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SPON1 Gene

protein-coding   GIFtS: 57
GCID: GC11P013940

Spondin 1, Extracellular Matrix Protein

(Previous names: spondin 1, (f-spondin) extracellular matrix protein)
  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
Spondin 1, Extracellular Matrix Protein1 2     spondin-12
Spondin 1, (F-Spondin) Extracellular Matrix Protein1 2     F-spondin3
Vascular Smooth Muscle Cell Growth-Promoting Factor2 3     KIAA07623
VSGP/F-spondin2     VSGP3
f-spondin2     

External Ids:    HGNC: 112521   Entrez Gene: 104182   Ensembl: ENSG000001522687   OMIM: 6049895   UniProtKB: Q9HCB63   

Export aliases for SPON1 gene to outside databases

Previous GC identifers: GC11P015256 GC11P014734 GC11P014023 GC11P013948 GC11P013663


(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 SPON1 Gene:
SPON1 (spondin 1, extracellular matrix protein) is a protein-coding gene. Diseases associated with SPON1 include congenital disorder of glycosylation, and sleep apnea.

UniProtKB/Swiss-Prot: SPON1_HUMAN, Q9HCB6
Function: Cell adhesion protein that promotes the attachment of spinal cord and sensory neuron cells and the
outgrowth of neurites in vitro. May contribute to the growth and guidance of axons in both the spinal cord and
the PNS (By similarity). Major factor for vascular smooth muscle cell

Gene Wiki entry for SPON1 (Spondin 1) 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_000011.10  NC_018922.2  NT_009237.19  
Regulatory elements:
   Regulatory transcription factor binding sites in the SPON1 gene promoter:
         RP58   AML1a   POU3F2 (N-Oct-5a)   POU3F2 (N-Oct-5b)   Tal-1beta   LCR-F1   POU3F2   E47   C/EBPalpha   SRY   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSPON1 promoter sequence
   Search Chromatin IP Primers for SPON1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SPON1


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

Entrez Gene cytogenetic band: 11p15.2   Ensembl cytogenetic band:  11p15.2   HGNC cytogenetic band: 11p15.2

SPON1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SPON1 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P013940:  view genomic region     (about GC identifiers)

Start:
13,983,914 bp from pter      End:
14,289,656 bp from pter
Size:
305,743 bases      Orientation:
plus 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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: SPON1_HUMAN, Q9HCB6 (See protein sequence)
Recommended Name: Spondin-1 precursor  
Size: 807 amino acids; 90973 Da
Subunit: Binds to the central extracellular domain of APP and inhibits beta-secretase cleavage of APP (By
similarity)
4 PDB 3D structures from and Proteopedia for SPON1:
2ZOT (3D)        2ZOU (3D)        3COO (3D)        3Q13 (3D)    
Secondary accessions: A8K6W5 O94862 Q8NCD7 Q8WUR5

Explore the universe of human proteins at neXtProt for SPON1: NX_Q9HCB6

Explore proteomics data for SPON1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Thr192, Asn214, Trp448, Trp451, Trp507, Trp510, Trp564, Trp620, Trp623, Trp674,
                                 Asn681
  • Modification sites at PhosphoSitePlus

  • See SPON1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_006099.2  Reactome Protein details: Q9HCB6

    SPON1 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for SPON1
    OriGene Custom MassSpec
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    Novus Biologicals SPON1 Protein
    Novus Biologicals SPON1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SPON1

    SPON1 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    ThermoFisher Antibodies for SPON1
    LSBio Antibodies in human, mouse, rat for SPON1

    SPON1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for SPON1
    Cloud-Clone Corp. CLIAs for SPON1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR000884 Thrombospondin_1_rpt
     IPR009465 Spondin_N
     IPR002861 Reeler_dom

    Graphical View of Domain Structure for InterPro Entry Q9HCB6

    ProtoNet protein and cluster: Q9HCB6

    3 Blocks protein domains:
    IPB002861 Reeler region
    IPB008085 Thrombospondin type 1 repeat signature
    IPB009465 Spondin


