SOX14

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

SOX14
Identifiers
Aliases	SOX14, SOX28, SRY-box 14, SRY-box transcription factor 14
External IDs	OMIM: 604747; MGI: 98362; HomoloGene: 31224; GeneCards: SOX14; OMA:SOX14 - orthologs
Gene location (Human) Chr. Chromosome 3 (human) Band 3q22.3 Start 137,764,315 bp End 137,766,334 bp
Gene location (Mouse) Chr. Chromosome 9 (mouse) Band 9 E3.3|9 52.11 cM Start 99,756,159 bp End 99,758,223 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in placenta hypothalamus substantia nigra prostate spinal cord C1 segment Top expressed in urethra male urethra embryo embryo mesencephalon genital tubercle epiblast rhombencephalon cerebellar cortex hypothalamus More reference expression data BioGPS More reference expression data
Gene ontology Molecular function sequence-specific DNA binding DNA binding chromatin binding protein binding protein heterodimerization activity DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component nucleus cellular component Biological process regulation of neuron migration negative regulation of transcription, DNA-templated regulation of transcription, DNA-templated negative regulation of transcription by RNA polymerase II transcription, DNA-templated nervous system development visual perception entrainment of circadian clock cell differentiation Sources:Amigo / QuickGO
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: 99.76 – 99.76 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

Function

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.

Further reading

• 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. S2CID 551497.
• 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. S2CID 27862567.
• 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 (inactive 1 November 2024). PMID 10798354.{{cite journal}}: CS1 maint: DOI inactive as of November 2024 (link)
• 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. S2CID 20519444.