SOX14

SRY (sex determining region Y)-box 14
PDB rendering based on 1gt0.
Available structures PDB 1gt0, 1o4x
Identifiers
Symbols	SOX14; MGC119898; MGC119899; SOX28
External IDs	OMIM: 604747 MGI: 98362 HomoloGene: 31224 GeneCards: SOX14 Gene
Gene Ontology Molecular function • sequence-specific DNA binding Cellular component • cellular_component • nucleus Biological process • negative regulation of transcription from RNA polymerase II promoter • nervous system development • negative regulation of transcription, DNA-dependent Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	8403	20669
Ensembl	ENSG00000168875	ENSMUSG00000053747
UniProt	O95416	n/a
RefSeq (mRNA)	NM_004189	NM_011440.1
RefSeq (protein)	NP_004180	NP_035570.1
Location (UCSC)	Chr 3: 137.48 – 137.48 Mb	Chr 9: 99.77 – 99.78 Mb
PubMed search	[1]	[2]

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

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.

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. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241. 
• 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. PMC 528928. PMID 15489334. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=528928.