    UniProtKB/Swiss-Prot: SPON1_HUMAN, Q9HCB6
    Similarity: Contains 1 reelin domain
    Similarity: Contains 1 spondin domain
    Similarity: Contains 6 TSP type-1 domains


    SPON1 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: SPON1_HUMAN, Q9HCB6
    Function: Cell adhesion protein that promotes the attachment of spinal cord and sensory neuron cells and the
    outgrowth of neurites in vitro. May contribute to the growth and guidance of axons in both the spinal cord and
    the PNS (By similarity). Major factor for vascular smooth muscle cell

         Genatlas biochemistry entry for SPON1:
    spondin 1 (f-spondin) extracellular matrix protein

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI14983046
         
    SPON1 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SPON1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SPON1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SPON1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SPON1

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat SPON1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SPON1 (see all 22):
    hsa-miR-4311 hsa-miR-4307 hsa-miR-218-1* hsa-miR-513c hsa-miR-624 hsa-miR-3190 hsa-miR-570 hsa-miR-9
    SwitchGear 3'UTR luciferase reporter plasmidSPON1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SPON1
    Predesigned siRNA for gene silencing in human, mouse, rat SPON1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for SPON1

    Clone
    Products:
         
    OriGene clones in human, mouse for SPON1 (see all 6)
    OriGene ORF clones in mouse, rat for SPON1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SPON1 (NM_006108)
    Sino Biological Human cDNA Clone for SPON1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SPON1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SPON1

    Cell Line
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    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPON1


    (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
    SPON1_HUMAN, Q9HCB6: Secreted, extracellular space, extracellular matrix (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular4
    plasma membrane2
    endoplasmic reticulum1
    golgi apparatus1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005578proteinaceous extracellular matrix IEA--
    GO:0005615extracellular space IDA--
    GO:0031012colocalizes with extracellular matrix ISS--

    SPON1 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 SPON1 About   (see all 13)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Apoptotic Pathways in Synovial Fibroblasts
    Mitochondrial Apoptosis0.85
    Rac1 Pathway0.65
    Cellular Apoptosis Pathway0.85
    Glioma Invasiveness0.64
    Apoptotic Pathways in Synovial Fibroblasts0.84
    Actin-Based Motility by Rho Family GTPases0.62
    p53 Mediated Apoptosis0.84
    ERK5 Signaling0.61
    2GPCR Pathway
    Ras Pathway0.73
    Breast Cancer Regulation by Stathmin10.58
    Paxillin Interactions0.73
    NFAT in Immune Response0.58
    GPCR Pathway0.62
    Estrogen Pathway0.55
    Pancreatic Adenocarcinoma0.59
    3Integrin Pathway
    FAK1 Signaling0.67
    UPA-UPAR Pathway0.56
    Integrin Pathway0.67
    Inhibition of Angiogenesis by TSP10.50
    GnRH Signaling0.56
    Transendothelial Migration of Leukocytes0.38
    4ERK Signaling
    Rho Family GTPases0.61
    Molecular Mechanisms of Cancer0.51
    ERK Signaling0.61
    ILK Signaling0.49
    MAPK Signaling0.58
    5Nanog in Mammalian ESC Pluripotency
    Nanog in Mammalian ESC Pluripotency0.61
    14-3-3 Induced Intracellular Signaling0.59
    GSK3 Signaling0.61
    eNOS Signaling0.48

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for SPON1 (see all 60)
        Nuclear Receptor Activation by Vitamin-A
    Paxillin Interactions
    Telomerase Components in Cell Signaling
    Mitochondrial Apoptosis
    Molecular Mechanisms of Cancer


    1 Reactome Pathway for SPON1
        O-glycosylation of TSR domain-containing proteins



    SPON1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SPON1
    Interactions:

        GeneGlobe Interaction Network for SPON1

    5 Interacting proteins for SPON1 (Q9HCB61, 2, 3) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    APPP05067-41EBI-2431846,EBI-302641 I2D: score=2 
    YIPF5Q969M33I2D: score=2 
    APLP1P516933I2D: score=1 
    APLP2Q064813I2D: score=1 
    --Q9WMX22MINT-7049881
    About this table

