SOX14
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SRY (sex determining region Y)-box 14 | |||||||||||||
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PDB rendering based on 1gt0. | |||||||||||||
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Identifiers | |||||||||||||
Symbols | SOX14; SOX28 | ||||||||||||
External IDs | OMIM: 604747 MGI: 98362 HomoloGene: 31224 GeneCards: SOX14 Gene | ||||||||||||
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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: 137.48 – 137.48 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
- ↑ 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.
- ↑ 2.0 2.1 "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.
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