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

SP7 Gene

protein-coding   GIFtS: 53
GCID: GC12M053721

Sp7 transcription factor

 Explore 17 diseases affiliated with
SP7 via our new
 Human Malady Compendium 
Biological research products
for SP7
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Sp7 Transcription Factor1 2     OI112
OSX1 2 3     OI122
Osterix1     Transcription Factor Sp72
Zinc Finger Protein Osterix2 3     

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 GC12M050761


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SP7:
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)

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)


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.1  NT_029419.12  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for SP7

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 GC12M053721:  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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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)
Subcellular location: Nucleus (By similarity)
Secondary accessions: B3KY26 Q3MJ72

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8TDD2

  • SP7 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000443827   ENSP00000302812   ENSP00000441367   ENSP00000449355  

    Human Recombinant Protein Products: 
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    OriGene Protein Over-expression Lysate: SP7
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    GenScript Custom Purified and Recombinant Proteins Services for SP7
    Novus Biologicals SP7 Protein
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for SP7

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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


    SP7 for ontologies           About GeneDecksing



    SP7 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of SP7
    R&D Systems Antibodies for SP7 (Osterix/Sp7)
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    Uscn ELISAs and CLIAs for SP7


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    SP7 for domains           About GeneDecksing

    3 InterPro domains/families:
     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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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)

    miRNA
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    miRTarBase miRNAs that target SP7:
    hsa-mir-135b (MIRT004567)

    Browse 3'-UTR reporter clones for miRNA target validation
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SP7
    8/53 QIAGEN miScript miRNA 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:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SP7 (see all 7)
    OriGene shRNA RFP: SP7
    OriGene siRNA: SP7
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SP7

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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SP7 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SP7

    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding ISS11792318
    GO:0005515protein binding ----
    GO:0008270zinc ion binding IEA--
    GO:0017151DEAD/H-box RNA helicase binding ISS17303075


    SP7 for ontologies           About GeneDecksing


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


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SP7

    5/7 Interacting proteins for SP7 (Q8TDD23) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    C14orf169Q9H6W33I2D: score=1 
    DLX1P561773I2D: score=1 
    DLX2Q076873I2D: score=1 
    DLX4Q929883I2D: score=1 
    DLX5P561783I2D: score=1 
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001649osteoblast differentiation ISS11792318
    GO:0006351transcription, DNA-dependent 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 HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SP7 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SP7
    6 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about SP7 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
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    Browse 3'-UTR reporter clones for miRNA target validation
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SP7
    8/53 QIAGEN miScript miRNA 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:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SP7 (see all 7)
    OriGene shRNA RFP: SP7
    OriGene siRNA: SP7
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SP7
    Clone
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    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
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    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SP7
    Browse OriGene validated miRNA SYBR primer pairs
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SP7
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SP7

    Additional cDNA 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:

    NM_152860 AF466179 AF477981 AY150673 AA904781 AI798049 BX394280 BU727480 
    BM687008 AY150674 BX375418 AK128520 BM992111 BQ183701 BX369746 BI491740 
    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SP7 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CCCTTTGTGG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    SP7 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/35 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 35
    Tissue Anatomical Compartment CellCategory (developmental path)
    BoneAutopod PeriosteumEndochondral OsteoblastsBone
    BoneAutopod PeriosteumEndochondral OsteocytesBone
    BoneAutopod PeriosteumImmature Endochondral OsteoblastsBone
    BoneCaudal Endochondral BonesEndochondral OsteoblastsBone
    BoneCaudal Endochondral BonesEndochondral OsteocytesBone
    BoneCaudal Endochondral BonesEndochondral PreosteoblastsBone
    BoneCervical VertebraeEndochondral OsteoblastsBone
    BoneCervical VertebraeImmature Endochondral OsteoblastsBone
    BoneEndochondral Facial BonesEndochondral OsteoblastsBone
    BoneEndochondral Facial BonesEndochondral OsteocytesBone
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 4 LifeMap Cells 
    NameCategory
    Osteoblast-like cells grown in monolayer (Osteogenic different...)
    Osteoblast-like cells grown in a 3D culture system (Osteogenic different...)
    HyStem+TGF?3+GDF5-induced SK11 cells (HyStem+TGF?3+GDF5 in...)Bone, Cartilage
    HyStem+TGF?3+GDF5-induced 4D20.8 cells (HyStem+TGF?3+GDF5 in...)Bone, Cartilage

    See SP7 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SP7

    SOURCE GeneReport for Unigene cluster: Hs.209402

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

        SABiosciences Expression via Pathway-Focused PCR Array including SP7: 
              Osteogenesis in human mouse rat

