Sp7 transcription factor information

SP7
Identifiers
Aliases	SP7, OI11, OI12, OSX, osterix, Sp7 transcription factor
External IDs	OMIM: 606633 MGI: 2153568 HomoloGene: 15607 GeneCards: SP7
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
	tibia; ; trabecular bone; ; prefrontal cortex; ; amygdala; ; Brodmann area 9; ; right lobe of thyroid gland; ; putamen; ; caudate nucleus; ; hippocampus proper; ; nucleus accumbens;
	Top expressed in
	dental pulp; ; body of femur; ; right ventricle; ; calvaria; ; molar; ; alveolar ridge; ; fossa; ; condyle; ; urethra; ; male urethra;
	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.^[5] It is a member of the Sp family of zinc-finger transcription factors^[5] It is highly conserved among bone-forming vertebrate species^[6]^[7] It plays a major role, along with Runx2 and Dlx5 in driving the differentiation of mesenchymal precursor cells into osteoblasts and eventually osteocytes.^[8] Sp7 also plays a regulatory role by inhibiting chondrocyte differentiation maintaining the balance between differentiation of mesenchymal precursor cells into ossified bone or cartilage.^[9] 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.^[5] Through the use of GWAS studies, the Sp7 locus in humans has been strongly associated with bone mass density.^[10] In addition there is significant genetic evidence for its role in diseases such as Osteogenesis imperfecta (OI).^[11]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000170374 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000060284 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b ^c Nakashima K, Zhou X, Kunkel G, Zhang Z, Deng JM, Behringer RR, de Crombrugghe B (January 2002). "The novel zinc finger-containing transcription factor osterix is required for osteoblast differentiation and bone formation". Cell. 108 (1): 17–29. doi:10.1016/s0092-8674(01)00622-5. PMID 11792318. S2CID 14030684.
^ Renn J, Winkler C (January 2009). "Osterix-mCherry transgenic medaka for in vivo imaging of bone formation". Developmental Dynamics. 238 (1): 241–8. doi:10.1002/dvdy.21836. PMID 19097055. S2CID 34497572.
^ DeLaurier A, Eames BF, Blanco-Sánchez B, Peng G, He X, Swartz ME, et al. (August 2010). "Zebrafish sp7:EGFP: a transgenic for studying otic vesicle formation, skeletogenesis, and bone regeneration". Genesis. 48 (8): 505–11. doi:10.1002/dvg.20639. PMC 2926247. PMID 20506187.
^ Sinha KM, Zhou X (May 2013). "Genetic and molecular control of osterix in skeletal formation". Journal of Cellular Biochemistry. 114 (5): 975–84. doi:10.1002/jcb.24439. PMC 3725781. PMID 23225263.
^ Kaback LA, Soung D, Naik A, Smith N, Schwarz EM, O'Keefe RJ, et al. (January 2008). "Osterix/Sp7 regulates mesenchymal stem cell mediated endochondral ossification". Journal of Cellular Physiology. 214 (1): 173–82. doi:10.1002/jcp.21176. PMID 17579353. S2CID 39244842.
^ Timpson NJ, Tobias JH, Richards JB, Soranzo N, Duncan EL, Sims AM, et al. (April 2009). "Common variants in the region around Osterix are associated with bone mineral density and growth in childhood". Human Molecular Genetics. 18 (8): 1510–7. doi:10.1093/hmg/ddp052. PMC 2664147. PMID 19181680.
^ Lapunzina P, Aglan M, Temtamy S, Caparrós-Martín JA, Valencia M, Letón R, et al. (July 2010). "Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta". American Journal of Human Genetics. 87 (1): 110–4. doi:10.1016/j.ajhg.2010.05.016. PMC 2896769. PMID 20579626.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000170374 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000060284 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[Nakashima_2002-5] Nakashima K, Zhou X, Kunkel G, Zhang Z, Deng JM, Behringer RR, de Crombrugghe B (January 2002). "The novel zinc finger-containing transcription factor osterix is required for osteoblast differentiation and bone formation". Cell. 108 (1): 17–29. doi:10.1016/s0092-8674(01)00622-5. PMID 11792318. S2CID 14030684.

[Renn_2009-6] Renn J, Winkler C (January 2009). "Osterix-mCherry transgenic medaka for in vivo imaging of bone formation". Developmental Dynamics. 238 (1): 241–8. doi:10.1002/dvdy.21836. PMID 19097055. S2CID 34497572.

[7] DeLaurier A, Eames BF, Blanco-Sánchez B, Peng G, He X, Swartz ME, et al. (August 2010). "Zebrafish sp7:EGFP: a transgenic for studying otic vesicle formation, skeletogenesis, and bone regeneration". Genesis. 48 (8): 505–11. doi:10.1002/dvg.20639. PMC 2926247. PMID 20506187.

[Sinha_2013-8] Sinha KM, Zhou X (May 2013). "Genetic and molecular control of osterix in skeletal formation". Journal of Cellular Biochemistry. 114 (5): 975–84. doi:10.1002/jcb.24439. PMC 3725781. PMID 23225263.

[Kaback_2008-9] Kaback LA, Soung D, Naik A, Smith N, Schwarz EM, O'Keefe RJ, et al. (January 2008). "Osterix/Sp7 regulates mesenchymal stem cell mediated endochondral ossification". Journal of Cellular Physiology. 214 (1): 173–82. doi:10.1002/jcp.21176. PMID 17579353. S2CID 39244842.

[Timpson_2009-10] Timpson NJ, Tobias JH, Richards JB, Soranzo N, Duncan EL, Sims AM, et al. (April 2009). "Common variants in the region around Osterix are associated with bone mineral density and growth in childhood". Human Molecular Genetics. 18 (8): 1510–7. doi:10.1093/hmg/ddp052. PMC 2664147. PMID 19181680.

[Lapunzina_2010-11] Lapunzina P, Aglan M, Temtamy S, Caparrós-Martín JA, Valencia M, Letón R, et al. (July 2010). "Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta". American Journal of Human Genetics. 87 (1): 110–4. doi:10.1016/j.ajhg.2010.05.016. PMC 2896769. PMID 20579626.

Sp7 transcription factor information

and 7 Related for: Sp7 transcription factor information

Sp7 transcription factor

SP7

List of human transcription factors

Osteoblast

RUNX2

DLX5

Zebrafish