SOX10

SOX10
Identifiers
Aliases	SOX10, DOM, PCWH, WS2E, WS4, WS4C, SRY-box 10, SRY-box transcription factor 10, SOX-10
External IDs	OMIM: 602229; MGI: 98358; HomoloGene: 5055; GeneCards: SOX10; OMA:SOX10 - orthologs
Gene location (Human)
Chr.	Chromosome 22 (human)
End	37,987,422 bp
Gene location (Mouse)
Chr.	Chromosome 15 (mouse)
End	79,049,440 bp
RNA expression pattern
	Top expressed in
	inferior olivary nucleus; ; sural nerve; ; dorsal motor nucleus of vagus nerve; ; inferior ganglion of vagus nerve; ; trigeminal ganglion; ; spinal ganglia; ; C1 segment; ; subthalamic nucleus; ; ventral tegmental area; ; parotid gland;
	Top expressed in
	vestibular membrane of cochlear duct; ; neural crest; ; external carotid artery; ; motor neuron; ; parotid gland; ; internal carotid artery; ; optic nerve; ; stria vascularis; ; vestibular sensory epithelium; ; lactiferous gland;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	transcription coactivator activity; transcription factor binding; chromatin binding; protein binding; identical protein binding; promoter-specific chromatin binding; DNA binding; DNA-binding transcription factor activity; DNA-binding transcription factor activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding; DNA-binding transcription activator activity, RNA polymerase II-specific; transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding;
Cellular component	cytoplasm; nucleoplasm; nucleus; chromatin; mitochondrion; mitochondrial outer membrane; membrane; extrinsic component of mitochondrial outer membrane;
Biological process	regulation of transcription, DNA-templated; regulation of transcription by RNA polymerase II; anatomical structure morphogenesis; transcription, DNA-templated; stem cell differentiation; negative regulation of transcription, DNA-templated; transcription elongation from RNA polymerase II promoter; negative regulation of Schwann cell proliferation; positive regulation of gene expression; positive regulation of myelination; cellular response to progesterone stimulus; positive regulation of transcription, DNA-templated; oligodendrocyte development; central nervous system myelination; oligodendrocyte differentiation; in utero embryonic development; neural crest cell migration; morphogenesis of an epithelium; positive regulation of neuroblast proliferation; central nervous system development; peripheral nervous system development; positive regulation of gliogenesis; cell differentiation; melanocyte differentiation; lacrimal gland development; negative regulation of apoptotic process; positive regulation of transcription by RNA polymerase II; cell maturation; enteric nervous system development; digestive tract morphogenesis; developmental growth; morphogenesis of a branching epithelium; negative regulation of canonical Wnt signaling pathway;
	Sources:Amigo / QuickGO
Orthologs
	6663
	20665
	ENSG00000100146
	ENSMUSG00000033006
	P56693
	Q04888
	NM_006941
	NM_011437
	NP_008872
	NP_035567
	Wikidata
View/Edit Human	View/Edit Mouse

Transcription factor SOX-10 is a protein that in humans is encoded by the SOX10 gene.^[5]^[6]^[7]^[8]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000100146 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000033006 – 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.
^ Pingault V, Bondurand N, Kuhlbrodt K, Goerich DE, Préhu MO, Puliti A, Herbarth B, Hermans-Borgmeyer I, Legius E, Matthijs G, Amiel J, Lyonnet S, Ceccherini I, Romeo G, Smith JC, Read AP, Wegner M, Goossens M (Feb 1998). "SOX10 mutations in patients with Waardenburg-Hirschsprung disease". Nature Genetics. 18 (2): 171–3. doi:10.1038/ng0298-171. PMID 9462749. S2CID 2327032.
^ Bondurand N, Kuhlbrodt K, Pingault V, Enderich J, Sajus M, Tommerup N, Warburg M, Hennekam RC, Read AP, Wegner M, Goossens M (Sep 1999). "A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies". Human Molecular Genetics. 8 (9): 1785–9. doi:10.1093/hmg/8.9.1785. PMID 10441344.
^ Huber WE, Price ER, Widlund HR, Du J, Davis IJ, Wegner M, Fisher DE (Nov 2003). "A tissue-restricted cAMP transcriptional response: SOX10 modulates alpha-melanocyte-stimulating hormone-triggered expression of microphthalmia-associated transcription factor in melanocytes". The Journal of Biological Chemistry. 278 (46): 45224–30. doi:10.1074/jbc.M309036200. PMID 12944398.
^ "Entrez Gene: SOX10 SRY (sex determining region Y)-box 10".

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000100146 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000033006 – 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.

[pmid9462749-5] Pingault V, Bondurand N, Kuhlbrodt K, Goerich DE, Préhu MO, Puliti A, Herbarth B, Hermans-Borgmeyer I, Legius E, Matthijs G, Amiel J, Lyonnet S, Ceccherini I, Romeo G, Smith JC, Read AP, Wegner M, Goossens M (Feb 1998). "SOX10 mutations in patients with Waardenburg-Hirschsprung disease". Nature Genetics. 18 (2): 171–3. doi:10.1038/ng0298-171. PMID 9462749. S2CID 2327032.

[pmid10441344-6] Bondurand N, Kuhlbrodt K, Pingault V, Enderich J, Sajus M, Tommerup N, Warburg M, Hennekam RC, Read AP, Wegner M, Goossens M (Sep 1999). "A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies". Human Molecular Genetics. 8 (9): 1785–9. doi:10.1093/hmg/8.9.1785. PMID 10441344.

[pmid12944398-7] Huber WE, Price ER, Widlund HR, Du J, Davis IJ, Wegner M, Fisher DE (Nov 2003). "A tissue-restricted cAMP transcriptional response: SOX10 modulates alpha-melanocyte-stimulating hormone-triggered expression of microphthalmia-associated transcription factor in melanocytes". The Journal of Biological Chemistry. 278 (46): 45224–30. doi:10.1074/jbc.M309036200. PMID 12944398.

[entrez-8] "Entrez Gene: SOX10 SRY (sex determining region Y)-box 10".

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