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SP7 Gene

protein-coding   GIFtS: 53
GCID: GC12M053722

Sp7 Transcription Factor

  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
Sp7 Transcription Factor1 2     OI112
OSX2 3 5     osterix2
Zinc Finger Protein Osterix2 3     Transcription Factor Sp72
OI122 5     

External Ids:    HGNC: 173211   Entrez Gene: 1213402   Ensembl: ENSG000001703747   OMIM: 6066335   UniProtKB: Q8TDD23   

Export aliases for SP7 gene to outside databases

Previous GC identifers: GC12U990220 GC12P053775 GC12M053437 GC12M052006 GC12M053721 GC12M050761


(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 SP7 Gene:
This gene encodes a member of the Sp subfamily of Sp/XKLF transcription factors. Sp family proteins are
sequence-specific DNA-binding proteins characterized by an amino-terminal trans-activation domain and three
carboxy-terminal zinc finger motifs. This protein is a bone specific transcription factor and is required for
osteoblast differentiation and bone formation.(provided by RefSeq, Jul 2010)

GeneCards Summary for SP7 Gene:
SP7 (Sp7 transcription factor) is a protein-coding gene. Diseases associated with SP7 include myositis ossificans, and osteogenesis imperfecta type xii. GO annotations related to this gene include DEAD/H-box RNA helicase binding. An important paralog of this gene is KLF1.

UniProtKB/Swiss-Prot: SP7_HUMAN, Q8TDD2
Function: Transcriptional activator essential for osteoblast differentiation. Binds to SP1 and EKLF consensus
sequences and to other G/C-rich sequences (By similarity)

Gene Wiki entry for SP7 (Sp7 transcription factor) 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_000012.12  NT_029419.13  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SP7 gene promoter:
         AP-1   ATF-2   MyoD   MIF-1   PPAR-gamma1   Sox9   PPAR-gamma2   c-Jun   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSP7 promoter sequence
   Search Chromatin IP Primers for SP7

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SP7


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

Entrez Gene cytogenetic band: 12q13.13   Ensembl cytogenetic band:  12q13.13   HGNC cytogenetic band: 12q13.13

SP7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SP7 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M053722:  view genomic region     (about GC identifiers)

Start:
53,720,359 bp from pter      End:
53,739,099 bp from pter
Size:
18,741 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: SP7_HUMAN, Q8TDD2 (See protein sequence)
Recommended Name: Transcription factor Sp7  
Size: 431 amino acids; 44994 Da
Subunit: Interacts with NO66/C14orf169; the interaction is direct and inhibits transcription activator activity
(By similarity)
Secondary accessions: B3KY26 Q3MJ72 Q7Z718
Alternative splicing: 2 isoforms:  Q8TDD2-1   Q8TDD2-2   (Generally expressed at much higher level than isoform 1)

Explore the universe of human proteins at neXtProt for SP7: NX_Q8TDD2

Explore proteomics data for SP7 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SP7 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001166938.1  NP_690599.1  

    ENSEMBL proteins: 
     ENSP00000443827   ENSP00000302812   ENSP00000441367   ENSP00000449355  

    SP7 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Protein Over-expression Lysate for SP7
    OriGene Custom MassSpec
    OriGene Custom Protein Services for SP7
    GenScript Custom Purified and Recombinant Proteins Services for SP7
    Novus Biologicals SP7 Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

    SP7 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of SP7
    R&D Systems Antibodies for SP7 (Osterix/Sp7)
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for SP7
    Novus Biologicals SP7 Antibodies
    Abcam antibodies for SP7
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibodies for SP7
    LSBio Antibodies in human, mouse, rat for SP7

    SP7 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 SP7
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    SP: Specificity protein transcription factors
    ZNF: Zinc fingers, C2H2-type

    3 InterPro protein domains:
     IPR015880 Znf_C2H2-like
     IPR013087 Znf_C2H2/integrase_DNA-bd
     IPR007087 Znf_C2H2

    Graphical View of Domain Structure for InterPro Entry Q8TDD2

    ProtoNet protein and cluster: Q8TDD2

    UniProtKB/Swiss-Prot: SP7_HUMAN, Q8TDD2
    Similarity: Belongs to the Sp1 C2H2-type zinc-finger protein family
    Similarity: Contains 3 C2H2-type zinc fingers


    SP7 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: SP7_HUMAN, Q8TDD2
    Function: Transcriptional activator essential for osteoblast differentiation. Binds to SP1 and EKLF consensus
    sequences and to other G/C-rich sequences (By similarity)

