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SRY (sex determining region Y)-box 14

PDB rendering based on 1gt0.
Available structures
1gt0, 1o4x
Identifiers
Symbols SOX14; MGC119898; MGC119899; SOX28; SRY-box 14
External IDs OMIM604747 MGI98362 HomoloGene31224 GeneCards: SOX14 Gene
RNA expression pattern
PBB GE SOX14 208574 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 8403 20669
Ensembl ENSG00000168875 n/a
UniProt O95416 n/a
RefSeq (mRNA) NM_004189 XM_284529
RefSeq (protein) NP_004180 XP_284529
Location (UCSC) Chr 3:
138.97 - 138.97 Mb
n/a
PubMed search [1] [2]

Transcription factor SOX-14 is a protein that in humans is encoded by the SOX14 gene.[1][2]

This intronless 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 are suggested to be responsible for the limb defects associated with blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) and Mobius syndrome.[2]

References

  1. ^ Arsic N, Rajic T, Stanojcic S, Goodfellow PN, Stevanovic M (Mar 1999). "Characterisation and mapping of the human SOX14 gene". Cytogenet Cell Genet 83 (1-2): 139-46. PMID 9925951.  
  2. ^ a b "Entrez Gene: SOX14 SRY (sex determining region Y)-box 14". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8403.  

Further reading

  • Wilson M, Koopman P (2003). "Matching SOX: partner proteins and co-factors of the SOX family of transcriptional regulators.". Curr. Opin. Genet. Dev. 12 (4): 441–6. doi:10.1016/S0959-437X(02)00323-4. PMID 12100890.  
  • 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.  
  • Cremazy F, Soullier S, Berta P, Jay P (1998). "Further complexity of the human SOX gene family revealed by the combined use of highly degenerate primers and nested PCR.". FEBS Lett. 438 (3): 311–4. doi:10.1016/S0014-5793(98)01294-0. PMID 9827568.  
  • Malas S, Duthie S, Deloukas P, Episkopou V (1999). "The isolation and high-resolution chromosomal mapping of human SOX14 and SOX21; two members of the SOX gene family related to SOX1, SOX2, and SOX3.". Mamm. Genome 10 (9): 934–7. doi:10.1007/s003359901118. PMID 10441749.  
  • Wilmore HP, Smith MJ, Wilcox SA, et al. (2000). "SOX14 is a candidate gene for limb defects associated with BPES and Möbius syndrome.". Hum. Genet. 106 (3): 269–76. doi:10.1007/s004390051037. PMID 10798354.  
  • Hargrave M, James K, Nield K, et al. (2000). "Fine mapping of the neurally expressed gene SOX14 to human 3q23, relative to three congenital diseases.". Hum. Genet. 106 (4): 432–9. doi:10.1007/s004390000266. PMID 10830911.  
  • 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.  
  • 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.  
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