SOX4

SOX4
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	3U2B
Identifiers
Aliases	SOX4, EVI16, SRY-box 4, SRY-box transcription factor 4, CSS10
External IDs	OMIM: 184430; MGI: 98366; HomoloGene: 2338; GeneCards: SOX4; OMA:SOX4 - orthologs
Gene location (Human)
Chr.	Chromosome 6 (human)
End	21,598,619 bp
Gene location (Mouse)
Chr.	Chromosome 13 (mouse)
End	29,137,696 bp
RNA expression pattern
	Top expressed in
	ganglionic eminence; ; ventricular zone; ; tendon of biceps brachii; ; corpus epididymis; ; beta cell; ; visceral pleura; ; lactiferous duct; ; caput epididymis; ; tibia; ; thymus;
	Top expressed in
	medial ganglionic eminence; ; Rostral migratory stream; ; vas deferens; ; human fetus; ; Gonadal ridge; ; abdominal wall; ; mandibular prominence; ; maxillary prominence; ; superior cervical ganglion; ; left lung lobe;
	More reference expression data
	; ; ; ;
	More reference expression data
Gene ontology
Molecular function	DNA binding; transcription coactivator activity; DNA-binding transcription activator activity, RNA polymerase II-specific; transcription cis-regulatory region binding; core promoter sequence-specific DNA binding; protein binding; protein heterodimerization activity; DNA-binding transcription factor activity; DNA-binding transcription factor activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding;
Cellular component	cytoplasm; nucleoplasm; mitochondrion; nucleus;
Biological process	skeletal system development; noradrenergic neuron differentiation; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; cardiac ventricle formation; glial cell development; regulation of transcription, DNA-templated; limb bud formation; regulation of protein stability; sympathetic nervous system development; somatic stem cell population maintenance; glucose homeostasis; positive regulation of canonical Wnt signaling pathway; ventricular septum morphogenesis; protein stabilization; ascending aorta morphogenesis; negative regulation of cell death; mitral valve morphogenesis; positive regulation of translation; transcription, DNA-templated; neuroepithelial cell differentiation; positive regulation of transcription, DNA-templated; positive regulation of Wnt signaling pathway; negative regulation of protein ubiquitination; heart development; pro-B cell differentiation; atrial septum primum morphogenesis; T cell differentiation; kidney morphogenesis; positive regulation of cell population proliferation; spinal cord development; positive regulation of apoptotic process; glial cell proliferation; canonical Wnt signaling pathway; positive regulation of N-terminal peptidyl-lysine acetylation; spinal cord motor neuron differentiation; cardiac right ventricle morphogenesis; neural tube formation; cellular response to glucose stimulus; endocrine pancreas development; negative regulation of cell population proliferation; positive regulation of insulin secretion; positive regulation of transcription by RNA polymerase II; transcription by RNA polymerase II; cell differentiation;
	Sources:Amigo / QuickGO
Orthologs
	6659
	20677
	ENSG00000124766
	ENSMUSG00000076431
	Q06945
	Q06831
	NM_003107
	NM_009238
	NP_003098
	NP_033264
	Wikidata
View/Edit Human	View/Edit Mouse

Transcription factor SOX-4 is a protein that in humans is encoded by the SOX4 gene.^[5]^[6]^[7]

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, such as syndecan binding protein (syntenin). The protein may function in the apoptosis pathway leading to cell death as well as to tumorigenesis and may mediate downstream effects of parathyroid hormone (PTH) and PTH-related protein (PTHrP) in bone development. The solution structure has been resolved for the HMG-box of a similar mouse protein.^[7]

Sox4 is expressed in lymphocytes (B and T) and is required for B lymphocyte development.^[8]

Clinical significance

A genomic region close to the SOX4 gene has been associated with endometrial cancer development.^[9]^[10]

Interactions

SOX4 has been shown to interact with SDCBP.^[11]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000124766 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000076431 – 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.
^ Farr CJ, Easty DJ, Ragoussis J, Collignon J, Lovell-Badge R, Goodfellow PN (January 1994). "Characterization and mapping of the human SOX4 gene". Mammalian Genome. 4 (10): 577–84. doi:10.1007/BF00361388. PMID 8268656. S2CID 12096721.
^ Critcher R, Stitson RN, Wade-Martins R, Easty DJ, Farr CJ (October 1998). "Assignment of Sox4 to mouse chromosome 13 bands A3-A5 by fluorescence in situ hybridization; refinement of the human SOX4 location to 6p22.3 and of SOX20 to chromosome 17p12.3". Cytogenetics and Cell Genetics. 81 (3–4): 294–5. doi:10.1159/000015052 (inactive 2024-07-25). PMID 9730625. S2CID 46849443.{{cite journal}}: CS1 maint: DOI inactive as of July 2024 (link)
^ ^a ^b "Entrez Gene: SOX4 SRY (sex determining region Y)-box 4".
^ Smith E, Sigvardsson M (June 2004). "The roles of transcription factors in B lymphocyte commitment, development, and transformation". Journal of Leukocyte Biology. 75 (6): 973–81. doi:10.1189/jlb.1103554. PMID 14982952. S2CID 6805071.
^ O'Mara TA, Glubb DM, Amant F, Annibali D, Ashton K, Attia J, Auer PL, Beckmann MW, et al. (August 2018). "Identification of nine new susceptibility loci for endometrial cancer". Nature Communications. 9 (1): 3166. Bibcode:2018NatCo...9.3166O. doi:10.1038/s41467-018-05427-7. PMC 6085317. PMID 30093612.
^ Chen MM, O'Mara TA, Thompson DJ, Painter JN, Attia J, Black A, et al. (June 2016). "GWAS meta-analysis of 16 852 women identifies new susceptibility locus for endometrial cancer". Human Molecular Genetics. 25 (12): 2612–2620. doi:10.1093/hmg/ddw092. PMC 5868213. PMID 27008869.
^ Geijsen N, Uings IJ, Pals C, Armstrong J, McKinnon M, Raaijmakers JA, Lammers JW, Koenderman L, Coffer PJ (August 2001). "Cytokine-specific transcriptional regulation through an IL-5Ralpha interacting protein". Science. 293 (5532): 1136–8. doi:10.1126/science.1059157. PMID 11498591. S2CID 28003281.