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

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

    SPON1 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 SPON1

    1 Novoseek inferred chemical compound relationship for SPON1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    vegf 27.9 4 11473366 (1), 12173346 (1), 17984117 (1)



    SPON1 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,
    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 SPON1 gene: 
    NM_006108.3  

    Unigene Cluster for SPON1:

    Spondin 1, extracellular matrix protein
    Hs.643864  [show with all ESTs]
    Unigene Representative Sequence: NM_006108
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000533633(processed_transcript) ENST00000526298(processed_transcript) ENST00000310358(processed_transcript)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat SPON1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SPON1 (see all 22):
    hsa-miR-4311 hsa-miR-4307 hsa-miR-218-1* hsa-miR-513c hsa-miR-624 hsa-miR-3190 hsa-miR-570 hsa-miR-9
    SwitchGear 3'UTR luciferase reporter plasmidSPON1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for SPON1
    Predesigned siRNA for gene silencing in human, mouse, rat SPON1
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SPON1 (NM_006108)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SPON1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SPON1
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for SPON1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SPON1
      QuantiTect SYBR Green Assays in human, mouse, rat SPON1
      QuantiFast Probe-based Assays in human, mouse, rat SPON1

    Additional mRNA sequence: 

    AB018305.2 AB051390.1 AK001584.1 AK074803.1 AK291780.1 BC019825.1 BC041974.1 BC136513.1 
    BC136563.1 

    7 DOTS entries:

    DT.87017050  DT.91949150  DT.120698756  DT.92433194  DT.120698737  DT.91728592  DT.92433184 

    Selected AceView cDNA sequences (see all 248):

    AK001584 BM671036 AI290045 AA055340 AA428038 AW572585 AA447735 AI423145 
    AI689608 BP374672 BM970741 CR601227 AI632660 BM679745 BX439110 AI700043 
    AI143661 Z41397 AB018305 AA449547 BM474366 N39444 BU729055 BQ632342 

    GeneLoc Exon Structure


    (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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    SPON1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACTCTTGTTG
    SPON1 Expression
    About this image


    SPON1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 14) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 5 entries
             Metencephalon
             Floor plate-like cells
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Medulla Oblongata
             N2/LSB/S/F8/CHIR-induced cells
     
     Epithelial Cells
             Limbal Basal Epithelial Cells Limbus Epithelium
     
     Eye (Sensory Organs)    fully expand to see all 4 entries
             Limbal Basal Epithelial Cells Limbus Epithelium
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Zeugopod Periosteum
             HyStem+TGFbeta3+GDF5-induced 7SMOO32 cells
    SPON1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SPON1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.643864

    UniProtKB/Swiss-Prot: SPON1_HUMAN, Q9HCB6
    Tissue specificity: Highest expression in lung, lower expression in brain, heart, kidney, liver and testis, and
    lowest expression in pancreas, skeletal muscle and ovary. Not expressed in spleen

        Custom PCR Arrays for SPON1
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    QuantiFast Probe-based Assays in human, mouse, rat SPON1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPON1

    (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 SPON1 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Spon11 , 5 spondin 1, (f-spondin) extracellular matrix protein1, 5 89.63(n)1
    96.28(a)1
      7 (59.25 cM)5
    2337441  NM_145584.21  NP_663559.11 
     1137659985 
    chicken
    (Gallus gallus)
    Aves SPON11 spondin 1, extracellular matrix protein 78.56(n)
    89.22(a)
      395657  NM_204851.1  NP_990182.1 
    African clawed frog
    (Xenopus laevis)
    Amphibia spon1-A2 spondin 1, (f-spondin) extracellular matrix protein 77.9(n)    L09123.1 
    zebrafish
    (Danio rerio)
    Actinopterygii spon1a2 spondin 1a 76.65(n)   58027  AB006086.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta fat-spondin3
    CG177391
    CG177391 32(a)
    (best of 4)3
    48.49(n)1
    38.53(a)1
      363331  NM_136913.21  NP_610757.11 


    ENSEMBL Gene Tree for SPON1 (if available)
    TreeFam Gene Tree for SPON1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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      --

