SP7 Gene (Protein Coding)

Sp7 Transcription Factor

GC12M053326
GIFtS:
41
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... See more...

Aliases for SP7 Gene

Aliases for SP7 Gene

  • Sp7 Transcription Factor 2 3 5
  • OSX 2 3 4
  • Zinc Finger Protein Osterix 3 4
  • Transcription Factor Sp7 3 4
  • Osterix 2 3
  • OI11 3
  • OI12 3
  • SP7 5

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 Cells and Lineage-specific Markers. Gene Ontology (GO) annotations related to this gene include DEAD/H-box RNA helicase binding. An important paralog of this gene is SP9.

UniProtKB/Swiss-Prot Summary for SP7 Gene

  • Transcriptional activator essential for osteoblast differentiation (PubMed:23457570). 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 , Rfam classification and piRNA Summary for SP7 Gene

Genomics for SP7 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for SP7 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH12J053344 Promoter/Enhancer 2 Ensembl ENCODE CraniofacialAtlas dbSUPER 617.4 -0.1 -96 2.4 HNRNPL CTCF PRDM10 LEF1 KDM1A ZNF692 LARP7 PRDM1 ZNF143 ZIC2 SP7 SP1 ZNF740 ESPL1 HNRNPA1 PCBP2 ENSG00000258344 ATF7 EIF4B AAAS
GH12J053335 Promoter/Enhancer 1 EPDnew Ensembl CraniofacialAtlas 600.4 +9.3 9288 0.8 OSR2 EZH2 SP7 SP1 AAAS
GH12J053378 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 12.9 -36.2 -36248 6.9 SP1 CREB1 CTCF ZBTB33 HNRNPL ARID3A ATF7 PRDM10 ZNF629 TFE3 SP1 NONHSAG011234.2 piR-32705 piR-50444-079 AAAS PRR13 HOXC8 HOXC9 ENSG00000258086 AMHR2
GH12J053320 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas 12.3 +21.9 21914 6.4 SP1 HNRNPL CREB1 GATAD2A CTCF PRDM10 ZNF629 REST TFE3 RFX1 AAAS lnc-SP7-1 piR-45394 piR-40339 ESPL1 ZNF740 HNRNPA1 TARBP2 NPFF MAP3K12
GH12J053338 Enhancer 0.8 Ensembl CraniofacialAtlas 17.3 +6.9 6914 1.6 ZNF184 EGR1 ZKSCAN1 CTBP1 ZNF444 ZNF592 NCOR1 ZFHX2 NR2F1 NONO SP7 AAAS AMHR2 MYG1 PFDN5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SP7 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SP7

Top Transcription factor binding sites by QIAGEN in the SP7 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • MIF-1
  • MyoD
  • NF-kappaB1
  • PPAR-gamma1
  • PPAR-gamma2
  • Sox9

Genomic Locations for SP7 Gene

Genomic Locations for SP7 Gene
chr12:53,326,575-53,345,315
(GRCh38/hg38)
Size:
18,741 bases
Orientation:
Minus strand
chr12:53,720,359-53,739,099
(GRCh37/hg19)
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 Structure • Gene Density

RefSeq DNA sequence for SP7 Gene

Proteins for SP7 Gene

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  1. Antibody
  2. Protein
  3. Assay

  • 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 RIOX1; the interaction is direct and inhibits transcription activator activity.
    Miscellaneous:
    • [Isoform 2]: Generally expressed at much higher level than isoform 1.

    Alternative splice isoforms for SP7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SP7 Gene

Protein Expression for SP7 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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.
  • Propionylated. Depropionylation at Lys-371 by SIRT7 activates transcription factor activity and positively regulates bone formation by osteoblasts.
  • Ubiquitination at Lys58 and Lys230
  • Modification sites at PhosphoSitePlus

Other Protein References for SP7 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SP7 Gene

Domains & Families for SP7 Gene

Gene Families for SP7 Gene

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

Protein Domains for SP7 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SP7 Gene

GenScript: Design optimal peptide antigens:
  • Zinc finger protein osterix (SP7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8TDD2

UniProtKB/Swiss-Prot:

SP7_HUMAN :
  • The 9aaTAD motif is a transactivation domain present in a large number of yeast and animal transcription factors.
  • Belongs to the Sp1 C2H2-type zinc-finger protein family.
Domain:
  • The 9aaTAD motif is a transactivation domain present in a large number of yeast and animal transcription factors.
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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for SP7 Gene

UniProtKB/Swiss-Prot Function:
Transcriptional activator essential for osteoblast differentiation (PubMed:23457570). 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:0000976 transcription regulatory region sequence-specific DNA binding IBA 21873635
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA --
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISA --
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific ISS --
GO:0003676 nucleic acid 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:
  • Sp7 Sp7<tm1Crm>
  • Sp7 Sp7<tm1.1Rnis>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SP7

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

Nucleus.

