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SVEP1 Gene

protein-coding   GIFtS: 49
GCID: GC09M113127

Sushi, Von Willebrand Factor Type A, EGF And Pentraxin Domain...

(Previous name: chromosome 9 open reading frame 13)
(Previous symbol: C9orf13)
  See SVEP1-related disease
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
Sushi, Von Willebrand Factor Type A, EGF And Pentraxin Domain
Containing 11 2
     CCP Module-Containing Protein 222 3
C9orf131 2 3     POLYDOM2 5
SELOB2 3 5     Chromosome 9 Open Reading Frame 131
Selectin-Like Osteoblast-Derived Protein2 3     Selectin-Like Protein2
Serologically Defined Breast Cancer Antigen NY-BR-382 3     Sushi, Von Willebrand Factor Type A, EGF And Pentraxin Domain-Containing
Protein 12
CCP222 3     Polydom3
SEL-OB2 3     

External Ids:    HGNC: 159851   Entrez Gene: 799872   Ensembl: ENSG000001651247   OMIM: 6116915   UniProtKB: Q4LDE53   

Export aliases for SVEP1 gene to outside databases

Previous GC identifers: GC09U900662 GC09M110209 GC09M112167 GC09M082729


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for SVEP1 Gene:
SVEP1 (sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1) is a protein-coding gene. Diseases associated with SVEP1 include breast cancer. GO annotations related to this gene include chromatin binding and calcium ion binding. An important paralog of this gene is CSMD1.

UniProtKB/Swiss-Prot: SVEP1_HUMAN, Q4LDE5
Function: May play a role in the cell attachment process (By similarity)




(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 at NCBI GenBank:
NC_000009.11  NC_018920.2  NT_008470.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the SVEP1 gene promoter:
         AhR   STAT1   Pax-2   STAT1beta   AP-4   Pax-2a   LCR-F1   STAT1alpha   Max   c-Myc   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for SVEP1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SVEP1


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

Entrez Gene cytogenetic band: 9q32   Ensembl cytogenetic band:  9q31.3   HGNC cytogenetic band: 9q31-q32

SVEP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SVEP1 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M113127:  view genomic region     (about GC identifiers)

Start:
113,127,528 bp from pter      End:
113,342,160 bp from pter
Size:
214,633 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: SVEP1_HUMAN, Q4LDE5 (See protein sequence)
Recommended Name: Sushi, von Willebrand factor type A, EGF and pentraxin domain-containing protein 1 precursor  
Size: 3571 amino acids; 390170 Da
Sequence caution: Sequence=AAG48257.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAG48257.1; Type=Frameshift; Positions=2630, 2638, 2655; Sequence=BAB14617.1; Type=Erroneous initiation;
Note=Translation N-terminally extended; Sequence=BAB55420.1; Type=Erroneous initiation; Note=Translation
N-terminally extended; Sequence=CAH73557.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=CAH73558.1; Type=Erroneous gene model prediction; Sequence=CAH74138.1; Type=Erroneous initiation;
Note=Translation N-terminally extended; Sequence=CAH74139.1; Type=Erroneous gene model prediction;
Sequence=CAI14068.1; Type=Erroneous gene model prediction;
Secondary accessions: Q0P675 Q5D213 Q5T938 Q5VTE4 Q5VTE5 Q7Z387 Q7Z3G3 Q8NBT9 Q96JU7 Q9H284
Q9H8J9
Alternative splicing: 4 isoforms:  Q4LDE5-1   Q4LDE5-2   Q4LDE5-3   Q4LDE5-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SVEP1: NX_Q4LDE5

Explore proteomics data for SVEP1 at MOPED

Post-translational modifications: 

  • O-glycosylated with core 1 or possibly core 8 glycans1
  • Glycosylation2 at Asn186, Asn847, Asn1102, Asn3018, Asn3186
  • Modification sites at PhosphoSitePlus

  • See SVEP1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_699197.3  
    ENSEMBL proteins: 
     ENSP00000297826   ENSP00000363593   ENSP00000363585   ENSP00000384917   ENSP00000304118  

