SOX11

SOX11
Identifiers
Aliases	SOX11 , MRD27, SRY-box 11, CSS9, SRY-box transcription factor 11
External IDs	OMIM: 600898; MGI: 98359; HomoloGene: 37733; GeneCards: SOX11; OMA:SOX11 - orthologs
Gene location (Human) Chr. Chromosome 2 (human) [1] Band 2p25.2 Start 5,692,384 bp [1] End 5,701,385 bp [1]
Gene location (Mouse) Chr. Chromosome 12 (mouse) [2] Band 12|12 A2 Start 27,384,263 bp [2] End 27,392,573 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in ganglionic eminence ventricular zone buccal mucosa cell cartilage tissue optic nerve retinal pigment epithelium internal globus pallidus nucleus accumbens hypothalamus medulla oblongata Top expressed in Rostral migratory stream medial ganglionic eminence abdominal wall maxillary prominence genital tubercle human fetus mandibular prominence fossa otic vesicle trigeminal ganglion More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA binding transcription coactivator activity DNA-binding transcription factor activity DNA-binding transcription activator activity, RNA polymerase II-specific translation factor activity, RNA binding transcription cis-regulatory region binding cis-regulatory region sequence-specific DNA binding RNA polymerase II core promoter sequence-specific DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific RNA polymerase II cis-regulatory region sequence-specific DNA binding Cellular component cytoplasm nucleus Biological process embryonic skeletal system morphogenesis skeletal system development noradrenergic neuron differentiation positive regulation of lens epithelial cell proliferation cell differentiation cardiac ventricle formation glial cell development regulation of transcription, DNA-templated limb bud formation lung morphogenesis sympathetic nervous system development neural crest cell development kidney development negative regulation of glial cell proliferation soft palate development ventricular septum morphogenesis cornea development in camera-type eye outflow tract morphogenesis positive regulation of ossification negative regulation of transcription by RNA polymerase II negative regulation of cell death transcription by RNA polymerase II eyelid development in camera-type eye negative regulation of gene expression negative regulation of lymphocyte proliferation somite development transcription, DNA-templated neuroepithelial cell differentiation regulation of transforming growth factor beta receptor signaling pathway nervous system development positive regulation of transcription, DNA-templated positive regulation of hippo signaling positive regulation of neurogenesis multicellular organism development positive regulation of gene expression positive regulation of osteoblast differentiation lens morphogenesis in camera-type eye negative regulation of transcription regulatory region DNA binding hard palate development positive regulation of neuron differentiation neuron differentiation positive regulation of cell population proliferation spinal cord development positive regulation of BMP signaling pathway glial cell proliferation skeletal muscle cell differentiation embryonic digestive tract morphogenesis oligodendrocyte development cell population proliferation positive regulation of stem cell proliferation neural tube formation positive regulation of hormone secretion positive regulation of transcription by RNA polymerase II closure of optic fissure protein biosynthesis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 6664 20666 Ensembl ENSG00000176887 ENSMUSG00000063632 UniProt P35716 Q7M6Y2 RefSeq (mRNA) NM_003108 NM_009234 RefSeq (protein) NP_003099 NP_033260 Location (UCSC) Chr 2: 5.69 – 5.7 Mb Chr 12: 27.38 – 27.39 Mb PubMed search [3] [4]
Wikidata
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Transcription factor SOX-11 is a protein that in humans is encoded by the SOX11 gene. ^{[5] [6] [7]}

Function

This intronless gene encodes a member of the group C SOX (SRY-related HMG-box) transcription factor family 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. The protein may function in the developing nervous system and play a role in tumorigenesis and adult neurogenesis. ^{[7] [8]} Tuj1 and Tead2 are suggested as direct target of Sox11. ^{[9] [10] [11]}

Clinical aspect

Lymphocyte staining for SOX11 immunohistochemistry indicates mantle cell lymphoma (cyclin D1 positive and negative) rather than other mature lymphoid neoplasms or normal lymphocytes. ^[12]

Mutations in SOX11 are associated with Coffin–Siris syndrome ^[13] and mantle cell lymphoma. ^[14]

