SOX3

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SOX3
Identifiers
AliasesSOX3, GHDX, MRGH, PHP, PHPX, SOXB, SRY-box 3
External IDsOMIM: 313430 MGI: 98365 HomoloGene: 4118 GeneCards: SOX3
Gene location (Human)
X chromosome (human)
Chr.X chromosome (human)[1]
X chromosome (human)
Genomic location for SOX3
Genomic location for SOX3
BandXq27.1Start140,502,985 bp[1]
End140,505,116 bp[1]
RNA expression pattern
PBB GE SOX3 214633 at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_005634

NM_009237

RefSeq (protein)

NP_005625

n/a

Location (UCSC)Chr X: 140.5 – 140.51 MbChr X: 60.89 – 60.89 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Transcription factor SOX-3 is a protein that in humans is encoded by the SOX3 gene.[5][6][5]

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.[7] Mutations and duplications in this gene have been associated with X-linked hypopituitarism (XH), X-linked mental retardation and XX male sex reversal.[8] Patients with XH are male, have short stature, exhibit a mild form of mental retardation and present pan-hypopituitarism.[6][9]

See also[edit]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000134595 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000045179 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  5. ^ a b 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.
  6. ^ a b "Entrez Gene: SOX3 SRY (sex determining region Y)-box 3".
  7. ^ Bylund M, Andersson E, Novitch BG, Muhr J (November 2003). "Vertebrate neurogenesis is counteracted by Sox1-3 activity". Nature Neuroscience. 6 (11): 1162–8. doi:10.1038/nn1131. PMID 14517545.
  8. ^ Moalem S, Babul-Hirji R, Stavropolous DJ, Wherrett D, Bägli DJ, Thomas P, Chitayat D (July 2012). "XX male sex reversal with genital abnormalities associated with a de novo SOX3 gene duplication". American Journal of Medical Genetics. Part A. 158A (7): 1759–64. doi:10.1002/ajmg.a.35390. PMID 22678921.
  9. ^ 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[edit]

External links[edit]

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