    SVEP1 Human Recombinant Protein Products:

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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for SVEP1 

    SVEP1 Antibody Products:

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    Abcam antibodies for SVEP1
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    Search LSBio for Antibodies for SVEP1

    SVEP1 Assay Products:

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    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for SVEP1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 14):
     IPR011641 Tyr-kin_ephrin_A/B_rcpt-like
     IPR001881 EGF-like_Ca-bd_dom
     IPR000742 EG-like_dom
     IPR013320 ConA-like_subgrp
     IPR009030 Growth_fac_rcpt_N_dom

    Graphical View of Domain Structure for InterPro Entry Q4LDE5

    ProtoNet protein and cluster: Q4LDE5

    2 Blocks protein domains:
    IPB001759 Pentaxin
    IPB001881 EGF-like calcium-binding


    UniProtKB/Swiss-Prot: SVEP1_HUMAN, Q4LDE5
    Similarity: Contains 9 EGF-like domains
    Similarity: Contains 2 HYR domains
    Similarity: Contains 1 pentaxin domain
    Similarity: Contains 34 Sushi (CCP/SCR) domains
    Similarity: Contains 1 VWFA domain


    Find genes that share domains with SVEP1           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SVEP1_HUMAN, Q4LDE5
    Function: May play a role in the cell attachment process (By similarity)

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003682chromatin binding IEA--
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding ----
         
    Find genes that share ontologies with SVEP1           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for SVEP1:
     Decreased viability with pacli  Synthetic lethal with Ras 

         1 MGI phenotypic allele for Svep1 (no phenotypes)

    Find genes that share phenotypes with SVEP1           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SVEP1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SVEP1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SVEP1
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    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate SVEP1 (see all 32):
    hsa-miR-495 hsa-miR-15a hsa-miR-29a hsa-miR-29c hsa-miR-767-5p hsa-miR-3074-3p hsa-miR-138-2* hsa-miR-103a
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat SVEP1

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: SVEP1 (NM_153366)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SVEP1
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat SVEP1

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SVEP1


    (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
    SVEP1_HUMAN, Q4LDE5: Secreted (Potential). Cytoplasm. Membrane; Peripheral membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    extracellular3
    plasma membrane3
    endoplasmic reticulum1
    mitochondrion1
    nucleus1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--
    GO:0005737cytoplasm IEA--
    GO:0016020membrane IEA--

    Find genes that share ontologies with SVEP1           About GenesLikeMe


    (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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SVEP1
    Interactions:

        Search GeneGlobe Interaction Network for SVEP1

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    5 Interacting proteins for SVEP1 (Q4LDE53 ENSP000003849174) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMAD3P840223, ENSP000003329734I2D: score=3 STRING: ENSP00000332973
    SKILP127573, ENSP000002591194I2D: score=5 STRING: ENSP00000259119
    SMAD9O151983, ENSP000003691544I2D: score=3 STRING: ENSP00000369154
    ZFYVE9O954053, ENSP000002877274I2D: score=3 STRING: ENSP00000287727
    ATF7IPQ6VMQ63I2D: score=3 
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007155cell adhesion IEA--

    Find genes that share ontologies with SVEP1           About GenesLikeMe



    (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 SVEP1



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for SVEP1 gene: 
    NM_153366.3  

    Unigene Cluster for SVEP1:

    Sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1
    Hs.522334  [show with all ESTs]
    Unigene Representative Sequence: NM_153366
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000297826 ENST00000374469 ENST00000476205 ENST00000467821 ENST00000374461(uc004bev.3 uc004beu.2)
    ENST00000401783(uc010mty.3 uc010mtz.3) ENST00000302728(uc010mua.1)

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat SVEP1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SVEP1 (see all 32):
    hsa-miR-495 hsa-miR-15a hsa-miR-29a hsa-miR-29c hsa-miR-767-5p hsa-miR-3074-3p hsa-miR-138-2* hsa-miR-103a
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
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    Predesigned siRNA for gene silencing in human, mouse, rat SVEP1
    Clone
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    OriGene clones in human, mouse for SVEP1 (see all 5)
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SVEP1 (NM_153366)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SVEP1
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat SVEP1
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for SVEP1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SVEP1
      QuantiTect SYBR Green Assays in human, mouse, rat SVEP1
      QuantiFast Probe-based Assays in human, mouse, rat SVEP1

