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Aliases for SP7 Gene

Aliases for SP7 Gene

  • Sp7 Transcription Factor 2 3 5
  • 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 Osteogenesis Imperfecta, Type Xii and Osteogenesis Imperfecta, Type Xi. Among its related pathways are Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers. GO annotations related to this gene include DEAD/H-box RNA helicase binding. An important paralog of this gene is SP4.

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

Enhancers for SP7 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SP7 on UCSC Golden Path with GeneCards custom track

Promoters for SP7 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SP7 on UCSC Golden Path with GeneCards custom track

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

Genes around SP7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SP7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with SP7: view
genes like me logo Genes that share phenotypes with SP7: view

Human Phenotype Ontology for SP7 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SP7 Gene

MGI Knock Outs for SP7:

Animal Model 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 5
cytosol 2
extracellular 2
cytoskeleton 1
endoplasmic reticulum 1
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for SP7 Gene

Pathways & Interactions for SP7 Gene

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

Pathways by source for SP7 Gene

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:0045944 positive regulation of transcription from RNA polymerase II promoter IDA 18932205
GO:0060218 hematopoietic stem cell differentiation IDA 18932205
GO:2000738 positive regulation of stem cell differentiation IDA 18932205
genes like me logo Genes that share ontologies with SP7: view

Drugs & Compounds for SP7 Gene

(5) Drugs for SP7 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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:

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

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

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
rs2016266 -- 53,334,171(+) GCTAC(A/G)GGTAG intron-variant
rs7138938 -- 53,328,314(+) TCTCC(A/G)TGGGT reference, synonymous-codon
rs7139272 -- 53,328,344(+) TGGTC(A/G)CTTCG reference, synonymous-codon
rs7300623 -- 53,341,917(+) TAGCC(A/G)GGCGT intron-variant
rs7302350 -- 53,330,238(+) gacgc(A/G)gtttc 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: 28.9% 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

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

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

Disorder Aliases PubMed IDs
osteogenesis imperfecta, type xii
  • osteogenesis imperfecta type xii
opitz gbbb syndrome, type i
  • hypertelorism with esophageal abnormality and hypospadias
osteogenesis imperfecta, type xi
  • osteogenesis imperfecta type xi
bruck syndrome 1
  • osteogenesis imperfecta with congenital joint contractures
osteogenesis imperfecta, type iv
  • oi type iv
- elite association - COSMIC cancer census association via MalaCards
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. The novel zinc finger-containing transcription factor osterix is required for osteoblast differentiation and bone formation. (PMID: 11792318) Nakashima K. … de Crombrugghe B. (Cell 2002) 2 3 4 67
  2. Bone regulatory factors NFATc1 and Osterix in human calcific aortic valves. (PMID: 19019468) Alexopoulos A. … Papadaki H. (Int. J. Cardiol. 2010) 3 23
  3. Differentiation of human embryonic stem cells into osteogenic or hematopoietic lineages: a dose-dependent effect of osterix over-expression. (PMID: 18932205) KAorner E. … Wendel M. (J. Cell. Physiol. 2009) 3 23
  4. Expression of Osterix in mechanical stress-induced osteogenic differentiation of periodontal ligament cells in vitro. (PMID: 18471237) Zhao Y. … Chen J. (Eur. J. Oral Sci. 2008) 3 23
  5. Upregulation of Runx2 and Osterix during in vitro chondrogenesis of human adipose-derived stromal cells. (PMID: 18482578) Rich J.T. … McAlinden A. (Biochem. Biophys. Res. Commun. 2008) 3 23

Products for SP7 Gene

Sources for SP7 Gene

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