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Aliases for SP7 Gene

Aliases for SP7 Gene

  • Sp7 Transcription Factor 2 3
  • Zinc Finger Protein Osterix 3 4
  • OSX 3 4
  • Osterix 3
  • OI11 3
  • OI12 3

External Ids for SP7 Gene

Previous GeneCards Identifiers for SP7 Gene

  • GC12U990220
  • GC12P053775
  • GC12M053437
  • GC12M052006
  • GC12M053721
  • GC12M050761
  • GC12M053722

Summaries for SP7 Gene

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 sp7-related osteogenesis imperfecta 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 KLF2.

UniProtKB/Swiss-Prot for SP7 Gene

  • 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 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SP7 Gene

Genomics for SP7 Gene

Regulatory Elements for SP7 Gene

Genomic Location for SP7 Gene

Chromosome:
12
Start:
53,326,575 bp from pter
End:
53,345,315 bp from pter
Size:
18,741 bases
Orientation:
Minus strand

Genomic View for SP7 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SP7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SP7 Gene

Proteins for SP7 Gene

  • Protein details for SP7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TDD2-SP7_HUMAN
    Recommended name:
    Transcription factor Sp7
    Protein Accession:
    Q8TDD2
    Secondary Accessions:
    • B3KY26
    • Q3MJ72
    • Q7Z718

    Protein attributes for SP7 Gene

    Size:
    431 amino acids
    Molecular mass:
    44994 Da
    Quaternary structure:
    • Interacts with NO66/C14orf169; the interaction is direct and inhibits transcription activator activity.

    Alternative splice isoforms for SP7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SP7 Gene

Proteomics data for SP7 Gene at MOPED

Post-translational modifications for SP7 Gene

  • Ubiquitination at leads to proteasomal degradation. SP7 is a short-live protein with an endogenous half-life of approximately 12 hours.
  • Ubiquitination at Lys 58 and Lys 230
  • Modification sites at PhosphoSitePlus

Other Protein References for SP7 Gene

Antibody Products

No data available for DME Specific Peptides for SP7 Gene

Domains & Families for SP7 Gene

Protein Domains for SP7 Gene

Suggested Antigen Peptide Sequences for SP7 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8TDD2

UniProtKB/Swiss-Prot:

SP7_HUMAN :
  • Belongs to the Sp1 C2H2-type zinc-finger protein family.
  • Contains 3 C2H2-type zinc fingers.
Family:
  • Belongs to the Sp1 C2H2-type zinc-finger protein family.
Similarity:
  • Contains 3 C2H2-type zinc fingers.
genes like me logo Genes that share domains with SP7: view

Function for SP7 Gene

Molecular function for SP7 Gene

UniProtKB/Swiss-Prot 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) - Molecular Function for SP7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding ISS 11792318
GO:0005515 protein binding --
GO:0017151 DEAD/H-box RNA helicase binding ISS 17303075
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with SP7: view
genes like me logo Genes that share phenotypes with SP7: view

Animal Models for SP7 Gene

MGI Knock Outs for SP7:
  • Sp7 tm1.1Rnis

Animal Model Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SP7

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SP7 Gene

Localization for SP7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SP7 Gene

Nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SP7 Gene COMPARTMENTS Subcellular localization image for SP7 gene
Compartment Confidence
nucleus 4
extracellular 2
plasma membrane 2

Gene Ontology (GO) - Cellular Components for SP7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 18471237
GO:0005737 cytoplasm IDA 18471237
genes like me logo Genes that share ontologies with SP7: view

Pathways & Interactions for SP7 Gene

SuperPathways for SP7 Gene

No Data Available

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

SIGNOR curated interactions for SP7 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for SP7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001649 osteoblast differentiation ISS 11792318
GO:0006351 transcription, DNA-templated IEA --
GO:0006357 regulation of transcription from RNA polymerase II promoter ISS 11792318
GO:0045944 positive regulation of transcription from RNA polymerase II promoter IDA 18932205
GO:0060218 hematopoietic stem cell differentiation IDA 18932205
genes like me logo Genes that share ontologies with SP7: view

No data available for Pathways by source for SP7 Gene

Drugs & Compounds for SP7 Gene

(5) Drugs for SP7 Gene - From: NovoSeek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dexamethasone Approved, Investigational Pharma Agonist 1806
Zinc Approved Pharma 1404
Vitamin C Approved Nutra 398,398
Alizarin Pharma Biological stain 0
Calcium Nutra 0

(1) Additional Compounds for SP7 Gene - From: NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
VEGF
genes like me logo Genes that share compounds with SP7: view

Transcripts for SP7 Gene

Unigene Clusters for SP7 Gene

Sp7 transcription factor:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SP7

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SP7 Gene

No ASD Table

Relevant External Links for SP7 Gene

GeneLoc Exon Structure for
SP7
ECgene alternative splicing isoforms for
SP7

Expression for SP7 Gene

mRNA expression in normal human tissues for SP7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SP7 Gene

This gene is overexpressed in Testis (x8.7) and Brain - Spinal cord (cervical c-1) (x4.1).

