Sp7 transcription factor

SP7
Identifiers
Aliases	SP7, OI11, OI12, OSX, osterix, Sp7 transcription factor
External IDs	OMIM: 606633; MGI: 2153568; HomoloGene: 15607; GeneCards: SP7; OMA:SP7 - orthologs
Gene location (Human)
Chr.	Chromosome 12 (human)
End	53,345,315 bp
Gene location (Mouse)
Chr.	Chromosome 15 (mouse)
End	102,275,617 bp
RNA expression pattern
	Top expressed in
	gonad; ; tibia; ; testicle; ; trabecular bone; ; prefrontal cortex; ; C1 segment; ; Amygdala; ; Brodmann area 9; ; anterior cingulate cortex; ; right lobe of thyroid gland;
	Top expressed in
	dental pulp; ; body of femur; ; right ventricle; ; calvaria; ; molar; ; alveolar ridge; ; portion of substance of tooth; ; radice; ; gastrula; ; tibiofemoral joint;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	nucleic acid binding; RNA polymerase II cis-regulatory region sequence-specific DNA binding; DNA-binding transcription activator activity, RNA polymerase II-specific; DNA binding; DEAD/H-box RNA helicase binding; metal ion binding; DNA-binding transcription factor activity, RNA polymerase II-specific;
Cellular component	nucleus; cytoplasm;
Biological process	osteoblast differentiation; transcription, DNA-templated; regulation of transcription, DNA-templated; regulation of transcription by RNA polymerase II; transcription by RNA polymerase II; positive regulation of transcription by RNA polymerase II; hematopoietic stem cell differentiation; positive regulation of stem cell differentiation;
	Sources:Amigo / QuickGO
Orthologs
	121340
	170574
	ENSG00000170374
	ENSMUSG00000060284
	Q8TDD2
	Q8VI67
	NM_001173467; NM_001300837; NM_152860
	NM_130458; NM_001348205
	NP_001287766.1; NP_001166938; NP_001287766; NP_690599
	NP_569725; NP_001335134
	Wikidata
View/Edit Human	View/Edit Mouse

Transcription factor Sp7, also called Osterix (Osx), is a protein that in humans is encoded by the SP7 gene. It is a member of the Sp family of zinc-finger transcription factors It is highly conserved among bone-forming vertebrate species It plays a major role, along with Runx2 and Dlx5 in driving the differentiation of mesenchymal precursor cells into osteoblasts and eventually osteocytes. Sp7 also plays a regulatory role by inhibiting chondrocyte differentiation maintaining the balance between differentiation of mesenchymal precursor cells into ossified bone or cartilage. Mutations of this gene have been associated with multiple dysfunctional bone phenotypes in vertebrates. During development, a mouse embryo model with Sp7 expression knocked out had no formation of bone tissue. Through the use of GWAS studies, the Sp7 locus in humans has been strongly associated with bone mass density. In addition there is significant genetic evidence for its role in diseases such as Osteogenesis imperfecta (OI).