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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
  • Transcription Factor Sp7 3
  • 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 Iv. 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 SP8.

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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12F053344 1.1 ENCODE 17.5 -0.2 -191 2.2 HDGF PKNOX1 ARID4B SIN3A FEZF1 ZNF48 ZNF2 ZNF121 GLIS2 ZNF143 SP1 ZNF740 PFDN5 IGFBP6 ESPL1 SP7 ENSG00000257500 LOC105378250 MAP3K12 ENSG00000260470
GH12F053348 0.6 Ensembl ENCODE 17.4 -3.7 -3658 1.1 ZNF664 ZNF335 ZNF263 YY2 CEBPB SP1 ESPL1 SP7 ATP5G2
GH12F053378 1.1 ENCODE 12.9 -35.6 -35613 5.6 HDGF PKNOX1 ARNT CREB3L1 WRNIP1 SIN3A FEZF1 DMAP1 ZNF2 YY1 SP1 PRR13 AAAS HOXC8 HOXC9 MAP3K12 ENSG00000258086 AMHR2 SP7 HOXC5
GH12F053415 0.7 Ensembl ENCODE 12.4 -70.2 -70170 1.4 CTCF PKNOX1 TAL1 RAD21 SLC30A9 ZFHX2 NCOR1 ZBTB48 CREM EGR2 PRR13 PCBP2 SP7 AAAS MAP3K12 TARBP2 NPFF C12orf10 PFDN5 GC12M053411
GH12F053416 1.3 Ensembl ENCODE 12.4 -72.5 -72486 2.0 PKNOX1 MTA2 ZBTB2 JUNB TBX21 ZNF121 ZNF366 POLR2A ZNF512 IKZF1 AAAS SP1 SP7 MAP3K12 TARBP2 NPFF C12orf10 PFDN5 ATP5G2 GC12P053422
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

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
ENSR00000430825 315 1201 HDGF PKNOX1 ARID4B SIN3A FEZF1 ZNF48 ZNF2 GLIS2 ZNF143 DEK

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

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:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding ISS 11792318
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

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

Inhibitory RNA 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 5
cytosol 2
extracellular 2
cytoskeleton 1
endoplasmic reticulum 1
plasma membrane 1

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

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:0001649 osteoblast differentiation ISS 11792318
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of 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
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:

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and SAGE 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



NURSA nuclear receptor signaling pathways regulating expression of SP7 Gene:

SP7

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
chimpanzee
(Pan troglodytes)
Mammalia SP7 35 34
  • 99.3 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SP7 34 35
  • 90.72 (n)
mouse
(Mus musculus)
Mammalia Sp7 34 16 35
  • 89.33 (n)
rat
(Rattus norvegicus)
Mammalia Sp7 34
  • 88.55 (n)
dog
(Canis familiaris)
Mammalia SP7 34 35
  • 87.67 (n)
chicken
(Gallus gallus)
Aves -- 35
  • 22 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia SP7 35
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sp7 34
  • 58.56 (n)
zebrafish
(Danio rerio)
Actinopterygii sp7 34 35
  • 65.57 (n)
fruit fly
(Drosophila melanogaster)
Insecta Sp1 35
  • 22 (a)
OneToMany
Species where no ortholog for SP7 was found in the sources mined by GeneCards:
  • 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
rs542641721 Uncertain significance 53,329,379(+) GCTGC(C/T)GTCAG reference, synonymous-codon
rs113295055 Benign 53,328,578(+) TTCCG(C/T)AGCCC reference, synonymous-codon
rs137853893 untested 53,328,390(-) CCGGG(-/A)GAAGA reference, frameshift-variant
rs10747667 -- 53,329,584(+) GTGAG(A/G)GCTGG intron-variant
rs10747668 -- 53,343,677(+) AAAAT(C/T)GGAGG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv517066 CNV loss 19592680
nsv819634 CNV loss 19587683

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
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SP7

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

Disorders for SP7 Gene

MalaCards: The human disease database

(13) 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 12
osteogenesis imperfecta, type iv
  • osteogenesis imperfecta type 4
sp7-related osteogenesis imperfecta
osteogenesis imperfecta
  • brittle bone disease
ankylosis
- 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. Molecular cloning, structure, expression, and chromosomal localization of the human Osterix (SP7) gene. (PMID: 15474293) Gao Y. … Ganss B. (Gene 2004) 3 4 22 64
  2. Expression of alternatively spliced isoforms of human Sp7 in osteoblast-like cells. (PMID: 14604442) Milona M.-A. … Edgar A.J. (BMC Genomics 2003) 3 4 22 64
  3. 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 64
  4. Characterization of Osterix protein stability and physiological role in osteoblast differentiation. (PMID: 23457570) Peng Y. … Ma C. (PLoS ONE 2013) 3 4 64
  5. Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta. (PMID: 20579626) Lapunzina P. … Ruiz-Perez V.L. (Am. J. Hum. Genet. 2010) 3 4 64

Products for SP7 Gene

Sources for SP7 Gene

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