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding ISS11792318
    GO:0005515protein binding ----
    GO:0017151DEAD/H-box RNA helicase binding ISS17303075
    GO:0046872metal ion binding IEA--
         
    SP7 for ontologies           About GeneDecksing


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Sp7):
     cellular  homeostasis/metabolism  limbs/digits/tail  mortality/aging  respiratory system 
     skeleton 

    SP7 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Sp7tm1.1Rnis for SP7

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SP7
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SP7

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SP7
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SP7

    miRNA
    Products:
        
    miRTarBase miRNAs that target SP7:
    hsa-mir-7-5p (MIRT025634), hsa-mir-135b-5p (MIRT004567)

    Block miRNA regulation of human, mouse, rat SP7 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SP7 (see all 53):
    hsa-miR-100* hsa-miR-607 hsa-miR-642a hsa-miR-513a-5p hsa-miR-486-3p hsa-miR-346 hsa-miR-4267 hsa-miR-124
    SwitchGear 3'UTR luciferase reporter plasmidSP7 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SP7
    Predesigned siRNA for gene silencing in human, mouse, rat SP7

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for SP7

    Clone
    Products:
         
    OriGene clones in human, mouse for SP7 (see all 10)
    OriGene ORF clones in mouse, rat for SP7
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): SP7 (NM_033340)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SP7
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SP7

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for SP7
    Browse ESI BIO Cell Lines and PureStem Progenitors for SP7 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SP7


    (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
    SP7_HUMAN, Q8TDD2: Nucleus (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus4
    extracellular3
    cytosol2
    plasma membrane1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA18471237
    GO:0005737cytoplasm IDA18471237

    SP7 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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        Pathway & Disease-focused RT2 Profiler PCR Array including SP7: 
              Osteogenesis in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for SP7

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    Selected Interacting proteins for SP7 (Q8TDD23 ENSP000003028124) via UniProtKB, MINT, STRING, and/or I2D (see all 15)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DLX4Q929883, ENSP000002403064I2D: score=1 STRING: ENSP00000240306
    DLX5P561783, ENSP000002225984I2D: score=1 STRING: ENSP00000222598
    HHEXQ030143, ENSP000002827284I2D: score=1 STRING: ENSP00000282728
    DLX2Q076873, ENSP000002341984I2D: score=1 STRING: ENSP00000234198
    DLX1P561773, ENSP000003544784I2D: score=1 STRING: ENSP00000354478
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001649osteoblast differentiation ISS11792318
    GO:0006351transcription, DNA-templated IEA--
    GO:0006357regulation of transcription from RNA polymerase II promoter ISS11792318
    GO:0045944positive regulation of transcription from RNA polymerase II promoter IDA18932205
    GO:0060218hematopoietic stem cell differentiation IDA18932205

    SP7 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 SP7

    6 Novoseek inferred chemical compound relationships for SP7 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    alizarin 73 1 18847334 (1)
    ascorbic acid 46.1 2 14648194 (1)
    dexamethasone 35.7 7 16949358 (4), 16479590 (1)
    vegf 5.67 1 19007861 (1)
    calcium 2.23 5 17113755 (1), 17518720 (1), 17081517 (1)
    zinc 0 3 15474293 (2), 15734992 (1)



    SP7 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 SP7 gene (2 alternative transcripts): 
    NM_001173467.1  NM_152860.1  

    Unigene Cluster for SP7:

    Sp7 transcription factor
    Hs.209402  [show with all ESTs]
    Unigene Representative Sequence: AK128520
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000536324(uc001scv.3 uc001scu.3) ENST00000303846(uc001sct.3)
    ENST00000537210 ENST00000547755
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat SP7 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SP7 (see all 53):
    hsa-miR-100* hsa-miR-607 hsa-miR-642a hsa-miR-513a-5p hsa-miR-486-3p hsa-miR-346 hsa-miR-4267 hsa-miR-124
    SwitchGear 3'UTR luciferase reporter plasmidSP7 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for SP7
    Predesigned siRNA for gene silencing in human, mouse, rat SP7
    Clone
    Products:
         
    OriGene clones in human, mouse for SP7 (see all 10)
    OriGene ORF clones in mouse, rat for SP7
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): SP7 (NM_033340)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SP7
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SP7
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for SP7
    OriGene qSTAR qPCR primer pairs in human, mouse for SP7
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SP7
      QuantiTect SYBR Green Assays in human, mouse, rat SP7
      QuantiFast Probe-based Assays in human, mouse, rat SP7

