SOX3

SRY (sex determining region Y)-box 3
File:PBB Protein SOX3 image.jpg PDB rendering based on 1gt0.
Available structures PDB Ortholog search: Template:Homologene2PDBe PDBe, Template:Homologene2uniprot RCSB List of PDB id codes 1gt0​, 1o4x​
Identifiers
Symbols	SOX3 ; MRGH; SOXB
External IDs	Template:OMIM5 Template:MGI HomoloGene: 4118
Gene ontology Molecular function Template:GNF GO Cellular component Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
File:PBB GE SOX3 214633 at tn.png
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

SRY (sex determining region Y)-box 3, also known as SOX3, is a human gene.

This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. Mutations in this gene have been associated with X-linked mental retardation with growth hormone deficiency.

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. PMID 10729834.CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Multiple names: authors list (link)
• 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. PMID 12194848.CS1 maint: Multiple names: authors list (link)
• 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. PMID 1614875.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (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. PMID 8111369.CS1 maint: Multiple names: authors list (link)
• 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) CS1 maint: Multiple names: authors list (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. PMID 12428212.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (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. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (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. PMID 12710953.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (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. PMID 14585968.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (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. 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) CS1 maint: Multiple names: authors list (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. PMID 15342697.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (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. PMID 15489334.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (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. PMID 15772651.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (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. PMID 15788563.CS1 maint: Multiple names: authors list (link)
• Woods KS, Cundall M, Turton J; et al. (2005). "Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism". Am. J. Hum. Genet. 76 (5): 833–49. doi:10.1086/430134. PMID 15800844.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)

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.