SOX14

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SRY (sex determining region Y)-box 14

PDB rendering based on 1gt0.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
SymbolsSOX14; SOX28
External IDsOMIM: 604747 MGI: 98362 HomoloGene: 31224 GeneCards: SOX14 Gene
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez840320669
EnsemblENSG00000168875ENSMUSG00000053747
UniProtO95416Q04892
RefSeq (mRNA)NM_004189NM_011440
RefSeq (protein)NP_004180NP_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

  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. 2.0 2.1 "Entrez Gene: SOX14 SRY (sex determining region Y)-box 14". 

Further reading


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