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SOX10 Gene

protein-coding GIFtS: 62

GC22M021334

SRY (sex determining region Y)-box 10
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database

		Products

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
About This Section

Aliases & Descriptions
SRY (sex determining region Y)-box 10¹ ²		SRY-related HMG-box gene 10²
WS4¹ ² ⁵		OTTHUMP00000195097²
DOM¹ ²		OTTHUMP00000195094²
WS2E¹ ²		dominant megacolon, mouse, human homolog of²
PCWH² ⁵		transcription factor SOX-10²
WS4C² ⁵		MGC15649²

External Ids:	HGNC: 11190¹	Entrez Gene: 6663²	Ensembl: ENSG00000100146⁷	UniProtKB: P56693³

Export aliases for SOX10 gene to outside databases

Previous GC identifers: GC22M034982 GC22M036610 GC22M036611 GC22M036692 GC22M038366

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SOX10:

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 acts as a nucleocytoplasmic shuttle

protein and is important for neural crest and peripheral nervous system development. Mutations in this gene are

associated with Waardenburg-Shah and Waardenburg-Hirschsprung disease. (provided by RefSeq)

UniProtKB/Swiss-Prot: SOX10_HUMAN, P56693

Function: Transcription factor that seems to function synergistically with the POU domain protein TST-1/OCT6/SCIP.

Could confer cell specificity to the function of other transcription factors in developing and mature glia (By

similarity)

Gene Wiki entry for SOX10

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the SOX10 gene promoter:
         SRY   c-Myc   Max1   Max   SREBP-1a   SREBP-1c   SREBP-1b   YY1   Elk-1   CREB
         Other transcription factors

Search SABiosciences Chromatin IP Primers for SOX10

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for SOX10

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 22q13.1 Ensembl cytogenetic band: 22q13.1 HGNC cytogenetic band: 22q13.1

SOX10 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SOX10 gene location

GeneLoc gene densities for chromosome 22 GeneLoc Exon Structure

GeneLoc location for GC22M021334: view genomic region (about GC identifiers)

Start:	21,334,376 bp from pter
End:	21,346,534 bp from pter
Size:	12,159 bases
Orientation:	minus strand

1 alternative location:

Chr22- 38,366,693-38,383,429

RefSeq DNA sequence:

NC_000022.10 NT_011520.12

(According to ¹UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
About This Section

UniProtKB/Swiss-Prot: SOX10_HUMAN, P56693 (See protein sequence)

Recommended Name: Transcription factor SOX-10

Size: 466 amino acids; 49911 Da

Subcellular location: Cytoplasm. Nucleus

Explore the universe of human proteins at neXtProt for SOX10: NX_P56693

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins: NP_008872.1

ENSEMBL proteins:

ENSP00000387770 ENSP00000354130 ENSP00000399777 ENSP00000414853 ENSP00000409273 ENSP00000415987

ENSP00000380093

Human Recombinant Proteins

	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	OriGene Purified Protein: SOX10 OriGene Protein Over-expression Lysate: SOX10
	GenScript Custom Purified and Recombinant Proteins Services for SOX10
	Novus Biologicals Proteins for SOX10
	Novus Biologicals Lysates for SOX10
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins

2 Gene Ontology (GO) cellular component terms (GO ID links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	ISS	--
GO:0005737	cytoplasm	IEA	--

About this table

SOX10 for ontologies About GeneDecksing

Antibodies for SOX10:

	Millipore Mono- and Polyclonal Antibodies for the study of SOX10
	Sigma-Aldrich Antibodies for SOX10
	R&D Systems Antibodies for SOX10
	OriGene Antibodies: SOX10
	GenScript Superior Antibodies for SOX10
	Novus Biologicals Antibodies for SOX10
	Epitomics antibodies for SOX10

Assays for SOX10:

	Browse Kits and Assays available from Millipore
	Browse ELISAs at Sigma-Aldrich
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for SOX10
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for SOX10

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

SOX10 for domains About GeneDecksing

3 InterPro domains/families:

IPR022151 Sox_N

IPR000910 HMG_HMG1/HMG2

IPR009071 HMG_superfamily

Graphical View of Domain Structure for InterPro Entry P56693

ProtoNet protein and cluster: P56693

UniProtKB/Swiss-Prot: SOX10_HUMAN, P56693

Similarity: Contains 1 HMG box DNA-binding domain

(According to UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
About This Section

UniProtKB/Swiss-Prot: SOX10_HUMAN, P56693

Function: Transcription factor that seems to function synergistically with the POU domain protein TST-1/OCT6/SCIP.

