiler 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 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)
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    This gene was present in the common ancestor of animals.

    Orthologs for SVIL gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Svil1 , 5 supervillin1, 5 80.79(n)1
    82.68(a)1
      18 (3.02 cM)5
    2251151  NM_153153.31  NP_694793.11 
     49205405 
    chicken
    (Gallus gallus)
    Aves SVIL1 supervillin 70.19(n)
    70.24(a)
      420475  XM_004939197.1  XP_004939254.1 
    lizard
    (Anolis carolinensis)
    Reptilia SVIL6
    supervillin
    68(a)
    1 ↔ 1
    6(13106655-13219387)
    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
    49.23(n)1
    40.44(a)1
      62E43
    27690041  NM_206246.21  NP_995968.11 
    worm
    (Caenorhabditis elegans)
    Secernentea C10H11.13   -- 25(a)   I(4753751-4759486)   --


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

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

    SVIL for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for SVIL
    PGOHUM00000261092


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for SVIL (see all 6812)    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
    C,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
    rs1476806981,2
    --29746085(+) CTAGGA/CTTGTA 1 -- us2k10--------
    rs1858859571,2
    --29746174(+) ACTTCA/CTTTTA 1 -- us2k10--------
    rs113270401,2
    C--29746229(+) TTACC-/AAAAAA 2 -- ds50010--------

    HapMap Linkage Disequilibrium report for SVIL (29746267 - 29996267 bp, first 250kb of SVIL)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for SVIL (see all 13):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2734961CNV Deletion23290073
    esv1599217CNV Deletion17803354
    esv2678748CNV Deletion23128226
    esv1993198CNV Deletion18987734
    esv2734972CNV Deletion23290073
    esv1019439CNV Insertion17803354
    nsv6221CNV Insertion18451855
    nsv6210CNV Loss18451855
    nsv519699CNV Loss19592680
    nsv24186CNV Loss16902084

    Human Gene Mutation Database (HGMD): SVIL
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SVIL
    DNA2.0 Custom Variant and Variant Library Synthesis for SVIL

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604126    OMIM disorders: --

    9 diseases for SVIL:    
    About MalaCards
    cystic fibrosis    renal cell carcinoma    multiple sclerosis    thyroiditis
    alzheimer's disease    prostatitis    prostate cancer    endotheliitis
    malaria


    SVIL for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): SVIL
    Human Genome Epidemiology (HuGE) Navigator: SVIL (5 documents)

    Export disorders for SVIL gene to outside databases

    (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)
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    PubMed articles for SVIL gene, integrated from 10 sources (see all 54):
    (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. (J. Cell Sci. 2003)
    2. Cloning, characterization, and chromosomal localization of human supervillin (SVIL). (PubMed id 9867483)1, 2, 9 Pope R.K.... Luna E.J. (Genomics 1998)
    3. How to arm a supervillin: designing F-actin binding activity into supervillin headpiece. (PubMed id 19683541)1, 2, 9 Brown J.W.... McKnight C.J. (J. Mol. Biol. 2009)
    4. Supervillin reorganizes the actin cytoskeleton and increases invadopodial efficiency. (PubMed id 19109420)1, 2, 9 Crowley J.L.... Luna E.J. (Mol. Biol. Cell 2009)
    5. Supervillin-mediated Suppression of p53 Protein Enhances Cell Survival. (PubMed id 23382381)1, 2 Fang Z. and Luna E.J. (J. Biol. Chem. 2013)
    6. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    7. KIF5B gene sequence variation and response of cardiac stroke volume to regular exercise. (PubMed id 18984674)1, 4 Argyropoulos G....Rankinen T. (Physiol. Genomics 2009)
    8. Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis. (PubMed id 19010793)1, 4 Baranzini S.E....Oksenberg J.R. (Hum. Mol. Genet. 2009)
    9. Single nucleotide polymorphisms of microRNA machinery genes modify the risk of renal cell carcinoma. (PubMed id 19047128)1, 4 Horikawa Y....Wu X. (Clin. Cancer Res. 2008)
    10. 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. (Biochem. Biophys. Res. Commun. 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

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

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for SVIL Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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