SOX14

From Wikipedia, the free encyclopedia

SRY (sex determining region Y)-box 14

PDB rendering based on 1gt0.

Available structures: 1gt0, 1o4x

Identifiers

Symbol(s)

SOX14; MGC119898; MGC119899; SOX28; SRY-box 14

External IDs

OMIM: 604747 MGI: 98362 HomoloGene: 31224

Gene ontology
Molecular Function:	• transcription factor activity
Cellular Component:	• chromatin • nucleus
Biological Process:	• establishment and/or maintenance of chromatin architecture • transcription • regulation of transcription, DNA-dependent • nervous system development

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

n/a

n/a

Refseq

NM_004189 (mRNA)
NP_004180 (protein)

XM_284529 (mRNA)
XP_284529 (protein)

Location

Chr 3: 138.97 - 138.97 Mb

n/a

Pubmed search

[1]

[2]

SRY (sex determining region Y)-box 14, also known as SOX14, is a human gene.^[1]

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.^[1]

[edit] References

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

[edit] 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. 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. 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. PMID 9827568.
Arsic N, Rajic T, Stanojcic S, et al. (1999). "Characterisation and mapping of the human SOX14 gene.". Cytogenet. Cell Genet. 83 (1-2): 139–46. PMID 9925951.
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. 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. 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. 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. 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. PMID 15489334.