SOX14

SRY (sex determining region Y)-box 14
PDB rendering based on 1gt0.
Available structures PDB Ortholog search: PDBe, RCSB List of PDB id codes 1gt0​, 1o4x​
Identifiers
Symbols	SOX14 ; SOX28
External IDs	OMIM: 604747 MGI: 98362 HomoloGene: 31224 GeneCards: SOX14 Gene
Gene ontology Molecular function • RNA polymerase II transcription factor activity, sequence-specific DNA binding • chromatin binding • protein binding • sequence-specific DNA binding • protein heterodimerization activity Cellular component • cellular_component • nuclear transcription factor complex Biological process • negative regulation of transcription from RNA polymerase II promoter • transcription from RNA polymerase II promoter • nervous system development • visual perception • entrainment of circadian clock • negative regulation of transcription, DNA-templated • regulation of neuron migration Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	8403	20669
Ensembl	ENSG00000168875	ENSMUSG00000053747
UniProt	O95416	Q04892
RefSeq (mRNA)	NM_004189	NM_011440
RefSeq (protein)	NP_004180	NP_035570
Location (UCSC)	Chr 3: 137.76 – 137.77 Mb	Chr 9: 99.87 – 99.88 Mb
PubMed search

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. doi:10.1159/000015149. PMID 9925951.
2. "Entrez Gene: SOX14 SRY (sex determining region Y)-box 14".

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.
• 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.