    Additional mRNA sequence: 

    AF308289.1 AJ619977.1 AK075200.1 AK075234.1 AK122605.1 AL079279.1 AL832416.1 AY243503.1 
    AY916667.1 BC030816.1 

    14 DOTS entries:

    DT.40281191  DT.101980266  DT.408476  DT.447914  DT.95159539  DT.100025504  DT.121164814  DT.309188 
    DT.40231486  DT.425629  DT.95159537  DT.309187  DT.40107578  DT.100017215 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for SVEP1    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15
    SP1:                                                                                                      
    SP2:              -                                                                                       


    ECgene alternative splicing isoforms for SVEP1

    (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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    SVEP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTAGGGCTCT
    SVEP1 Expression
    About this image


    SVEP1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Mesenchymal Condensate Cells Zeugopod
             Zeugopod Periosteum
     
     Limb (Muscoskeletal System)
             Mesenchymal Condensate Cells Zeugopod
     
     Cartilage (Muscoskeletal System)
             Mesenchymal Condensate Cells Zeugopod
     
     Brain (Nervous System)
             Cerebellum
     
     Placenta (Extraembryonic Tissues)
    SVEP1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SVEP1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.522334

    UniProtKB/Swiss-Prot: SVEP1_HUMAN, Q4LDE5
    Tissue specificity: Present in mesenchymal primary cultured cell lysates (at protein level). Highly expressed in
    placenta. Also expressed in marrow stromal cell. Weakly or not expressed in other tissues

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SVEP1

    (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 SVEP1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Svep11 , 5 sushi, von Willebrand factor type A, EGF and pentraxin more1, 5 82.68(n)1
    81.88(a)1
      4 (31.87 cM)5
    648171  NM_022814.21  NP_073725.21 
     580424425 
    chicken
    (Gallus gallus)
    Aves SVEP11 sushi, von Willebrand factor type A, EGF and pentraxin more 71.67(n)
    71.46(a)
      427338  XM_424917.4  XP_424917.4 
    lizard
    (Anolis carolinensis)
    Reptilia SVEP16
    sushi, von Willebrand factor type A, EGF and pentr...
    67(a)
    1 ↔ 1
    GL343476.1(23931-165299)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia svep11 sushi, von Willebrand factor type A, EGF and pentraxin more 64.32(n)
    60.79(a)
      100493788  XM_002942621.2  XP_002942667.2 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5673571 sushi, von Willebrand factor type A, EGF and pentraxin more 57.66(n)
    52.43(a)
      567357  XM_690650.6  XP_695742.6 
    fruit fly
    (Drosophila melanogaster)
    Insecta hig6
    hikaru genki
    18(a)
    1 → many
    2R(5115286-5134752)
    worm
    (Caenorhabditis elegans)
    Secernentea lev-96
    Protein LEV-9 (lev-9) mRNA, complete cds
    24(a)
    1 → many
    X(6286453-6291732) WBGene00002976


    ENSEMBL Gene Tree for SVEP1 (if available)
    TreeFam Gene Tree for SVEP1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SVEP1 gene
    CSMD12  SELP2  C4BPA2  CR22  SELL2  CSMD32  CR1L2  APOH2  
    SELE2  CSMD22  CD462  CD552  CR12  
    6 SIMAP similar genes for SVEP1 using alignment to 3 protein entries:     SVEP1_HUMAN (see all proteins):
    NOTCH3    F9    C4BPA    DLK2    NOTCH2NL    DLK1

    Find genes that share paralogs with SVEP1           About GenesLikeMe



    (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 SVEP1 (see all 5179)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs558317591,2
    C--82872809(+) AAAAA-/A/AA  
            