Protein differential expression in normal tissues from HIPED for SP7 Gene

This gene is overexpressed in Breast (38.1), Bone (19.3), and Skin (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SP7 Gene



SOURCE GeneReport for Unigene cluster for SP7 Gene Hs.209402

mRNA Expression by UniProt/SwissProt for SP7 Gene

Q8TDD2-SP7_HUMAN
Tissue specificity: Restricted to bone-derived cell.
genes like me logo Genes that share expression patterns with SP7: view

Primer Products

In Situ Assay Products

No data available for Protein tissue co-expression partners for SP7 Gene

Orthologs for SP7 Gene

This gene was present in the common ancestor of animals.

Orthologs for SP7 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SP7 35
  • 90.72 (n)
  • 96.98 (a)
SP7 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SP7 35
  • 87.67 (n)
  • 91.63 (a)
SP7 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sp7 35
  • 89.33 (n)
  • 95.33 (a)
Sp7 16
Sp7 36
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SP7 35
  • 99.3 (n)
  • 99.54 (a)
SP7 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sp7 35
  • 88.55 (n)
  • 94.86 (a)
chicken
(Gallus gallus)
Aves -- 36
  • 22 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia SP7 36
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sp7 35
  • 58.56 (n)
  • 60.55 (a)
zebrafish
(Danio rerio)
Actinopterygii sp7 35
  • 65.57 (n)
  • 69.4 (a)
sp7 36
  • 60 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Sp1 36
  • 22 (a)
OneToMany
Species with no ortholog for SP7:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SP7 Gene

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

Paralogs for SP7 Gene

(8) SIMAP similar genes for SP7 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with SP7: view

Variants for SP7 Gene

Sequence variations from dbSNP and Humsavar for SP7 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs368740272 -- 53,341,181(+) GCTAG(G/T)TCTCC intron-variant
rs368819365 -- 53,328,951(+) TGCCT(C/T)CAGGG missense, reference
rs368941248 -- 53,332,123(+) TGGCA(A/G)GGTAG intron-variant
rs369100952 -- 53,337,037(+) GGTGG(C/T)GGTAG upstream-variant-2KB, intron-variant
rs369330350 -- 53,336,986(+) CAGAA(A/C/T)CTGGA upstream-variant-2KB, intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SP7 Gene

Variant ID Type Subtype PubMed ID
nsv517066 CNV Loss 19592680

Variation tolerance for SP7 Gene

Residual Variation Intolerance Score: 28.88% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.09; 22.28% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SP7 Gene

HapMap Linkage Disequilibrium report
SP7
Human Gene Mutation Database (HGMD)
SP7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SP7 Gene

Disorders for SP7 Gene

MalaCards: The human disease database

(18) MalaCards diseases for SP7 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
sp7-related osteogenesis imperfecta
osteogenesis imperfecta, type xii
  • oi12
opitz gbbb syndrome, type i
  • opitz gbbb syndrome 1
osteogenesis imperfecta, type xi
  • oi type xi
bruck syndrome 1
  • arthrogryposis like disorder
- elite association
Search SP7 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SP7_HUMAN
  • 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. {ECO:0000269 PubMed:20579626}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SP7

Genetic Association Database (GAD)
SP7
Human Genome Epidemiology (HuGE) Navigator
SP7
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SP7
genes like me logo Genes that share disorders with SP7: view

No data available for Genatlas for SP7 Gene

Publications for SP7 Gene

  1. Bone regulatory factors NFATc1 and Osterix in human calcific aortic valves. (PMID: 19019468) Alexopoulos A. … Papadaki H. (Int. J. Cardiol. 2010) 23 67
  2. Ephrin B1 regulates bone marrow stromal cell differentiation and bone formation by influencing TAZ transactivation via complex formation with NHERF1. (PMID: 19995908) Xing W. … Mohan S. (Mol. Cell. Biol. 2010) 23 67
  3. Enhancement of bone regeneration by gene delivery of BMP2/Runx2 bicistronic vector into adipose-derived stromal cells. (PMID: 20413153) Lee S.J. … Lee S.H. (Biomaterials 2010) 23 67
  4. [Expression of Osterix mRNA and protein levels in cultured human periodontal ligament cells after mechanical stimulation]. (PMID: 20480672) Zhao Y.H. … Wei F.L. (Hua Xi Kou Qiang Yi Xue Za Zhi 2010) 23 67
  5. In vitro evaluation of freeze-dried bone allografts combined with platelet rich plasma and human bone marrow stromal cells for tissue engineering. (PMID: 18668210) Cenni E. … Baldini N. (J Mater Sci Mater Med 2009) 23 67

Products for SP7 Gene

Sources for SP7 Gene

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