SOX14

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)
End	137,766,334 bp
Gene location (Mouse)
Chr.	Chromosome 9 (mouse)
End	99,758,223 bp
RNA expression pattern
	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
	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
	8403
	20669
	ENSG00000168875
	ENSMUSG00000053747
	O95416
	Q04892
	NM_004189
	NM_011440
	NP_004180
	NP_035570
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated August 23, 2024

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

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.^[6]

Related Research Articles

Sex-determining region Y protein (SRY), or testis-determining factor (TDF), is a DNA-binding protein encoded by the SRY gene that is responsible for the initiation of male sex determination in therian mammals. SRY is an intronless sex-determining gene on the Y chromosome. Mutations in this gene lead to a range of disorders of sex development with varying effects on an individual's phenotype and genotype.

SOX genes encode a family of transcription factors that bind to the minor groove in DNA, and belong to a super-family of genes characterized by a homologous sequence called the HMG-box. This HMG box is a DNA binding domain that is highly conserved throughout eukaryotic species. Homologues have been identified in insects, nematodes, amphibians, reptiles, birds and a range of mammals. However, HMG boxes can be very diverse in nature, with only a few amino acids being conserved between species.

Twist-related protein 1 (TWIST1) also known as class A basic helix–loop–helix protein 38 (bHLHa38) is a basic helix-loop-helix transcription factor that in humans is encoded by the TWIST1 gene.

The steroidogenic factor 1 (SF-1) protein is a transcription factor involved in sex determination by controlling the activity of genes related to the reproductive glands or gonads and adrenal glands. This protein is encoded by the NR5A1 gene, a member of the nuclear receptor subfamily, located on the long arm of chromosome 9 at position 33.3. It was originally identified as a regulator of genes encoding cytochrome P450 steroid hydroxylases, however, further roles in endocrine function have since been discovered.

Transcription factor SOX-9 is a protein that in humans is encoded by the SOX9 gene.

Forkhead box protein L2 is a protein that in humans is encoded by the FOXL2 gene.

Transcription factor SOX-10 is a protein that in humans is encoded by the SOX10 gene.

T-box transcription factor TBX5, is a protein that in humans is encoded by the TBX5 gene. Abnormalities in the TBX5 gene can result in altered limb development, Holt-Oram syndrome, Tetra-amelia syndrome, and cardiac and skeletal problems.

Transcription factor SOX-4 is a protein that in humans is encoded by the SOX4 gene.

Transcription factor SOX-3 is a protein that in humans is encoded by the SOX3 gene. This gene encodes a member of the SOX family of transcription factors involved in the regulation of embryonic brain development and in determination of cell fate. The encoded protein acts as a transcriptional activator.

Transcription factor SOX-5 is a protein that in humans is encoded by the SOX5 gene.

Transcription factor SOX-13 is a protein that in humans is encoded by the SOX13 gene.

Transcription factor SOX-6 is a protein that in humans is encoded by the SOX6 gene.

Transcription factor SOX-18 is a protein that in humans is encoded by the SOX18 gene.

Transcription factor SOX-11 is a protein that in humans is encoded by the SOX11 gene.

Transcription factor SOX-8 is a protein that in humans is encoded by the SOX8 gene.

Protein SOX-15 is a protein that in humans is encoded by the SOX15 gene.

SOX12 is a protein that in humans is encoded by the SOX12 gene. Sox12 belongs to the SoxC group of Sox family of transcription factors, together with Sox4 and Sox11. Sox12-null knockout mice appear normal, unlike Sox4 or Sox11 knockout mice. This probably comes from functional redundancy with Sox4 and Sox11. Sox12 is a weaker activator than both Sox4 and Sox11 in mouse.

Transcription factor SOX-21 is a protein that in humans is encoded by the SOX21 gene. It is a member of the Sox gene family of transcription factors.

SRY -box 30 is a protein that in humans is encoded by the SOX30 gene.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000168875 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000053747 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ 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 (inactive 2024-08-22). PMID 9925951. S2CID 24812709.{{cite journal}}: CS1 maint: DOI inactive as of August 2024 (link)
1 2 "Entrez Gene: SOX14 SRY (sex determining region Y)-box 14".

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 2024-07-25). PMID 10798354.{{cite journal}}: CS1 maint: DOI inactive as of July 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.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000168875 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000053747 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid9925951-5] 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 (inactive 2024-08-22). PMID 9925951. S2CID 24812709.{{cite journal}}: CS1 maint: DOI inactive as of August 2024 (link)

[entrez-6] 1 2 "Entrez Gene: SOX14 SRY (sex determining region Y)-box 14".

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SOX14

Contents

Function

Related Research Articles

References

Further reading