SOX3

SRY (sex determining region Y)-box 3
Identifiers
Symbols	SOX3 ; GHDX; MRGH; PHP; PHPX; SOXB
External IDs	OMIM: 313430 MGI: 98365 HomoloGene: 4118 GeneCards: SOX3 Gene
Gene ontology Molecular function • RNA polymerase II core promoter sequence-specific DNA binding • RNA polymerase II transcription corepressor activity • DNA binding Cellular component • nucleus Biological process • negative regulation of transcription from RNA polymerase II promoter • transcription, DNA-templated • central nervous system development • sensory organ development • sex determination • organ morphogenesis • hypothalamus development • pituitary gland development • negative regulation of neuron differentiation • spermatid differentiation • Sertoli cell development • face development Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	6658	20675
Ensembl	ENSG00000134595	ENSMUSG00000045179
UniProt	P41225	P53784
RefSeq (mRNA)	NM_005634	NM_009237
RefSeq (protein)	NP_005625	NP_033263
Location (UCSC)	Chr X: 139.59 – 139.59 Mb	Chr X: 60.89 – 60.89 Mb
PubMed search	[1]	[2]

Transcription factor SOX-3 is a protein that in humans is encoded by the SOX3 gene.

This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic brain development and in determination of cell fate. The encoded protein acts as a transcriptional activator. Mutations in this gene have been associated with X-linked hypopituitarism (XH) and X-linked mental retardation. Patients with XH are male, have short stature, exhibit a mild form of mental retardation and present pan-hypopituitarism.

See also

• SOX genes

Further reading

• Kamachi Y, Uchikawa M, Kondoh H (2000). "Pairing SOX off: with partners in the regulation of embryonic development.". Trends Genet. 16 (4): 182–7. doi:10.1016/S0168-9525(99)01955-1. PMID 10729834. 
• Bowles J, Schepers G, Koopman P (2001). "Phylogeny of the SOX family of developmental transcription factors based on sequence and structural indicators.". Dev. Biol. 227 (2): 239–55. doi:10.1006/dbio.2000.9883. PMID 11071752. 
• Schepers GE, Teasdale RD, Koopman P (2002). "Twenty pairs of sox: extent, homology, and nomenclature of the mouse and human sox transcription factor gene families.". Dev. Cell 3 (2): 167–70. doi:10.1016/S1534-5807(02)00223-X. PMID 12194848. 
• Denny P, Swift S, Brand N et al. (1992). "A conserved family of genes related to the testis determining gene, SRY.". Nucleic Acids Res. 20 (11): 2887. doi:10.1093/nar/20.11.2887. PMC 336939. PMID 1614875.  CS1 maint: Explicit use of et al. (link)
• Stevanović M, Lovell-Badge R, Collignon J, Goodfellow PN (1994). "SOX3 is an X-linked gene related to SRY.". Hum. Mol. Genet. 2 (12): 2013–8. doi:10.1093/hmg/2.12.2013. PMID 8111369. 
• Collignon J, Sockanathan S, Hacker A et al. (1996). "A comparison of the properties of Sox-3 with Sry and two related genes, Sox-1 and Sox-2.". Development 122 (2): 509–20. PMID 8625802.  CS1 maint: Explicit use of et al. (link)
• Laumonnier F, Ronce N, Hamel BC et al. (2003). "Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency.". Am. J. Hum. Genet. 71 (6): 1450–5. doi:10.1086/344661. PMC 420004. PMID 12428212.  CS1 maint: Explicit use of et al. (link)
• Strausberg RL, Feingold EA, Grouse LH et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.  CS1 maint: Explicit use of et al. (link)
• Aota S, Nakajima N, Sakamoto R et al. (2003). "Pax6 autoregulation mediated by direct interaction of Pax6 protein with the head surface ectoderm-specific enhancer of the mouse Pax6 gene.". Dev. Biol. 257 (1): 1–13. doi:10.1016/S0012-1606(03)00058-7. PMID 12710953.  CS1 maint: Explicit use of et al. (link)
• Weiss J, Meeks JJ, Hurley L et al. (2003). "Sox3 is required for gonadal function, but not sex determination, in males and females.". Mol. Cell. Biol. 23 (22): 8084–91. doi:10.1128/MCB.23.22.8084-8091.2003. PMC 262333. PMID 14585968.  CS1 maint: Explicit use of et al. (link)
• Dattani MT (2004). "Borjeson-Forssman-Lehmann syndrome: a novel pituitary phenotype due to mutation in a novel gene.". J. Pediatr. Endocrinol. Metab. 16 (9): 1207–9. doi:10.1515/jpem.2003.16.9.1207. PMID 14714741. 
• Raverot G, Lejeune H, Kotlar T et al. (2004). "X-linked sex-determining region Y box 3 (SOX3) gene mutations are uncommon in men with idiopathic oligoazoospermic infertility.". J. Clin. Endocrinol. Metab. 89 (8): 4146–8. doi:10.1210/jc.2004-0191. PMID 15292361.  CS1 maint: Explicit use of et al. (link)
• Solomon NM, Ross SA, Morgan T et al. (2005). "Array comparative genomic hybridisation analysis of boys with X linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3.". J. Med. Genet. 41 (9): 669–78. doi:10.1136/jmg.2003.016949. PMC 1735898. PMID 15342697.  CS1 maint: Explicit use of et al. (link)
• Gerhard DS, Wagner L, Feingold EA et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.  CS1 maint: Explicit use of et al. (link)
• Ross MT, Grafham DV, Coffey AJ et al. (2005). "The DNA sequence of the human X chromosome.". Nature 434 (7031): 325–37. doi:10.1038/nature03440. PMC 2665286. PMID 15772651.  CS1 maint: Explicit use of et al. (link)
• Savare J, Bonneaud N, Girard F (2005). "SUMO represses transcriptional activity of the Drosophila SoxNeuro and human Sox3 central nervous system-specific transcription factors.". Mol. Biol. Cell 16 (6): 2660–9. doi:10.1091/mbc.E04-12-1062. PMC 1142414. PMID 15788563. 

External links

• SOX3 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.