SOX8

SOX8
Identifiers
Aliases	SOX8, SRY-box 8, SRY-box transcription factor 8
External IDs	OMIM: 605923; MGI: 98370; HomoloGene: 7950; GeneCards: SOX8; OMA:SOX8 - orthologs
Gene location (Human) Chr. Chromosome 16 (human) Band 16p13.3 Start 981,770 bp End 986,979 bp
Gene location (Mouse) Chr. Chromosome 17 (mouse) Band 17 A3.3|17 12.69 cM Start 25,784,866 bp End 25,789,660 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in inferior ganglion of vagus nerve external globus pallidus subthalamic nucleus parotid gland pars reticulata ventral tegmental area medulla oblongata spinal cord C1 segment superior vestibular nucleus Top expressed in metatarsal bones lumbar subsegment of spinal cord zygote fourth metatarsal bone Bowman's capsule second metatarsal bone visual cortex third metatarsal bone primary visual cortex secondary oocyte More reference expression data BioGPS n/a
Gene ontology Molecular function DNA binding sequence-specific DNA binding DNA-binding transcription factor activity transcription factor binding protein heterodimerization activity RNA polymerase II core promoter sequence-specific DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific DNA-binding transcription activator activity, RNA polymerase II-specific Cellular component cytoplasm nucleus Biological process positive regulation of osteoblast proliferation cell fate commitment negative regulation of myoblast differentiation positive regulation of branching involved in ureteric bud morphogenesis male gonad development peripheral nervous system development regulation of transcription, DNA-templated morphogenesis of a branching epithelium ureter morphogenesis regulation of hormone levels oligodendrocyte differentiation negative regulation of apoptotic process in utero embryonic development cell maturation Sertoli cell development transcription, DNA-templated metanephric nephron tubule formation positive regulation of transcription, DNA-templated negative regulation of photoreceptor cell differentiation enteric nervous system development renal vesicle induction positive regulation of kidney development positive regulation of gene expression retina development in camera-type eye astrocyte fate commitment osteoblast differentiation neural crest cell migration spermatogenesis retinal rod cell differentiation skeletal muscle cell differentiation adipose tissue development negative regulation of transcription, DNA-templated fat cell differentiation signal transduction positive regulation of transcription by RNA polymerase II positive regulation of gliogenesis morphogenesis of an epithelium central nervous system development Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 30812 20681 Ensembl ENSG00000005513 ENSMUSG00000024176 UniProt P57073 Q04886 RefSeq (mRNA) NM_014587 NM_011447 RefSeq (protein) NP_055402 NP_035577 Location (UCSC) Chr 16: 0.98 – 0.99 Mb Chr 17: 25.78 – 25.79 Mb PubMed search
Wikidata
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Transcription factor SOX-8 is a protein that in humans is encoded by the SOX8 gene.

This 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 activator after forming a protein complex with other proteins. This protein may be involved in brain development and function. Haploinsufficiency for this protein may contribute to the intellectual disability found in haemoglobin H-related mental retardation (ATR-16 syndrome).

See also

• SOX genes

Further reading

• Daniels RJ, Peden JF, Lloyd C, et al. (2001). "Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16". Hum. Mol. Genet. 10 (4): 339–52. doi:10.1093/hmg/10.4.339. PMID 11157797.
• Cheng YC, Lee CJ, Badge RM, et al. (2001). "Sox8 gene expression identifies immature glial cells in developing cerebellum and cerebellar tumours". Brain Res. Mol. Brain Res. 92 (1–2): 193–200. doi:10.1016/S0169-328X(01)00147-4. PMID 11483257.
• 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. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Gevaert K, Goethals M, Martens L, et al. (2004). "Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides". Nat. Biotechnol. 21 (5): 566–9. doi:10.1038/nbt810. PMID 12665801. S2CID 23783563.
• Schepers G, Wilson M, Wilhelm D, Koopman P (2003). "SOX8 is expressed during testis differentiation in mice and synergizes with SF1 to activate the Amh promoter in vitro". J. Biol. Chem. 278 (30): 28101–8. doi:10.1074/jbc.M304067200. PMID 12732652.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• 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. PMC 528928. PMID 15489334.
• Martin J, Han C, Gordon LA, et al. (2005). "The sequence and analysis of duplication-rich human chromosome 16" (PDF). Nature. 432 (7020): 988–94. Bibcode:2004Natur.432..988M. doi:10.1038/nature03187. PMID 15616553. S2CID 4362044.
• Wissmüller S, Kosian T, Wolf M, et al. (2006). "The high-mobility-group domain of Sox proteins interacts with DNA-binding domains of many transcription factors". Nucleic Acids Res. 34 (6): 1735–44. doi:10.1093/nar/gkl105. PMC 1421504. PMID 16582099.