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SCIN Gene

protein-coding   GIFtS: 59
GCID: GC07P012610

Scinderin

  See related diseases
at  

(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
Scinderin3
scinderin1 2
KIAA19053 5
adseverin2

External Ids:    HGNC: 216951   Entrez Gene: 854772   Ensembl: ENSG000000067477   OMIM: 6134165   UniProtKB: Q9Y6U33   

Export aliases for SCIN gene to outside databases

Previous GC identifers: GC07P012254 GC07P012354 GC07P012383 GC07P012576 GC07P012488


(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 SCIN Gene:
SCIN is a Ca(2+)-dependent actin-severing and -capping protein (Zunino et al., 2001 (PubMed 11568009)).(supplied
by OMIM, May 2010)

GeneCards Summary for SCIN Gene:
SCIN (scinderin) is a protein-coding gene. Diseases associated with SCIN include rothmund-thomson syndrome, and vesicoureteral reflux. GO annotations related to this gene include actin filament binding and calcium ion binding. An important paralog of this gene is SVIL.

UniProtKB/Swiss-Prot: ADSV_HUMAN, Q9Y6U3
Function: Ca(2+)-dependent actin filament-severing protein that is presumed to have a regulatory function in
exocytosis by affecting the organization of the microfilament network underneath the plasma membrane. In vitro,
also has barbed end capping and nucleating activities in the presence of Ca(2+). Regulates chondrocyte
proliferation and differentiation. MAP kinases p38 and ERK1/2 mediate the adseverin-induced accelerated
differentiation of non-hypertrophic chondrocytes (By similarity)

Gene Wiki entry for SCIN 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_000007.14  NC_018918.2  NT_007819.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the SCIN gene promoter:
         AML1a   Tal-1beta   E47   FOXL1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): SCIN promoter sequence
   Search Chromatin IP Primers for SCIN

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SCIN


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

Entrez Gene cytogenetic band: 7p21.3   Ensembl cytogenetic band:  7p21.3   HGNC cytogenetic band: 7p21.3

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

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P012610:  view genomic region     (about GC identifiers)

Start:
12,610,203 bp from pter      End:
12,693,228 bp from pter
Size:
83,026 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 12,661,354-12,744,363     

(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: ADSV_HUMAN, Q9Y6U3 (See protein sequence)
Recommended Name: Adseverin  
Size: 715 amino acids; 80489 Da
Sequence caution: Sequence=BAB67798.1; Type=Erroneous initiation;
1 PDB 3D structure from and Proteopedia for SCIN:
3FG6 (3D)    
Secondary accessions: A8K2U8 Q8NBZ6 Q8WU97 Q96JC7 Q96PY2
Alternative splicing: 3 isoforms:  Q9Y6U3-1   Q9Y6U3-2   Q9Y6U3-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SCIN: NX_Q9Y6U3

Explore proteomics data for SCIN at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins (2 alternative transcripts): 
    NP_001106177.1  NP_149119.1  

    ENSEMBL proteins: 
     ENSP00000341375   ENSP00000297029   ENSP00000404380   ENSP00000411149   ENSP00000429598  
     ENSP00000428555   ENSP00000430997   ENSP00000390189  

    SCIN Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
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    OriGene MassSpec for SCIN
    OriGene Custom Protein Services for SCIN
    GenScript Custom Purified and Recombinant Proteins Services for SCIN
    Novus Biologicals SCIN Protein
    Novus Biologicals SCIN Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SCIN

    SCIN Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for SCIN
    OriGene Custom Antibody Services for SCIN
    Novus Biologicals SCIN Antibodies
    Abcam antibodies for SCIN
    Cloud-Clone Corp. Antibodies for SCIN
    ThermoFisher Antibody for SCIN
    LSBio Antibodies in human, mouse, rat for SCIN

    SCIN 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 SCIN
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for SCIN
    Cloud-Clone Corp. CLIAs for SCIN


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR007122 Villin/Gelsolin
     IPR007123 Gelsolin_dom

    Graphical View of Domain Structure for InterPro Entry Q9Y6U3

    ProtoNet protein and cluster: Q9Y6U3

    2 Blocks protein domains:
    IPB007122 Gelsolin family signature
    IPB007123 Gelsolin region


    UniProtKB/Swiss-Prot: ADSV_HUMAN, Q9Y6U3
    Similarity: Belongs to the villin/gelsolin family
    Similarity: Contains 6 gelsolin-like repeats


    SCIN 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: ADSV_HUMAN, Q9Y6U3
    Function: Ca(2+)-dependent actin filament-severing protein that is presumed to have a regulatory function in
    exocytosis by affecting the organization of the microfilament network underneath the plasma membrane. In vitro,
    also has barbed end capping and nucleating activities in the presence of Ca(2+). Regulates chondrocyte
    proliferation and differentiation. MAP kinases p38 and ERK1/2 mediate the adseverin-induced accelerated
    differentiation of non-hypertrophic chondrocytes (By similarity)