See also

• SOX genes

References

1. GRCh38: Ensembl release 89: ENSG00000176887 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000063632 – 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. Jay P, Gozé C, Marsollier C, Taviaux S, Hardelin JP, Koopman P, Berta P (Sep 1995). "The human SOX11 gene: cloning, chromosomal assignment and tissue expression". Genomics. 29 (2): 541–5. doi:10.1006/geno.1995.9970. PMID   8666406.
6. Wiebe MS, Nowling TK, Rizzino A (May 2003). "Identification of novel domains within Sox-2 and Sox-11 involved in autoinhibition of DNA binding and partnership specificity". The Journal of Biological Chemistry. 278 (20): 17901–11. doi: 10.1074/jbc.M212211200 . PMID   12637543.
7. "Entrez Gene: SOX11 SRY (sex determining region Y)-box 11".
8. Haslinger A, Schwarz TJ, Covic M, Lie DC (Jun 2009). "Expression of Sox11 in adult neurogenic niches suggests a stage-specific role in adult neurogenesis". The European Journal of Neuroscience. 29 (11): 2103–14. doi:10.1111/j.1460-9568.2009.06768.x. PMID   19490090. S2CID   42742018.
9. Bergsland M, Werme M, Malewicz M, Perlmann T, Muhr J (Dec 2006). "The establishment of neuronal properties is controlled by Sox4 and Sox11". Genes & Development. 20 (24): 3475–86. doi:10.1101/gad.403406. PMC   1698453 . PMID   17182872.
10. Bhattaram P, Penzo-Méndez A, Sock E, Colmenares C, Kaneko KJ, Vassilev A, Depamphilis ML, Wegner M, Lefebvre V (Apr 2010). "Organogenesis relies on SoxC transcription factors for the survival of neural and mesenchymal progenitors". Nature Communications. 1 (1) 9. Bibcode:2010NatCo...1....9B. doi:10.1038/ncomms1008. PMC   2892298 . PMID   20596238.
11. Larson BL, Ylostalo J, Lee RH, Gregory C, Prockop DJ (Nov 2010). "Sox11 is expressed in early progenitor human multipotent stromal cells and decreases with extensive expansion of the cells". Tissue Engineering. Part A. 16 (11): 3385–94. doi:10.1089/ten.tea.2010.0085. PMC   2965191 . PMID   20626275.
12. Anna Dusenbery, M.D., Mark R. Wick, M.D. "Stains & CD markers - SOX11". Pathology Outlines. Topic Completed: 1 January 2018. Minor changes: 12 August 2021
13. Tsurusaki Y, Koshimizu E, Ohashi H, Phadke S, Kou I, Shiina M, Suzuki T, Okamoto N, Imamura S, Yamashita M, Watanabe S, Yoshiura K, Kodera H, Miyatake S, Nakashima M, Saitsu H, Ogata K, Ikegawa S, Miyake N, Matsumoto N (2014). "De novo SOX11 mutations cause Coffin-Siris syndrome". Nature Communications. 5 4011. Bibcode:2014NatCo...5.4011T. doi: 10.1038/ncomms5011 . PMID   24886874.
14. Vose, Julie M. (August 2017). "Mantle cell lymphoma: 2017 update on diagnosis, risk-stratification, and clinical management". American Journal of Hematology. 92 (8): 806–813. doi: 10.1002/ajh.24797 . ISSN   1096-8652. PMID   28699667.

Further reading

• Wilson M, Koopman P (Aug 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 (Aug 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.
• Gozé C, Poulat F, Berta P (Jun 1993). "Partial cloning of SOX-11 and SOX-12, two new human SOX genes". Nucleic Acids Research. 21 (12): 2943. doi:10.1093/nar/21.12.2943. PMC   309692 . PMID   8332506.
• Kuhlbrodt K, Herbarth B, Sock E, Enderich J, Hermans-Borgmeyer I, Wegner M (Jun 1998). "Cooperative function of POU proteins and SOX proteins in glial cells". The Journal of Biological Chemistry. 273 (26): 16050–7. doi: 10.1074/jbc.273.26.16050 . PMID   9632656.
• Azuma T, Ao S, Saito Y, Yano K, Seki N, Wakao H, Masuho Y, Muramatsu M (Oct 1999). "Human SOX11, an upregulated gene during the neural differentiation, has a long 3' untranslated region". DNA Research. 6 (5): 357–60. doi: 10.1093/dnares/6.5.357 . PMID   10574465.
• 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.
• Ballif BA, Villén J, Beausoleil SA, Schwartz D, Gygi SP (Nov 2004). "Phosphoproteomic analysis of the developing mouse brain". Molecular & Cellular Proteomics. 3 (11): 1093–101. doi: 10.1074/mcp.M400085-MCP200 . PMID   15345747.
• Bouma GJ, Albrecht KH, Washburn LL, Recknagel AK, Churchill GA, Eicher EM (Jul 2005). "Gonadal sex reversal in mutant Dax1 XY mice: a failure to upregulate Sox9 in pre-Sertoli cells". Development. 132 (13): 3045–54. doi: 10.1242/dev.01890 . PMID   15944188.
• Thevenet L, Albrecht KH, Malki S, Berta P, Boizet-Bonhoure B, Poulat F (Nov 2005). "NHERF2/SIP-1 interacts with mouse SRY via a different mechanism than human SRY". The Journal of Biological Chemistry. 280 (46): 38625–30. doi: 10.1074/jbc.M504127200 . PMID   16166090.
• DesGroseilliers M, Fortin F, Lemyre E, Lemieux N (2006). "Complex mosaicism in sex reversed SRY+ male twins". Cytogenetic and Genome Research. 112 (1–2): 176–9. doi:10.1159/000087532. PMID   16276109. S2CID   43826181.

External links

• Overview of all the structural information available in the PDB for UniProt : P35716 (Human Transcription factor SOX-11) at the PDBe-KB .