SOX14

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SRY (sex determining region Y)-box 14
Protein SOX14 PDB 1gt0.png
PDB rendering based on 1gt0.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols SOX14 ; SOX28
External IDs OMIM604747 MGI98362 HomoloGene31224 GeneCards: SOX14 Gene
RNA expression pattern
PBB GE SOX14 208574 at tn.png
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 [1] [2]

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[edit]

  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. ^ a b "Entrez Gene: SOX14 SRY (sex determining region Y)-box 14". 

Further reading[edit]