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 • transcription factor activity, sequence-specific DNA binding Cellular component • nucleoplasm 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 • neuron 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: 140.5 – 140.51 Mb	Chr X: 60.89 – 60.89 Mb
PubMed search

Transcription factor SOX-3 is a protein that in humans is encoded by the SOX3 gene.^[1][2][1]

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.^[3] 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. ^{[2] [4]}

See also

• SOX genes

References

1. Woods KS, Cundall M, Turton J, Rizotti K, Mehta A, Palmer R, Wong J, Chong WK, Al-Zyoud M, El-Ali M, Otonkoski T, Martinez-Barbera JP, Thomas PQ, Robinson IC, Lovell-Badge R, Woodward KJ, Dattani MT (May 2005). "Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism". American Journal of Human Genetics 76 (5): 833–49. doi:10.1086/430134. PMC 1199372. PMID 15800844.
2. "Entrez Gene: SOX3 SRY (sex determining region Y)-box 3".
3. Bylund M, Andersson E, Novitch BG, Muhr J (Nov 2003). "Vertebrate neurogenesis is counteracted by Sox1-3 activity". Nature Neuroscience 6 (11): 1162–8. doi:10.1038/nn1131. PMID 14517545.
4. Barber, TM, Cheetham T, Ball SG (2004). "X-linked hypopituitarism: clinical and biochemical features of a rare cause of short stature". Endocrine Abstracts 7 (1): 248.

Further reading

• Kamachi Y, Uchikawa M, Kondoh H (Apr 2000). "Pairing SOX off: with partners in the regulation of embryonic development". Trends in Genetics 16 (4): 182–7. doi:10.1016/S0168-9525(99)01955-1. PMID 10729834.
• Bowles J, Schepers G, Koopman P (Nov 2000). "Phylogeny of the SOX family of developmental transcription factors based on sequence and structural indicators". Developmental Biology 227 (2): 239–55. doi:10.1006/dbio.2000.9883. PMID 11071752.
• Schepers GE, Teasdale RD, Koopman P (Aug 2002). "Twenty pairs of sox: extent, homology, and nomenclature of the mouse and human sox transcription factor gene families". Developmental Cell 3 (2): 167–70. doi:10.1016/S1534-5807(02)00223-X. PMID 12194848.
• Denny P, Swift S, Brand N, Dabhade N, Barton P, Ashworth A (Jun 1992). "A conserved family of genes related to the testis determining gene, SRY". Nucleic Acids Research 20 (11): 2887. doi:10.1093/nar/20.11.2887. PMC 336939. PMID 1614875.
• Stevanović M, Lovell-Badge R, Collignon J, Goodfellow PN (Dec 1993). "SOX3 is an X-linked gene related to SRY". Human Molecular Genetics 2 (12): 2013–8. doi:10.1093/hmg/2.12.2013. PMID 8111369.
• Collignon J, Sockanathan S, Hacker A, Cohen-Tannoudji M, Norris D, Rastan S, Stevanovic M, Goodfellow PN, Lovell-Badge R (Feb 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.
• Laumonnier F, Ronce N, Hamel BC, Thomas P, Lespinasse J, Raynaud M, Paringaux C, Van Bokhoven H, Kalscheuer V, Fryns JP, Chelly J, Moraine C, Briault S (Dec 2002). "Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency". American Journal of Human Genetics 71 (6): 1450–5. doi:10.1086/344661. PMC 420004. PMID 12428212.
• Aota S, Nakajima N, Sakamoto R, Watanabe S, Ibaraki N, Okazaki K (May 2003). "Pax6 autoregulation mediated by direct interaction of Pax6 protein with the head surface ectoderm-specific enhancer of the mouse Pax6 gene". Developmental Biology 257 (1): 1–13. doi:10.1016/S0012-1606(03)00058-7. PMID 12710953.
• Weiss J, Meeks JJ, Hurley L, Raverot G, Frassetto A, Jameson JL (Nov 2003). "Sox3 is required for gonadal function, but not sex determination, in males and females". Molecular and Cellular Biology 23 (22): 8084–91. doi:10.1128/MCB.23.22.8084-8091.2003. PMC 262333. PMID 14585968.
• Dattani MT (Dec 2003). "Borjeson-Forssman-Lehmann syndrome: a novel pituitary phenotype due to mutation in a novel gene". Journal of Pediatric Endocrinology & Metabolism 16 (9): 1207–9. doi:10.1515/jpem.2003.16.9.1207. PMID 14714741.
• Raverot G, Lejeune H, Kotlar T, Pugeat M, Jameson JL (Aug 2004). "X-linked sex-determining region Y box 3 (SOX3) gene mutations are uncommon in men with idiopathic oligoazoospermic infertility". The Journal of Clinical Endocrinology and Metabolism 89 (8): 4146–8. doi:10.1210/jc.2004-0191. PMID 15292361.
• Solomon NM, Ross SA, Morgan T, Belsky JL, Hol FA, Karnes PS, Hopwood NJ, Myers SE, Tan AS, Warne GL, Forrest SM, Thomas PQ (Sep 2004). "Array comparative genomic hybridisation analysis of boys with X linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3". Journal of Medical Genetics 41 (9): 669–78. doi:10.1136/jmg.2003.016949. PMC 1735898. PMID 15342697.
• Savare J, Bonneaud N, Girard F (Jun 2005). "SUMO represses transcriptional activity of the Drosophila SoxNeuro and human Sox3 central nervous system-specific transcription factors". Molecular Biology of the 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.