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Gene Review

SOX3  -  SRY (sex determining region Y)-box 3

Homo sapiens

Synonyms: GHDX, MRGH, PHP, PHPX, SOXB, ...
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Disease relevance of SOX3


Psychiatry related information on SOX3


High impact information on SOX3


Chemical compound and disease context of SOX3


Biological context of SOX3


Anatomical context of SOX3


Associations of SOX3 with chemical compounds

  • The mutation results in an in-frame duplication of 33 bp encoding for 11 alanines in a polyalanine tract of the SOX3 gene [2].

Other interactions of SOX3

  • Next, we identified a novel seven-alanine expansion within a polyalanine tract in SOX3 in a family with panhypopituitarism in three male siblings with an absent infundibulum, severe APH, and EPP [1].
  • SOX3 is an X-linked gene related to SRY [3].
  • Perhaps the most interesting candidate for involvement in sexual development is SOX3, which belongs to the same family of proteins (SOX) as SRY and SOX9, both of which are involved in testis differentiation [11].
  • Evaluation of candidate genes CDR1 and SOX3 did not reveal mutations in affected male subjects [12].
  • We observed similar aggregates for expansion mutations in SOX3, RUNX2 and HOXA13, pointing to a common mechanism [13].

Analytical, diagnostic and therapeutic context of SOX3

  • Indeed, SOX3 expression was demonstrated, by in situ hybridization, in the developing parathyroid tissue of mouse embryos between 10.5 and 15.5 days post coitum [5].
  • Therefore, we screened the coding region and the 5' and 3' flanking region of the SOX3 gene for mutations by means of single-stranded conformation polymorphism and heteroduplex analysis in eight subjects with 46, XX sex reversal (SRY negative) and 25 subjects with 46, XY gonadal dysgenesis [11].
  • With PRINS, we physically localized the SRY gene to Yp11.31p11.32 and the SOX3 gene to Xq26q27 [14].
  • Comparative gene mapping and sequencing shows that SRY arose quite recently as a degraded version of the SOX3 gene on the X chromosome [15].
  • Sox3-null mice developed according to genetic sex, but the hemizygous null males were hypogonadal, with extensive Sertoli cell vacuo-lization, loss of germ cells, and reduced sperm count [4].


  1. Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism. Woods, K.S., Cundall, M., Turton, J., Rizotti, K., Mehta, A., Palmer, R., Wong, J., Chong, W.K., Al-Zyoud, M., El-Ali, M., Otonkoski, T., Martinez-Barbera, J.P., Thomas, P.Q., Robinson, I.C., Lovell-Badge, R., Woodward, K.J., Dattani, M.T. Am. J. Hum. Genet. (2005) [Pubmed]
  2. Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency. Laumonnier, F., Ronce, N., Hamel, B.C., Thomas, P., Lespinasse, J., Raynaud, M., Paringaux, C., Van Bokhoven, H., Kalscheuer, V., Fryns, J.P., Chelly, J., Moraine, C., Briault, S. Am. J. Hum. Genet. (2002) [Pubmed]
  3. SOX3 is an X-linked gene related to SRY. Stevanović, M., Lovell-Badge, R., Collignon, J., Goodfellow, P.N. Hum. Mol. Genet. (1993) [Pubmed]
  4. X-linked sex-determining region Y box 3 (SOX3) gene mutations are uncommon in men with idiopathic oligoazoospermic infertility. Raverot, G., Lejeune, H., Kotlar, T., Pugeat, M., Jameson, J.L. J. Clin. Endocrinol. Metab. (2004) [Pubmed]
  5. An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism. Bowl, M.R., Nesbit, M.A., Harding, B., Levy, E., Jefferson, A., Volpi, E., Rizzoti, K., Lovell-Badge, R., Schlessinger, D., Whyte, M.P., Thakker, R.V. J. Clin. Invest. (2005) [Pubmed]
  6. The novel gene asb11: a regulator of the size of the neural progenitor compartment. Diks, S.H., Bink, R.J., van de Water, S., Joore, J., van Rooijen, C., Verbeek, F.J., den Hertog, J., Peppelenbosch, M.P., Zivkovic, D. J. Cell Biol. (2006) [Pubmed]
  7. Polyalanine expansion mutations in the X-linked hypopituitarism gene SOX3 result in aggresome formation and impaired transactivation. Wong, J., Farlie, P., Holbert, S., Lockhart, P., Thomas, P.Q. Front. Biosci. (2007) [Pubmed]
  8. Modulation of SOX2 and SOX3 gene expression during differentiation of human neuronal precursor cell line NTERA2. Stevanovic, M. Mol. Biol. Rep. (2003) [Pubmed]
  9. Comparative genomics on SOX2 orthologs. Katoh, Y., Katoh, M. Oncol. Rep. (2005) [Pubmed]
  10. Absence of SOX3 in the developing marsupial gonad is not consistent with a conserved role in mammalian sex determination. Pask, A.J., Harry, J.L., Renfree, M.B., Marshall Graves, J.A. Genesis (2000) [Pubmed]
  11. Mutation analysis of subjects with 46, XX sex reversal and 46, XY gonadal dysgenesis does not support the involvement of SOX3 in testis determination. Lim, H.N., Berkovitz, G.D., Hughes, I.A., Hawkins, J.R. Hum. Genet. (2000) [Pubmed]
  12. Congenital motor nystagmus linked to Xq26-q27. Kerrison, J.B., Vagefi, M.R., Barmada, M.M., Maumenee, I.H. Am. J. Hum. Genet. (1999) [Pubmed]
  13. A molecular pathogenesis for transcription factor associated poly-alanine tract expansions. Albrecht, A.N., Kornak, U., Böddrich, A., Süring, K., Robinson, P.N., Stiege, A.C., Lurz, R., Stricker, S., Wanker, E.E., Mundlos, S. Hum. Mol. Genet. (2004) [Pubmed]
  14. Chromosomal localization of single copy genes SRY and SOX3 by primed in situ labeling (PRINS). Kadandale, J.S., Tunca, Y., Tharapel, A.T. Microb. Comp. Genomics (2000) [Pubmed]
  15. From brain determination to testis determination: evolution of the mammalian sex-determining gene. Graves, J.A. Reprod. Fertil. Dev. (2001) [Pubmed]
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