    GAAAG
    1 -- int11NA 2
    rs78556151,2
    C,F,H--113127040(+) ATACAA/TATTCC 1 -- ds500111Minor allele frequency- T:0.23NS EA NA WA CSA 666
    rs1918291221,2
    --113127159(+) TGGGGA/CTGTAT 1 -- ds50010--------
    rs109803451,2
    C,F,A,H--113127180(+) TTTCTT/CTTTGA 1 -- ds500110Minor allele frequency- C:0.15NS EA NA WA 756
    rs123401741,2
    C,F,H--113127215(+) tggtgC/Agatct 1 -- ds50016Minor allele frequency- A:0.07NS EA WA NA 508
    rs1847722211,2
    --113127226(+) GGGCTC/TACTGC 1 -- ds50010--------
    rs1879265521,2
    --113127237(+) AGCCTC/TGACCT 1 -- ds50010--------
    rs1931973231,2
    --113127280(+) CCCCAA/GGTAGC 1 -- ds50010--------
    rs21488741,2
    C,H--113127466(+) GCATCG/ACACCC 1 -- ds500116Minor allele frequency- A:0.02NS EA NA WA CSA 761
    rs1499547991,2
    C--113127471(+) ACACCC/TGGCTT 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for SVEP1 (113127528 - 113342160 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for SVEP1 (see all 17):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2738926CNV Deletion23290073
    esv2738924CNV Deletion23290073
    dgv1321e201CNV Deletion23290073
    esv268756CNV Insertion20981092
    nsv516479CNV Loss19592680
    nsv416225CNV Loss16902084
    nsv521593CNV Loss19592680
    esv27004CNV Loss19812545
    nsv893716CNV Loss21882294
    nsv466484CNV Loss19166990

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 611691    OMIM disorders: --

    1 disease for SVEP1:    
    About MalaCards
    breast cancer


    Find genes that share disorders with SVEP1           About GenesLikeMe

    Genetic Association Database (GAD): SVEP1
    Human Genome Epidemiology (HuGE) Navigator: SVEP1 (2 documents)

    Export disorders for SVEP1 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 SVEP1 gene, integrated from 10 sources (see all 22):
    (articles sorted by number of sources associating them with SVEP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Polydom: a secreted protein with pentraxin, complement control protein, epidermal growth factor and von Willebrand factor A domains. (PubMed id 11062057)1, 2, 9 Gilges D.... Vigon I. (Biochem. J. 2000)
    2. Genome-wide association study of lung function decline in adults with and without asthma. (PubMed id 22424883)1, 4 Imboden M....Probst-Hensch N.M. (J. Allergy Clin. Immunol. 2012)
    3. 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)
    4. Fine mapping of the 9q31 Hirschsprung's disease locus. (PubMed id 20361209)1, 4 Tang C.S....Garcia-BarcelA^ M.M. (Hum. Genet. 2010)
    5. Joint influence of small-effect genetic variants on human longevity. (PubMed id 20834067)1, 4 Yashin A.I....Ukraintseva S.V. (Aging (Albany NY) 2010)
    6. Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder. (PubMed id 18711365)1, 4 Ferreira M.A....Craddock N. (Nat. Genet. 2008)
    7. Molecular and cellular characterization of SEL-OB/SVEP1 in osteogenic cells in vivo and in vitro. (PubMed id 16206243)1, 2 Shur I.... Benayahu D. (J. Cell. Physiol. 2006)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    9. Exploring genome-wide - dietary heme iron intake interactions and the risk of type 2 diabetes. (PubMed id 23386860)1 Pasquale L.R....Hu F.B. (Front Genet 2013)
    10. Evaluation of various endothelial biomarkers in ankylosing spondylitis. (PubMed id 21556780)1 Taylan A....Akkoc N. (Clin. Rheumatol. 2012)

    (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)
    About This Section

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    Entrez Gene: 79987 HGNC: 15985 Ensembl:ENSG00000165124 euGenes: HUgn79987 ECgene: SVEP1
    H-InvDB: SVEP1

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (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 SVEP1 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 SVEP1 gene:
    Search GeneIP for patents involving SVEP1

    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, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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