SOX14

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SOX14
Protein SOX14 PDB 1gt0.png
Identifiers
AliasesSOX14, SOX28, SRY-box 14
External IDsOMIM: 604747 MGI: 98362 HomoloGene: 31224 GeneCards: SOX14
Gene location (Human)
Chromosome 3 (human)
Chr.Chromosome 3 (human)[1]
Chromosome 3 (human)
Genomic location for SOX14
Genomic location for SOX14
Band3q22.3Start137,764,284 bp[1]
End137,766,338 bp[1]
RNA expression pattern
PBB GE SOX14 208574 at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_004189

NM_011440

RefSeq (protein)

NP_004180

NP_035570

Location (UCSC)Chr 3: 137.76 – 137.77 MbChr 9: 99.87 – 99.88 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Transcription factor SOX-14 is a protein that in humans is encoded by the SOX14 gene.[5][6]

Function[edit]

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.[6]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000168875 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000053747 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  5. ^ Arsic N, Rajic T, Stanojcic S, Goodfellow PN, Stevanovic M (Mar 1999). "Characterisation and mapping of the human SOX14 gene". Cytogenetics and Cell Genetics. 83 (1–2): 139–46. doi:10.1159/000015149. PMID 9925951.
  6. ^ a b "Entrez Gene: SOX14 SRY (sex determining region Y)-box 14".

Further reading[edit]

  • Wilson M, Koopman P (August 2002). "Matching SOX: partner proteins and co-factors of the SOX family of transcriptional regulators". Current Opinion in Genetics & Development. 12 (4): 441–6. doi:10.1016/S0959-437X(02)00323-4. PMID 12100890.
  • Schepers GE, Teasdale RD, Koopman P (August 2002). "Twenty pairs of sox: extent, homology, and nomenclature of the mouse and human sox transcription factor gene families". Developmental Cell. 3 (2): 167–70. doi:10.1016/S1534-5807(02)00223-X. PMID 12194848.
  • Cremazy F, Soullier S, Berta P, Jay P (November 1998). "Further complexity of the human SOX gene family revealed by the combined use of highly degenerate primers and nested PCR". FEBS Letters. 438 (3): 311–4. doi:10.1016/S0014-5793(98)01294-0. PMID 9827568.
  • Malas S, Duthie S, Deloukas P, Episkopou V (September 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". Mammalian Genome. 10 (9): 934–7. doi:10.1007/s003359901118. PMID 10441749.
  • Wilmore HP, Smith MJ, Wilcox SA, Bell KM, Sinclair AH (March 2000). "SOX14 is a candidate gene for limb defects associated with BPES and Möbius syndrome". Human Genetics. 106 (3): 269–76. doi:10.1007/s004390051037. PMID 10798354.
  • Hargrave M, James K, Nield K, Toomes C, Georgas K, Sullivan T, Verzijl HT, Oley CA, Little M, De Jonghe P, Kwon JM, Kremer H, Dixon MJ, Timmerman V, Yamada T, Koopman P (April 2000). "Fine mapping of the neurally expressed gene SOX14 to human 3q23, relative to three congenital diseases". Human Genetics. 106 (4): 432–9. doi:10.1007/s004390000266. PMID 10830911.