Subcellular locations from

COMPARTMENTS
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 3
cytosol 3
plasma membrane 2
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SP7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus IBA,IDA 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

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

Pathways by source for SP7 Gene

1 R&D Systems pathway for SP7 Gene

SIGNOR curated interactions for SP7 Gene

Activates:
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:0006357 regulation of transcription by RNA polymerase II ISS 11792318
GO:0045944 positive regulation of transcription by RNA polymerase II 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

Products:

  1. Drug

(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

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for SP7 Gene

3 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SP7

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
SP7

Expression for SP7 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SP7 Gene

mRNA expression in normal human tissues for SP7 Gene
mRNA expression by GTEx for SP7 GenemRNA expression by BioGPS 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 and MOPED for SP7 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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.

Evidence on tissue expression from TISSUES for SP7 Gene

  • Bone(3.6)
  • Muscle(3.2)
  • Bone marrow(2.9)
  • Kidney(2.8)
  • Heart(2.7)
  • Blood(2.7)
  • Nervous system(2.7)
  • Liver(2.6)
  • Intestine(2.3)
  • Skin(2.3)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cheek
  • chin
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • skull
  • tooth
Thorax:
  • chest wall
  • clavicle
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • biliary tract
  • kidney
  • liver
Pelvis:
  • pelvis
  • ureter
  • uterus
  • vagina
Limb:
  • 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
General:
  • 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
Chimpanzee
(Pan troglodytes)
 Mammalia SP7 30 31
  • 99.3 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia SP7 30 31
  • 90.72 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Sp7 30 17 31
  • 89.33 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Sp7 30
  • 88.55 (n)
Dog
(Canis familiaris)
 Mammalia SP7 30 31
  • 87.67 (n)
 OneToOne
Chicken
(Gallus gallus)
 Aves -- 31
  • 22 (a)
 ManyToMany
Lizard
(Anolis carolinensis)
 Reptilia SP7 31
  • 63 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia sp7 30
  • 58.56 (n)
Zebrafish
(Danio rerio)
 Actinopterygii sp7 30 31
  • 65.57 (n)
 OneToOne
Fruit Fly
(Drosophila melanogaster)
 Insecta Sp1 31
  • 22 (a)
 OneToMany
Species where no ortholog for SP7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for SP7: view image

Paralogs for SP7 Gene

Paralogs for SP7 Gene

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

  • SP7_HUMAN
  • F8VV67_HUMAN
genes like me logo Genes that share paralogs with SP7: view

Variants for SP7 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SP7 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
667626 Benign: not provided 53,329,584(-) G/A INTRON_VARIANT
724912 Likely Benign: not provided 53,335,641(-) C/T SYNONYMOUS_VARIANT,INTRON_VARIANT
731363 Likely Benign: not provided 53,329,374(-) G/A MISSENSE_VARIANT
738019 Likely Benign: not provided 53,329,265(-) G/A SYNONYMOUS_VARIANT
744269 Likely Benign: not provided 53,328,577(-) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for SP7 Gene

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

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

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

Disorder Aliases PubMed IDs
osteogenesis imperfecta, type xii
  • oi12
osteogenesis imperfecta, type iv
  • oi4
sclerosteosis 1
  • sost1
ankylosis
osteoporosis
  • bone mineral density quantitative trait locus; bmnd
- 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.

Additional Disease Information for SP7

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 23
  2. Expression of alternatively spliced isoforms of human Sp7 in osteoblast-like cells. (PMID: 14604442) Milona MA … Edgar AJ (BMC genomics 2003) 3 4 23
  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
  4. Characterization of Osterix protein stability and physiological role in osteoblast differentiation. (PMID: 23457570) Peng Y … Ma C (PloS one 2013) 3 4
  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

ExternalLinks

View latest publications for SP7 gene in Mastermind

Products for SP7 Gene

  • Signalway ELISA kits for SP7

Sources for SP7 Gene