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001786phosphatidylserine binding ISS--
    GO:0003779actin binding TAS11568009
    GO:0005509calcium ion binding TAS11568009
    GO:00055451-phosphatidylinositol binding TAS11568009
    GO:0005546phosphatidylinositol-4,5-bisphosphate binding ISS--
         
    SCIN for ontologies           About GeneDecksing


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

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

    miRNA
    Products:
        
    miRTarBase miRNAs that target SCIN:
    hsa-mir-335-5p (MIRT017918)

    Block miRNA regulation of human, mouse, rat SCIN using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate SCIN:
    hsa-miR-3163
    SwitchGear 3'UTR luciferase reporter plasmidSCIN 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SCIN
    Predesigned siRNA for gene silencing in human, mouse, rat SCIN

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for SCIN

    Clone
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    OriGene clones in human, mouse for SCIN (see all 14)
    OriGene ORF clones in mouse, rat for SCIN
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): SCIN (NM_033128)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SCIN
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SCIN

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for SCIN
    Browse ESI BIO Cell Lines and PureStem Progenitors for SCIN 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SCIN


    (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
    ADSV_HUMAN, Q9Y6U3: Cytoplasm, cytoskeleton
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol4
    extracellular1
    golgi apparatus1
    nucleus1
    plasma membrane1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ISS--
    GO:0005856cytoskeleton IEA--
    GO:0005938cell cortex ISS--
    GO:0043234protein complex IEA--
    GO:0070062extracellular vesicular exosome IDA19056867

    SCIN 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 SCIN About    
    See pathways by source

    SuperPathContained pathways About
    1Regulation of actin cytoskeleton
    Regulation of actin cytoskeleton0.57
    2Viral carcinogenesis
    Viral carcinogenesis
    3Fc gamma R-mediated phagocytosis
    Fc gamma R-mediated phagocytosis
    4Endochondral Ossification
    Endochondral Ossification

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for SCIN
        Endochondral Ossification


    3 Kegg Pathways  (Kegg details for SCIN):
        Fc gamma R-mediated phagocytosis
    Regulation of actin cytoskeleton
    Viral carcinogenesis


    SCIN for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SCIN
    Interactions:

        Search GeneGlobe Interaction Network for SCIN

    STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

    Selected Interacting proteins for SCIN (Q9Y6U32, 3 ENSP000002970294) via UniProtKB, MINT, STRING, and/or I2D (see all 17)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAP3K3Q997592, 3MINT-48372 I2D: score=2 
    RIPK3Q9Y5722, 3MINT-49080 I2D: score=2 
    ACTA1P681333, ENSP000003556454I2D: score=1 STRING: ENSP00000355645
    ACTC1P680323, ENSP000002903784I2D: score=1 STRING: ENSP00000290378
    ACTG1P632613, ENSP000003315144I2D: score=1 STRING: ENSP00000331514
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008285negative regulation of cell proliferation IMP11568009
    GO:0017156calcium ion-dependent exocytosis ISS--
    GO:0032330regulation of chondrocyte differentiation ISS--
    GO:0043065positive regulation of apoptotic process IMP11568009
    GO:0045010actin nucleation ISS--

    SCIN 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 SCIN (ADSV)

    Selected HMDB Compounds for SCIN (see all 124)    About this table
    CompoundSynonyms CAS #PubMed Ids
    PS(14:0/14:0)Phosphatidylserine(14:0/14:0) (see all 7)----
    PS(14:0/14:1(9Z))Phosphatidylserine(14:0/14:1n5) (see all 13)----
    PS(14:0/16:0)1-myristoyl-2-palmitoyl-sn-glycero-3-phosphoserine (see all 7)----
    PS(14:0/16:1(9Z))PS(14:0/16:1n7) (see all 13)----
    PS(14:0/18:0)Phosphatidylserine(32:0) (see all 7)----
    PS(14:0/18:1(9Z))PSer(14:0/18:1n9) (see all 13)----
    PS(14:0/18:2(9Z,12Z))PS(14:0/18:2) (see all 13)----
    PS(14:0/18:3(9Z,12Z,15Z))Phosphatidylserine(14:0/18:3) (see all 14)----
    PS(14:0/20:3(8Z,11Z,14Z))PSer(14:0/20:3) (see all 14)----
    PS(14:0/20:4(5Z,8Z,11Z,14Z))PS(34:4) (see all 13)----