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    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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for SP7 gene from 4/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    lizard
    (Anolis carolinensis)
    Reptilia SP76
    --
    --
    61(a)
    2(a)
    1 ↔ 1
    possible ortholog
    2(73704768-73706678)
    3(88021848-88042132)
    zebrafish
    (Danio rerio)
    Actinopterygii sp71 Sp7 transcription factor 62.92(n)
    64.79(a)
      405789  NM_212863.1  NP_998028.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG30656
    btd6
    buttonhead
    15(a)
    13(a)
    many ↔ many
    many ↔ many
    2R(19857830-19859756)
    X(9588221-9591606)
    worm
    (Caenorhabditis elegans)
    Secernentea sptf-26
    sptf-36
    (see all 3)
    Specificity Protein) Transcription Factor family m...
    Specificity Protein) Transcription Factor family m...
    (see all 3)
    35(a)
    19(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    II(8625678-8627570)
    I(13360664-13366877)


    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)
    About This Section
    Paralogs for SP7 gene
    SP42  SP32  SP82  SP52  SP22  KLF172  SP12  SP62  
    SP92  
    18/27 SIMAP similar genes for SP7 using alignment to 3 protein entries:     SP7_HUMAN (see all proteins) (see all similar genes):
    SP3    ZFS-5    ZNF78L1    KLF9    kr-znf3    ZNF
    DKFZp434J0650    ZFS-6    SP9    A-328A3.4    DKFZp686M04222    KLF16
    SP8    SP4    ZNF72    SP1    Sp1    ZNF697

    SP7 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/199 NCBI SNPs in SP7 are shown (see all 199    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1127782091,2
    --50762982(+) CAATAA/CATTAT 2 -- ut312Minor allele frequency- C:0.04CSA WA 120
    rs771215171,2
    --50763364(+) GGATGG/ACATGC 2 -- ut311Minor allele frequency- A:0.01WA 118
    rs773089561,2
    F,--50764863(+) AGAGGG/CTGGAG 2 -- int11Minor allele frequency- C:0.03WA 118
    rs1127902901,2
    C,--50765303(+) CTCGGC/ACTCCC 2 -- int11Minor allele frequency- A:0.50WA 2
    rs1143782621,2
    C,F,--50766279(+) GTGAGC/AACCTC 2 -- int11Minor allele frequency- A:0.04WA 118
    rs1145082491,2
    C,F,--50766292(+) GCTTTG/ATGGTG 2 -- int11Minor allele frequency- A:0.06WA 118
    rs1129481841,2
    --50766376(+) ACTAAG/AATACT 2 -- int12Minor allele frequency- A:0.04CSA WA 120
    rs772514851,2
    F--50766806(+) AAAAAG/AAAAGG 2 -- int12Minor allele frequency- A:0.50NA CSA 4
    rs740907501,2
    C,--50766918(+) CCTGGG/ATGAGG 2 -- int12Minor allele frequency- A:0.12WA 120
    rs1133184761,2
    F,--50767197(+) AATCCG/AAGAGG 2 -- int12Minor allele frequency- A:0.50CSA 4

    HapMap Linkage Disequilibrium report for SP7 (53720359 - 53739099 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for SP7: --
    Human Gene Mutation Database (HGMD): SP7

    Locus Specific Mutation Databases (LSDB): SP7

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat 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.)
    About This Section

    SP7 for disorders           About GeneDecksing

    OMIM gene information: 606633    OMIM disorders: --

    UniProtKB/Swiss-Prot: SP7_HUMAN, Q8TDD2
  • Defects in SP7 are the cause of osteogenesis imperfecta type 11 (OI11) [MIM:613849]. A connective tissue
  • disorder characterized by bone fragility, low bone mass, recurrent fractures, mild bone deformations, generalized
    osteoporosis, delayed teeth eruption, no dentinogenesis imperfecta, normal hearing, and white sclerae

    17 diseases for SP7:    About MalaCards
    spinal muscular atrophy    dentinogenesis imperfecta    osteogenesis imperfecta    myositis ossificans
    muscular atrophy    pfeiffer syndrome    osteochondrodysplasia    osteosclerosis
    ankylosis    osteoporosis    multiple myeloma    myositis
    osteosarcoma    myeloma    periodontitis    obesity
    neuronitis

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

    4 Novoseek 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)

    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)
    About This Section

    PubMed articles for SP7 gene, integrated from 9 sources (see all 115):
    (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. (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. (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. (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. (2010)
    5. 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. (2004)
    6. Expression of Osterix in mechanical stress-induced osteogenic differentiation of periodontal ligament cells in vitro. (PubMed id 18471237)1, 9 Zhao Y....Chen J. (2008)
    7. 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. (2008)
    8. Negative regulation of the osteoblast function in multiple myeloma through the repressor gene E4BP4 activated by malignant plasma cells. (PubMed id 18829486)1, 9 Silvestris F....Dammacco F. (2008)
    9. Osterix is a key target for mechanical signals in human thoracic ligament flavum cells. (PubMed id 17311298)1, 9 Fan D....Shang Y. (2007)
    10. Upregulation of Runx2 and Osterix during in vitro chondrogenesis of human adipose-derived stromal cells. (PubMed id 18482578)1, 9 Rich J.T....McAlinden A. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
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      Query String
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 121340 HGNC: 17321 AceView: SP7 Ensembl:ENSG00000170374 euGenes: HUgn121340
    ECgene: SP7 H-InvDB: SP7

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SP7 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for 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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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