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

SVIL Gene

protein-coding   GIFtS: 60
GCID: GC10M029786

Supervillin

Alzheimer's & Parkinson's Diseases Congress
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at  

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

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


(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 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 renal cell carcinoma, and alzheimer's disease. 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
adehesions 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NT_008705.16  NC_018921.2  
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

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for SVIL at MOPED 

Post-translational modifications:

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

  • SVIL Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SVIL Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_003165.2  NP_068506.2  

    ENSEMBL proteins: 
     ENSP00000364549   ENSP00000348128   ENSP00000364547   ENSP00000445472   ENSP00000440343  

    Human Recombinant Protein Products for SVIL: 
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. 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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    Cloud-Clone Corp. CLIAs for SVIL


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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
    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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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
    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

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    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 - Custom generated mouse model solutions for SVIL 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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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    SwitchGear 3'UTR luciferase reporter plasmidSVIL 3' UTR sequence
    Inhib. RNA
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SVIL


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    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


    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SVIL

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

    5/97 Interacting proteins for SVIL (O954252, 3 ENSP000003481284) via UniProtKB, MINT, STRING, and/or I2D (see all 97)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NEBP209292, 3, ENSP000003862594MINT-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 (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



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 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)

    Search CenterWatch for drugs/clinical trials and news about SVIL

    (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,
    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, Sirion Biotech, 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
    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
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    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 plasmidSVIL 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SVIL
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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 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 

    24/29 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 

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

    AA505904 AW516079 CN481349 BU538996 NM_003174 AA968548 AA478970 AA974342 
    AI093891 BQ960715 AI499340 AA826620 CR613317 AA442438 AA410393 AI270623 
    AI589381 BQ017318 BU194773 BX457194 AW079676 CA396083 AA468532 AI627807 

    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

    (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)      SVIL embryonic expression: see
    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 
     5/4 selected tissues (see all 4) fully expand
     
     Pancreas (Endocrine System)
             Pancreatic endoderm/endocrine precursor-like cells ( A scalable, suspension protocol...
     
     Uncategorized (Uncategorized)
             PureStem Progenitor SM22
     
     Skeletal Muscle (Muscoskeletal System)
     
     Larynx (Respiratory System)

    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

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    In Situ
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    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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for SVIL gene from 7/14 species (see all 14)    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
    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
    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)   --


    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)
    About This Section
    Paralogs for SVIL gene
    FLII2  VILL2  AVIL2  SCIN2  GSN2  CAPG2  VIL12  
    6 SIMAP similar genes for SVIL using alignment to 6 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) 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

    10/6812 SNPs in SVIL are shown (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) 10/13 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
    SABiosciences Cancer Mutation 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.)
    About This Section
    OMIM gene information: 604126    OMIM disorders: --

    6 diseases for SVIL:    About MalaCards
    renal cell carcinoma    alzheimer's disease    thyroiditis    prostate cancer
    prostatitis    endotheliitis


    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)
    About This Section

    PubMed articles for SVIL gene, integrated from 9 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. (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. How to arm a supervillin: designing F-actin binding a ctivity into supervillin headpiece. (PubMed id 19683541)1, 2, 9 Brown J.W....McKnight C.J. (2009)
    4. Supervillin reorganizes the actin cytoskeleton and increases invadopodial efficiency. (PubMed id 19109420)1, 2, 9 Crowley J.L.... Luna E.J. (2009)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    6. KIF5B gene sequence variation and response of cardiac stroke volume to regular exercise. (PubMed id 18984674)1, 4 Argyropoulos G....Rankinen T. (2009)
    7. Single nucleotide polymorphisms of microRNA machinery genes modify the risk of renal cell carcinoma. (PubMed id 19047128)1, 4 Horikawa Y....Wu X. (2008)
    8. Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis. (PubMed id 19010793)1, 4 Baranzini S.E....Oksenberg J.R. (2008)
    9. 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)
    10. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PubMed id 16385451)1, 4 Grupe A....Goate A. (2006)

    (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)

    (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

    (According to HUGE)
    About This Section
      --

    (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

    (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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

     
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