    7 Novoseek inferred chemical compound relationships for SCIN gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pip2 71.2 7 8780652 (3), 8547642 (1), 10566943 (1)
    digitonin 55.5 9 1402916 (6), 8547642 (1)
    catecholamine 53.6 10 7643107 (3), 1645735 (2), 1402916 (2), 9226413 (1)
    calcium 35.3 31 19666531 (3), 11158248 (3), 1402916 (3), 7643107 (2) (see all 12)
    nicotine 29.6 5 7905766 (2), 1331119 (2), 1337454 (1)
    phosphatidylinositol 18.2 1 9452496 (1)
    histamine 13.6 3 7643107 (3)



    SCIN 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 SCIN gene (2 alternative transcripts): 
    NM_001112706.2  NM_033128.3  

    Unigene Cluster for SCIN:

    Scinderin
    Hs.655515  [show with all ESTs]
    Unigene Representative Sequence: AK023847
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000341757 ENST00000297029(uc003ssn.4 uc010ktt.3) ENST00000417018
    ENST00000436854 ENST00000523729 ENST00000518849 ENST00000519209(uc003sso.4)
    ENST00000486980 ENST00000473722 ENST00000476649 ENST00000445618
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat SCIN using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate SCIN:
    hsa-miR-3163
    SwitchGear 3'UTR luciferase reporter plasmidSCIN 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for SCIN
    Predesigned siRNA for gene silencing in human, mouse, rat SCIN
    Clone
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    OriGene clones in human, mouse for SCIN (see all 14)
    OriGene ORF clones in mouse, rat for SCIN
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): SCIN (NM_033128)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SCIN
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SCIN
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for SCIN
    OriGene qSTAR qPCR primer pairs in human, mouse for SCIN
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SCIN
      QuantiTect SYBR Green Assays in human, mouse, rat SCIN
      QuantiFast Probe-based Assays in human, mouse, rat SCIN

    Additional mRNA sequence: 

    AB067492.1 AF276507.1 AK023847.1 AK027778.1 AK075123.1 AK075198.1 AK290363.1 BC021090.1 

    8 DOTS entries:

    DT.430379  DT.91884272  DT.412157  DT.100692108  DT.75122151  DT.97838624  DT.87001203  DT.97822860 

    Selected AceView cDNA sequences (see all 62):

    CA447429 AI222285 BG400563 BX113353 BC021090 AK075198 AI089017 BQ717662 
    BC075797 NM_033128 BX506250 AK027778 CB960454 BG763010 AL037345 AI537080 
    BF439430 CA427600 BQ022563 AI569173 BG001639 BE897112 BU193785 CA448540 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SCIN (see all 8)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b · 12c ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^
    SP1:              -     -                             -     -     -           -                                                                                 
    SP2:              -     -                             -     -     -           -                                                           -                     
    SP3:                                                        -     -           -                                                                                 
    SP4:                                                                                                                                                            
    SP5:                                                              -           -                                                                                 

    ExUns: 22
    SP1:      
    SP2:      
    SP3:      
    SP4:      
    SP5:      


    ECgene alternative splicing isoforms for SCIN

    (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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    SCIN expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCAGAGAAAA
    SCIN Expression
    About this image


    SCIN expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 8 entries
             Mesenchymal Condensate Cells Zeugopod
             HyStem+TGFbeta3+GDF5-induced SK11 cells
     
     Cartilage (Muscoskeletal System)    fully expand to see all 8 entries
             Mesenchymal Condensate Cells Zeugopod
             HyStem+TGFbeta3+GDF5-induced SK11 cells
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Limb (Muscoskeletal System)
             Mesenchymal Condensate Cells Zeugopod
     
     Adipose (Muscoskeletal System)
             HyStem+BMP4-induced SM30 cells
    SCIN Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SCIN Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.655515
        Custom PCR Arrays for SCIN
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for SCIN
    OriGene qSTAR qPCR primer pairs in human, mouse for SCIN
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SCIN
    QuantiTect SYBR Green Assays in human, mouse, rat SCIN
    QuantiFast Probe-based Assays in human, mouse, rat SCIN
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SCIN

    (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 chordates.

    Orthologs for SCIN gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Scin1 , 5 scinderin1, 5 86.81(n)1
    91.47(a)1
      12 (18.06 cM)5
    202591  NM_001146196.11  NP_001139668.11 
     400597695 
    chicken
    (Gallus gallus)
    Aves SCIN1 scinderin 76.55(n)
    80.7(a)
      420588  NM_001244593.1  NP_001231522.1 
    lizard
    (Anolis carolinensis)
    Reptilia SCIN6
    scinderin
    81(a)
    1 ↔ 1
    6(25776841-25843100)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004957601 adseverin-like 72.3(n)
    74.23(a)
      100495760  XM_002939013.2  XP_002939059.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BC056544.12   -- 72.41(n)    BC056544.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SCIN gene
    SVIL2  FLII2  VILL2  AVIL2  GSN2  CAPG2  VIL12  
    6 SIMAP similar genes for SCIN using alignment to 6 protein entries:     ADSV_HUMAN (see all proteins):
    GSN    VIL1    AVIL    CAPG    VILL    FLII

