SOX8

SOX8
Identifiers
Aliases	SOX8 , SRY-box 8, SRY-box transcription factor 8
External IDs	OMIM: 605923 MGI: 98370 HomoloGene: 7950 GeneCards: SOX8
Gene location (Human)
Chr.	Chromosome 16 (human)
End	986,979 bp
Gene location (Mouse)
Chr.	Chromosome 17 (mouse)
End	25,789,660 bp
RNA expression pattern
	Top expressed in
	inferior ganglion of vagus nerve; ; external globus pallidus; ; subthalamic nucleus; ; parotid gland; ; ventral tegmental area; ; medulla oblongata; ; spinal cord; ; superior vestibular nucleus; ; putamen; ; postcentral gyrus;
	Top expressed in
	metatarsal bones; ; Bowman's capsule; ; visual cortex; ; secondary oocyte; ; superior frontal gyrus; ; footplate; ; urethra; ; male urethra; ; Sertoli cell; ; anterior horn of spinal cord;
	More reference expression data
	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
	30812
	20681
	ENSG00000005513
	ENSMUSG00000024176
	P57073
	Q04886
	NM_014587
	NM_011447
	NP_055402
	NP_035577
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated October 29, 2022

Transcription factor SOX-8 is a protein that in humans is encoded by the SOX8 gene.^[5]^[6]^[7]

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 mental retardation found in haemoglobin H-related mental retardation (ATR-16 syndrome).^[7]

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.

SRY -box 2, also known as SOX2, is a transcription factor that is essential for maintaining self-renewal, or pluripotency, of undifferentiated embryonic stem cells. Sox2 has a critical role in maintenance of embryonic and neural stem cells.

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

Transcription factor 12 is a protein that in humans is encoded by the TCF12 gene.

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.

CAMP responsive element binding protein-like 1, also known as CREBL1, is a protein which in humans is encoded by the CREBL1 gene.

Transcription factor SOX-11 is a protein that in humans is encoded by the SOX11 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-14 is a protein that in humans is encoded by the SOX14 gene.

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.

Early growth response protein 4 (EGR-4), also known as AT133, is a protein that in humans is encoded by the EGR4 gene.

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

SRY-box 7 is a protein that in humans is encoded by the SOX7 gene.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000005513 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000024176 - 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.
↑ Pfeifer D, Poulat F, Holinski-Feder E, Kooy F, Scherer G (Apr 2000). "The SOX8 gene is located within 700 kb of the tip of chromosome 16p and is deleted in a patient with ATR-16 syndrome". Genomics. 63 (1): 108–16. doi:10.1006/geno.1999.6060. PMID 10662550.
↑ Schepers GE, Bullejos M, Hosking BM, Koopman P (Apr 2000). "Cloning and characterisation of the Sry-related transcription factor gene Sox8". Nucleic Acids Res. 28 (6): 1473–80. doi:10.1093/nar/28.6.1473. PMC 111037 . PMID 10684944.
1 2 "Entrez Gene: SOX8 SRY (sex determining region Y)-box 8".

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.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000005513 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000024176 - 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.

[pmid10662550-5] Pfeifer D, Poulat F, Holinski-Feder E, Kooy F, Scherer G (Apr 2000). "The SOX8 gene is located within 700 kb of the tip of chromosome 16p and is deleted in a patient with ATR-16 syndrome". Genomics. 63 (1): 108–16. doi:10.1006/geno.1999.6060. PMID 10662550.

[pmid10684944-6] Schepers GE, Bullejos M, Hosking BM, Koopman P (Apr 2000). "Cloning and characterisation of the Sry-related transcription factor gene Sox8". Nucleic Acids Res. 28 (6): 1473–80. doi:10.1093/nar/28.6.1473. PMC 111037 . PMID 10684944.

[entrez-7] 1 2 "Entrez Gene: SOX8 SRY (sex determining region Y)-box 8".

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SOX8

Contents

See also

Related Research Articles

References

Further reading