    Additional mRNA sequence: 

    AF466179.1 AF477981.1 AK128520.1 AY150673.1 AY150674.1 BC101549.1 BC113613.1 

    3 DOTS entries:

    DT.101978037  DT.100017868  DT.97791107 

    17 AceView cDNA sequences:

    AY150673 AF466179 AA904781 NM_152860 AF477981 BX394280 BU727480 AK128520 
    BM687008 BQ183701 AI798049 AY150674 BM992111 BX375418 BI491740 BX369746 
    AW020776 

    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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    SP7 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCCTTTGTGG
    SP7 Expression
    About this image


    SP7 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 37 entries
             Endochondral Preosteoblasts Caudal Endochondral Bones
             Zeugopod Growth Plate
             HyStem+TGFbeta3+GDF5-induced SK11 cells
             bone marrow   
     
     Cartilage (Muscoskeletal System)    fully expand to see all 5 entries
             Condylar Condensation Cells Temporomandibular Joint
             HyStem+TGFbeta3+GDF5-induced SK11 cells
     
     Blood (Cardiovascular System)
             bone marrow   
     
     Brain (Nervous System)
             Myelinating Oligodendrocyte Cells Forebrain White Matter
    SP7 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SP7 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.209402

    UniProtKB/Swiss-Prot: SP7_HUMAN, Q8TDD2
    Tissue specificity: Restricted to bone-derived cell

        Pathway & Disease-focused RT2 Profiler PCR Array including SP7: 
              Osteogenesis in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for SP7
    OriGene qSTAR qPCR primer pairs in human, mouse for SP7
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SP7
    QuantiTect SYBR Green Assays in human, mouse, rat SP7
    QuantiFast Probe-based Assays in human, mouse, rat SP7
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SP7

    (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 SP7 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sp71 , 5 Sp7 transcription factor 71, 5 89.33(n)1
    95.33(a)1
      15 (57.51 cM)5
    1705741  NM_130458.31  NP_569725.11 
     1023571775 
    chicken
    (Gallus gallus)
    Aves --
    Uncharacterized protein
    22(a)
    many ↔ many
    26(2159753-2162378)
    lizard
    (Anolis carolinensis)
    Reptilia SP76
    Sp7 transcription factor
    63(a)
    1 ↔ 1
    2(73704768-73706678)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia sp71 Sp7 transcription factor 58.56(n)
    60.55(a)
      100189548  NM_001135118.1  NP_001128590.1 
    zebrafish
    (Danio rerio)
    Actinopterygii sp71 Sp7 transcription factor 65.57(n)
    69.4(a)
      405789  NM_212863.1  NP_998028.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Sp16
    Sp1
    22(a)
    1 → many
    X(9623681-9650237)


    ENSEMBL Gene Tree for SP7 (if available)
    TreeFam Gene Tree for SP7 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SP7 gene
    KLF12  SP82  KLF172  KLF52  KLF142  SP62  KLF152  KLF22  
    KLF72  KLF82  KLF132  SP42  KLF112  SP32  SP52  KLF62  
    SP22  KLF102  KLF42  SP12  KLF162  KLF122  KLF32  KLF92  
    SP92  
    8 SIMAP similar genes for SP7 using alignment to 2 protein entries:     SP7_HUMAN (see all proteins):
    KLF9    KLF16    SP9    SP8    SP4    ZNF697
    ZNF702P    ZNF844

    SP7 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 SP7 (see all 271)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs40205261,2
    C--50762244(-) AATAAATCAA/
            
    NNNNG
    2 -- ut311Minor allele frequency- -:0.00CSA 2
    rs108764321,2
    C,F,A,H--50773449(+) GGTCCA/GGAGGA 1 -- us2k1 trp316Minor allele frequency- G:0.26NS EA NA WA CSA 1658
    rs714552451,2
    C--50773463(+) GGAGGT/AGGAGG 1 -- us2k11Minor allele frequency- A:0.50NA 2
    rs1461734311,2
    C--53554728(+) GCAGGA/GGACAG 2 -- ut310--------
    rs1390223421,2
    --53554823(+) GGGTGA/GGGGTG 2 -- ut310--------
    rs1494918971,2
    --53554896(+) CAGGGC/TTTCTA 2 -- ut310--------
    rs1439504781,2
    C--53554930(+) TTGCAC/TAGAGT 2 -- ut310--------
    rs1996041501,2
    C--53554952(+) ACATAC/TTTATT 2 -- ut310--------
    rs718503491,2
    C--53554958(+) ATACT-/TTGAT 
            