    (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 SPON1 (see all 1303)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1456058911,2
    C--13983841(+) CATCTA/GTAAAG 1 -- us2k10--------
    rs717566871,2
    C--13984256(+) CTTGG-/GCTCA 
            
    CTCAG
    1 -- ut510--------
    rs1414828151,2
    C--13984734(+) CGGTCC/GCCGGA 1 -- int10--------
    rs50227761,2
    H--13988811(+) GCCTTC/TTGGAT 1 -- int14Minor allele frequency- T:0.00NS EA 420
    rs61442231,2
    C--13990783(+) AAAAA-/A/AA/AA
    AA
    /AAAAAA
    TTAGC
    2 -- int1 cds11NA 2
    rs724693221,2
    C--13991028(+) ATAAA-/AGAGGAA 1 -- int10--------
    rs1472895981,2
    C--13991563(+) GGCCCA/GAATCA 1 -- int10--------
    rs1117291431,2
    C--13994486(+) TTCCA-/TCTCTCT 1 -- int11Minor allele frequency- TC:0.50CSA 2
    rs1404478541,2
    C--13994503(+) CTCTCG/TGTCCC 1 -- int10--------
    rs1448662941,2
    C--13997011(+) AAAGAG/TGCAGT 1 -- int10--------

    HapMap Linkage Disequilibrium report for SPON1 (13983914 - 14233914 bp, first 250kb of SPON1)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for SPON1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2597158CNV Deletion19546169
    esv1173943CNV Deletion17803354
    esv2668036CNV Deletion23128226
    esv1763444CNV Insertion17803354
    esv29123CNV Loss19812545
    nsv897004CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SPON1
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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.)
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    OMIM gene information: 604989    OMIM disorders: --

    17 diseases for SPON1:    
    About MalaCards
    congenital disorder of glycosylation    sleep apnea    uterine fibroid    glioblastoma multiforme
    periodontitis    osteoarthritis    hypoxia    dementia
    hypertension    endotheliitis    alzheimer's disease    ovarian cancer
    adenocarcinoma    pancreatitis    neuronitis    breast cancer
    malaria


    SPON1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): SPON1
    Human Genome Epidemiology (HuGE) Navigator: SPON1 (1 document)

    Export disorders for SPON1 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 SPON1 gene, integrated from 10 sources (see all 58):
    (articles sorted by number of sources associating them with SPON1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 9872452)1, 2, 3 Nagase T.... Ohara O. (DNA Res. 1998)
    2. Isolation and characterization of vascular smooth muscle cell growth promoting factor from bovine ovarian follicular fluid and its cDNA cloning from bovine and human ovary. (PubMed id 11368520)1, 2, 9 Miyamoto K.... Minegishi T. (Arch. Biochem. Biophys. 2001)
    3. The crystal structure of the heparin-binding reelin-N domain of f- spondin. (PubMed id 18602404)1, 2, 9 Tan K.... Wang J.H. (J. Mol. Biol. 2008)
    4. A genome-wide association study of inflammatory biomarker changes in response to fenofibrate treatment in the Genetics of Lipid Lowering Drug and Diet Network. (PubMed id 22228203)1, 4 Aslibekyan S....Arnett D.K. (Pharmacogenet. Genomics 2012)
    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. (Mol. Med. 2010)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. 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)
    8. C-mannosylation and O-fucosylation of thrombospondin type 1 repeats. (PubMed id 12096136)1, 2 Gonzalez de Peredo A.... Hofsteenge J. (Mol. Cell. Proteomics 2002)
    9. Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PubMed id 12168954)1, 2 Nakajima D.... Nagase T. (DNA Res. 2002)
    10. F-spondin, a neuroregulatory protein, is up-regulated in osteoarthritis and regulates cartilage metabolism via TGF-beta activation. (PubMed id 18780763)1, 9 Attur M.G....Abramson S.B. (FASEB J. 2009)

    (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: 10418 HGNC: 11252 AceView: SPON1 Ensembl:ENSG00000152268 euGenes: HUgn10418
    ECgene: SPON1 H-InvDB: SPON1

    (According to HUGE)
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    HUGE: KIAA0762

    (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 SPON1 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 SPON1 gene:
    Search GeneIP for patents involving SPON1

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



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