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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. Gene Ontology (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

Additional gene information for SP7 Gene

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

Genomics for SP7 Gene

GeneHancer (GH) Regulatory Elements for SP7 Gene

Promoters and enhancers for SP7 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12I053344 Promoter/Enhancer 1.7 Ensembl ENCODE dbSUPER 567.5 -0.2 -190 2.2 HDGF PKNOX1 ARNT ARID4B SIN3A FEZF1 ZNF2 ZNF143 DEK SP3 SP7 SP1 ZNF740 ESPL1 HNRNPA1 PCBP2 ENSG00000258344 ATF7 EIF4B AAAS
GH12I053336 Promoter 0.6 EPDnew 550.4 +8.9 8907 0.1 OSR2 SP7 AAAS
GH12I053335 Promoter 0.5 EPDnew 550.4 +9.5 9487 0.1 SP7 AAAS
GH12I053378 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 12.9 -35.6 -35612 5.6 HDGF PKNOX1 FOXA2 SMAD1 ARNT NEUROD1 SIN3A FEZF1 DMAP1 ZNF2 SP1 PIR43704 PRR13 AAAS HOXC8 HOXC9 ENSG00000258086 AMHR2 SP7 HOXC5
GH12I053320 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 12.3 +23.9 23927 2.3 CLOCK FEZF1 DMAP1 YBX1 IRF4 YY1 ZNF213 E2F8 ZNF143 SP3 AAAS GC12M053328 GC12M053329 PIR38393 PIR33338 ESPL1 SP1 PCBP2 MAP3K12 ENSG00000258344
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SP7 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SP7 gene promoter:

Genomic Locations for SP7 Gene

Genomic Locations for SP7 Gene
18,741 bases
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:
    Recommended name:
    Transcription factor Sp7
    Protein Accession:
    Secondary Accessions:
    • B3KY26
    • Q3MJ72
    • Q7Z718

    Protein attributes for SP7 Gene

    431 amino acids
    Molecular mass:
    44994 Da
    Quaternary structure:
    • Interacts with RIOX1; the interaction is direct and inhibits transcription activator activity.

    Alternative splice isoforms for SP7 Gene


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 isoforms=258 and isoforms=2230
  • 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

Gene Families for SP7 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

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



  • Belongs to the Sp1 C2H2-type zinc-finger protein family.
  • Belongs to the Sp1 C2H2-type zinc-finger protein family.
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).

Phenotypes From GWAS Catalog for SP7 Gene

Gene Ontology (GO) - Molecular Function for SP7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA --
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding IBA --
GO:0001077 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding IEA --
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding ISS 11792318
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

Clone 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


Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SP7 gene
Compartment Confidence
nucleus 5
extracellular 2
cytosol 2
plasma membrane 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for SP7 Gene

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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SP7 Gene

Pathways & Interactions for SP7 Gene

No Data Available

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 by RNA polymerase II ISS 11792318
GO:0006366 transcription by RNA polymerase II IEA --
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

(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:

Clone Products

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

No ASD Table

Relevant External Links for SP7 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for SP7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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:


SOURCE GeneReport for Unigene cluster for SP7 Gene:


mRNA Expression by UniProt/SwissProt for SP7 Gene:

Tissue specificity: Restricted to bone-derived cell.

Evidence on tissue expression from TISSUES for SP7 Gene

  • Bone(3.5)
  • Muscle(2.6)
  • Bone marrow(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SP7 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • cheek
  • chin
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • skull
  • tooth
  • chest wall
  • clavicle
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • biliary tract
  • kidney
  • liver
  • pelvis
  • ureter
  • uterus
  • vagina
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
  • blood
  • blood vessel
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with SP7: view

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
(Pan troglodytes)
Mammalia SP7 33 34
  • 99.3 (n)
(Bos Taurus)
Mammalia SP7 33 34
  • 90.72 (n)
(Mus musculus)
Mammalia Sp7 33 16 34
  • 89.33 (n)
(Rattus norvegicus)
Mammalia Sp7 33
  • 88.55 (n)
(Canis familiaris)
Mammalia SP7 33 34
  • 87.67 (n)
(Gallus gallus)
Aves -- 34
  • 22 (a)
(Anolis carolinensis)
Reptilia SP7 34
  • 63 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia sp7 33
  • 58.56 (n)
(Danio rerio)
Actinopterygii sp7 33 34
  • 65.57 (n)
fruit fly
(Drosophila melanogaster)
Insecta Sp1 34
  • 22 (a)
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

Gene Tree for SP7 (if available)
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 Variation AA Info Type
rs1003057124 uncertain-significance, Osteogenesis Imperfecta, Recessive 53,326,894(-) C/A/G 3_prime_UTR_variant
rs113295055 benign, uncertain-significance, not specified, Osteogenesis Imperfecta, Recessive 53,328,578(-) C/T coding_sequence_variant, synonymous_variant
rs114074384 uncertain-significance, Osteogenesis Imperfecta, Recessive 53,327,772(-) G/A 3_prime_UTR_variant
rs116856142 likely-benign, Osteogenesis Imperfecta, Recessive 53,328,449(-) G/A coding_sequence_variant, synonymous_variant
rs140159335 likely-benign, Osteogenesis Imperfecta, Recessive 53,328,087(-) T/A 3_prime_UTR_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)

Additional Variant Information for SP7 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

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

Disorders for SP7 Gene

MalaCards: The human disease database

(15) MalaCards diseases for SP7 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search SP7 in MalaCards View complete list of genes associated with diseases


  • 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.

Additional Disease Information for SP7

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 58
  2. Expression of alternatively spliced isoforms of human Sp7 in osteoblast-like cells. (PMID: 14604442) Milona MA … Edgar AJ (BMC genomics 2003) 3 4 22 58
  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 58
  4. Characterization of Osterix protein stability and physiological role in osteoblast differentiation. (PMID: 23457570) Peng Y … Ma C (PloS one 2013) 3 4 58
  5. Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta. (PMID: 20579626) Lapunzina P … Ruiz-Perez VL (American journal of human genetics 2010) 3 4 58

Products for SP7 Gene

Sources for SP7 Gene

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