    TATTT
    2 -- ut310--------
    rs40204781,2
    C--53554959(+) TACTTGATTT/
            
    ATTTG
    2 -- ut311Minor allele frequency- -:0.00NA 2

    HapMap Linkage Disequilibrium report for SP7 (53720359 - 53739099 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for SP7:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv517066CNV Loss19592680

    Human Gene Mutation Database (HGMD): SP7
    Locus Specific Mutation Databases (LSDB): SP7

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SP7
    DNA2.0 Custom Variant and Variant Library Synthesis for SP7

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606633   
    OMIM disorders: 613849  
    UniProtKB/Swiss-Prot: SP7_HUMAN, Q8TDD2
  • Osteogenesis imperfecta 12 (OI12) [MIM:613849]: A form of osteogenesis imperfecta, a connective tissue
    disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma.
    Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality.
    Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing
    loss, and blue sclerae. OI12 is an autosomal recessive form characterized by recurrent fractures, mild bone
    deformations, generalized osteoporosis, delayed teeth eruption, no dentinogenesis imperfecta, normal hearing, and
    white sclerae. Note=The disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for SP7 (see all 22):    
    About MalaCards
    myositis ossificans    osteogenesis imperfecta type xii    sp7-related osteogenesis imperfecta    osteogenesis imperfecta type xi
    osteogenesis imperfecta type 4    ankylosis    osteogenesis imperfecta    dentinogenesis imperfecta
    osteosclerosis    osteochondrodysplasia    myositis    osteosarcoma
    osteoporosis    spinal muscular atrophy    muscular atrophy    multiple myeloma
    periodontitis    myeloma    obesity    cervicitis

    2 diseases from the University of Copenhagen DISEASES database for SP7:
    Osteoporosis     Osteogenesis imperfecta

    SP7 for disorders           About GeneDecksing

    4 Novoseek inferred disease relationships for SP7 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    calcification 35.2 1 17081517 (1)
    osteosarcoma 29.8 3 15734992 (2), 14604442 (1)
    tumors 5.62 3 16410254 (1)
    osteoporosis 3.79 1 16410254 (1)

    Genetic Association Database (GAD): SP7
    Human Genome Epidemiology (HuGE) Navigator: SP7 (7 documents)

    Export disorders for SP7 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 SP7 gene, integrated from 10 sources (see all 122):
    (articles sorted by number of sources associating them with SP7)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The novel zinc finger-containing transcription factor osterix is required for osteoblast differentiation and bone formation. (PubMed id 11792318)1, 2, 3 Nakashima K....de Crombrugghe B. (Cell 2002)
    2. Molecular cloning, structure, expression, and chromosomal localization of the human Osterix (SP7) gene. (PubMed id 15474293)1, 2, 9 Gao Y.... Ganss B. (Gene 2004)
    3. Expression of alternatively spliced isoforms of human Sp7 in osteoblast-like cells. (PubMed id 14604442)1, 2, 9 Milona M.-A.... Edgar A.J. (BMC Genomics 2003)
    4. Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta. (PubMed id 20579626)1, 2 Lapunzina P....Ruiz-Perez V.L. (Am. J. Hum. Genet. 2010)
    5. Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies. (PubMed id 19801982)1, 4 Rivadeneira F....Uitterlinden A.G. (Nat. Genet. 2009)
    6. High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PubMed id 19453261)1, 4 Yerges L.M....Zmuda J.M. (J. Bone Miner. Res. 2009)
    7. New sequence variants associated with bone mineral density. (PubMed id 19079262)1, 4 Styrkarsdottir U....Stefansson K. (Nat. Genet. 2009)
    8. 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)
    9. Expression of Osterix in mechanical stress-induced osteogenic differentiation of periodontal ligament cells in vitro. (PubMed id 18471237)1, 9 Zhao Y....Chen J. (Eur. J. Oral Sci. 2008)
    10. Gene expression in normotopic and heterotopic human bone: increased level of SP7 mRNA in pathological tissue. (PubMed id 18777089)1, 9 Chauveau C....Devedjian J.C. (Mol. Cell. Biochem. 2008)

    (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: 121340 HGNC: 17321 AceView: SP7 Ensembl:ENSG00000170374 euGenes: HUgn121340
    ECgene: SP7 H-InvDB: SP7

    (According to HUGE)
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      --

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

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    NameDescription
    PharmGKB entry for SP7 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 SP7 gene:
    Search GeneIP for patents involving SP7

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



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