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
Gene location (Human) Chr. Chromosome 6 (human) [1] Band 6p22.3 Start 21,593,751 bp [1] End 21,598,619 bp [1]
Gene location (Mouse) Chr. Chromosome 13 (mouse) [2] Band 13 A3.1|13 12.87 cM Start 29,132,902 bp [2] End 29,137,696 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in ganglionic eminence corpus epididymis visceral pleura lactiferous duct caput epididymis tibia thymus stromal cell of endometrium vena cava germinal epithelium Top expressed in medial ganglionic eminence vas deferens abdominal wall maxillary prominence superior cervical ganglion left lung lobe atrium calvaria atrioventricular valve internal carotid artery More reference expression data BioGPS 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 Species Human Mouse Entrez 6659 20677 Ensembl ENSG00000124766 ENSMUSG00000076431 UniProt Q06945 Q06831 RefSeq (mRNA) NM_003107 NM_009238 RefSeq (protein) NP_003098 NP_033264 Location (UCSC) Chr 6: 21.59 – 21.6 Mb Chr 13: 29.13 – 29.14 Mb PubMed search [3] [4]
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]

See also

• SOX gene family

References

1. GRCh38: Ensembl release 89: ENSG00000124766 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000076431 - 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.
5. 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.
6. 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. PMID   9730625. S2CID   46849443.
7. "Entrez Gene: SOX4 SRY (sex determining region Y)-box 4".
8. 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.
9. 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.
10. 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.
11. 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.

Further reading

• Kamachi Y, Uchikawa M, Kondoh H (April 2000). "Pairing SOX off: with partners in the regulation of embryonic development". Trends in Genetics. 16 (4): 182–7. doi:10.1016/S0168-9525(99)01955-1. PMID   10729834.
• Bowles J, Schepers G, Koopman P (November 2000). "Phylogeny of the SOX family of developmental transcription factors based on sequence and structural indicators". Developmental Biology. 227 (2): 239–55. doi: 10.1006/dbio.2000.9883 . PMID   11071752.
• 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.
• Denny P, Swift S, Brand N, Dabhade N, Barton P, Ashworth A (June 1992). "A conserved family of genes related to the testis determining gene, SRY". Nucleic Acids Research. 20 (11): 2887. doi:10.1093/nar/20.11.2887. PMC   336939 . PMID   1614875.
• Wotton D, Lake RA, Farr CJ, Owen MJ (March 1995). "The high mobility group transcription factor, SOX4, transactivates the human CD2 enhancer". The Journal of Biological Chemistry. 270 (13): 7515–22. doi: 10.1074/jbc.270.13.7515 . PMID   7706298.
• van de Wetering M, Oosterwegel M, van Norren K, Clevers H (October 1993). "Sox-4, an Sry-like HMG box protein, is a transcriptional activator in lymphocytes". The EMBO Journal. 12 (10): 3847–54. doi:10.1002/j.1460-2075.1993.tb06063.x. PMC   413668 . PMID   8404853.
• van Houte LP, Chuprina VP, van der Wetering M, Boelens R, Kaptein R, Clevers H (December 1995). "Solution structure of the sequence-specific HMG box of the lymphocyte transcriptional activator Sox-4". The Journal of Biological Chemistry. 270 (51): 30516–24. doi: 10.1074/jbc.270.51.30516 . PMID   8530483.
• Ahn SG, Cho GH, Jeong SY, Rhim H, Choi JY, Kim IK (June 1999). "Identification of cDNAs for Sox-4, an HMG-Box protein, and a novel human homolog of yeast splicing factor SSF-1 differentially regulated during apoptosis induced by prostaglandin A2/delta12-PGJ2 in Hep3B cells". Biochemical and Biophysical Research Communications. 260 (1): 216–21. doi:10.1006/bbrc.1999.0856. PMID   10381369.
• van Beest M, Dooijes D, van De Wetering M, Kjaerulff S, Bonvin A, Nielsen O, Clevers H (September 2000). "Sequence-specific high mobility group box factors recognize 10-12-base pair minor groove motifs". The Journal of Biological Chemistry. 275 (35): 27266–73. doi: 10.1074/jbc.M004102200 . PMID   10867006.
• Reppe S, Rian E, Jemtland R, Olstad OK, Gautvik VT, Gautvik KM (December 2000). "Sox-4 messenger RNA is expressed in the embryonic growth plate and regulated via the parathyroid hormone/parathyroid hormone-related protein receptor in osteoblast-like cells". Journal of Bone and Mineral Research. 15 (12): 2402–12. doi:10.1359/jbmr.2000.15.12.2402. PMID   11127205. S2CID   2013715.
• 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.
• Lee CJ, Appleby VJ, Orme AT, Chan WI, Scotting PJ (May 2002). "Differential expression of SOX4 and SOX11 in medulloblastoma". Journal of Neuro-Oncology. 57 (3): 201–14. doi:10.1023/A:1015773818302. PMID   12125983. S2CID   20719302.
• Ahn SG, Kim HS, Jeong SW, Kim BE, Rhim H, Shim JY, Kim JW, Lee JH, Kim IK (July 2002). "Sox-4 is a positive regulator of Hep3B and HepG2 cells' apoptosis induced by prostaglandin (PG)A(2) and delta(12)-PGJ(2)". Experimental & Molecular Medicine. 34 (3): 243–9. doi: 10.1038/emm.2002.34 . PMID   12216117.

External links

• SOX4+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.