    SCIN for paralogs           About GeneDecksing



    (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)
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    Selected SNPs for SCIN (see all 2061)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs78042601,2
    C,F,A,H--12608263(+) atgaaG/Agtatt 1 -- us2k122Minor allele frequency- A:0.30NS EA NA WA CSA 2157
    rs749866321,2
    C,F--12608271(+) ATTCTC/GTGAAG 1 -- us2k11Minor allele frequency- G:0.03EA 120
    rs1445195201,2
    --12608295(+) CTAAAC/GTCTCG 1 -- us2k10--------
    rs770720001,2
    C--12608438(+) TCAGGC/ACACTG 1 -- us2k12Minor allele frequency- A:0.10NA 122
    rs1811780011,2
    --12608487(+) TTTCTA/GACCCC 1 -- us2k10--------
    rs1145791851,2
    F--12608572(+) TTGGCC/AAATCA 1 -- us2k11Minor allele frequency- A:0.04WA 118
    rs782404041,2
    F--12608590(+) ATTCTC/ACCCCA 1 -- us2k11Minor allele frequency- A:0.04WA 118
    rs1837540171,2
    --12608603(+) CCCGCG/TGATAA 1 -- us2k10--------
    rs1484294391,2
    --12608675(+) AGAGGA/GTAGAG 1 -- us2k10--------
    rs752748871,2
    C,F--12608706(+) CTACAC/GTATGA 1 -- us2k11Minor allele frequency- G:0.03NA 120

    HapMap Linkage Disequilibrium report for SCIN (12610203 - 12693228 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for SCIN (see all 12):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2596299CNV Deletion19546169
    nsv519573CNV Loss19592680
    nsv527833CNV Loss19592680
    nsv528031CNV Loss19592680
    nsv524108CNV Loss19592680
    nsv830907CNV Loss17160897
    dgv406n21CNV Loss19592680
    nsv464379CNV Loss19166990
    nsv470066CNV Loss18288195
    nsv520866CNV Loss19592680

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SCIN
    DNA2.0 Custom Variant and Variant Library Synthesis for SCIN

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 613416    OMIM disorders: --

    3 diseases for SCIN:    
    About MalaCards
    rothmund-thomson syndrome    vesicoureteral reflux    leukemia

    1 disease from the University of Copenhagen DISEASES database for SCIN:
    Vesicoureteral reflux

    SCIN for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for SCIN gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tumors 0 1 11568009 (1)

    Genetic Association Database (GAD): SCIN

    Export disorders for SCIN 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 SCIN gene, integrated from 10 sources (see all 43):
    (articles sorted by number of sources associating them with SCIN)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The crystal structure of the C-terminus of adseverin reveals the actin-binding interface. (PubMed id 19666531)1, 2, 9 Chumnarnsilpa S.... Robinson R.C. (Proc. Natl. Acad. Sci. U.S.A. 2009)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    4. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (Nature 2003)
    5. Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins. (PubMed id 11572484)1, 2 Nagase T.... Ohara O. (DNA Res. 2001)
    6. Ca2+ and pH determine the interaction of chromaffin cell scinderin with phosphatidylserine and phosphatidylinositol 4,5,-biphosphate and its cellular distribution during nicotinic-receptor stimulation and protein kinase C activation. (PubMed id 1331119)1, 9 RodrA-guez Del Castillo A....TrifarA^ J.M. (J. Cell Biol. 1992)
    7. Human platelets contain scinderin, a Ca(2+)-dependent actin filament-severing protein. (PubMed id 1621245)1, 9 RodrA-guez Del Castillo A....TrifarA^ J.M. (Thromb. Haemost. 1992)
    8. Expression of scinderin in megakaryoblastic leukemia cells induces differentiation, maturation, and apoptosis with release of plateletlike particles and inhibits proliferation and tumorigenesis. (PubMed id 11568009)1, 9 Zunino R....TrifarA^ J.M. (Blood 2001)
    9. The actin-binding proteins adseverin and gelsolin are both highly expressed but differentially localized in kidney and intestine. (PubMed id 9819354)1, 9 Lueck A....Kwiatkowski D.J. (J. Cell. Sci. 1998)
    10. The role of different Scinderin domains in the control of F-actin cytoskeleton during exocytosis. (PubMed id 12438125)1, 9 Lejen T....TrifarA^ J.M. (Ann. N. Y. Acad. Sci. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 85477 HGNC: 21695 AceView: SCIN Ensembl:ENSG00000006747 euGenes: HUgn85477
    ECgene: SCIN Kegg: 85477 H-InvDB: SCIN

    (According to HUGE)
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    HUGE: KIAA1905

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SCIN Pharmacogenomics, SNPs, Pathways

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

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



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