Could confer cell specificity to the function of other transcription factors in developing and mature glia (By

similarity)

Inhib. RNA:		Browse for Gene Knock-down Tools from Millipore
		Browse Nano Scale siRNA at Sigma-Aldrich Sigma-Aldrich esiRNA and siRNA for SOX10 Sigma-Aldrich shRNA for SOX10
		OriGene 29mer shRNA kits in GFP-retroviral vector (see all 2): SOX10 OriGene shRNA RFP (see all 2): SOX10 OriGene basic RS shRNA (see all 2): SOX10 OriGene siRNA (see all 2): SOX10
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of SOX10

miRNA:		Sigma-Aldrich microRNA Mimics for SOX10 Browse microRNA target validation systems at Sigma-Aldrich
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of SOX10
		1 SABiosciences Assays for microRNA that regulate SOX10:
		hsa-miR-486-3p

Gene
Editing:

Browse CompoZr Knockout ZFN at Sigma-Aldrich

Clones:		Browse Clones for the Expression of Recombinant Proteins Available from Millipore
		Browse iPSC Reprogramming Factors at Sigma-Aldrich
		OriGene GFP tagged cDNA clones in CMV expression vector: SOX10 OriGene Myc/DDK tagged cDNA clones in CMV expression vector: SOX10 OriGene untagged cDNA clones in CMV expression vector (see all 2): SOX10 OriGene 3'-UTR clone: SOX10 Browse MicroRNA Expression Plasmids
		GenScript cDNA clone with any tag delivered in your preferred vector: SOX10
		Browse Sino Biological Human cDNA Clones

Cell
Lines:

GenScript Custom overexpressing Cell Line Services for SOX10

Genatlas biochemistry entry for SOX10:

SRY related HMG box gene 10,expressed in neural crest cells during early development and in glial cells of the

peripheral and central nervous system during late development and in adult,playing an essential role in the

development of neural-crest-derived human cell lineages,homolog to mouse dominant megacolon (Dom),expressed in

pancreas,prostate,ovary,stomach,spinal cord trachea,adrenal gland and brain,modulator of LINE retroposons promoter

activity

5/9 Gene Ontology (GO) molecular function terms (GO ID links to tree view) (see all 9):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003677	DNA binding	IEA	--
GO:0003682	chromatin binding	IEA	--
GO:0003700	sequence-specific DNA binding transcription factor activity	IEA	--
GO:0003702	RNA polymerase II transcription factor activity	TAS	9722528
GO:0003705	sequence-specific enhancer binding RNA polymerase II transcription factor activity	IEA	--

About this table

SOX10 for ontologies About GeneDecksing

Animal Models: 13 MGI mutant phenotypes (inferred from 11 alleles) (MGI details for Sox10):

behavior/neurological	digestive/alimentary	embryogenesis	endocrine/exocrine gland	growth/size
lethality-postnatal	lethality-prenatal/perinatal	life span-post-weaning/aging	nervous system	normal
pigmentation	skin/coat/nails	touch/vibrissae

SOX10 for phenotypes About GeneDecksing

(Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
About This Section

SOX10 for pathways About GeneDecksing

1 Millipore Pathway for SOX10

Transcription factors in neurogenesis

2 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathways for SOX10

	Melanocyte Development and Pigmentation Signaling
	Wnt/β-catenin Signaling

SABiosciences Pathway-Focused PCR Array including SOX10: PAHS-090A

Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for SOX10

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for SOX10

5/7 Interacting proteins for SOX10 (P56693^{1, 2} ENSP00000354130³) via UniProtKB, MINT, and/or STRING (see all 7)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PAX3	P23760¹, ENSP00000343052³	EBI-1167533,EBI-1167564 STRING: ENSP00000343052
NMI	Q13287¹	EBI-1167533,EBI-372942
POU3F2	P20265¹	EBI-1167533,EBI-1167176
SOX10	P56693¹	EBI-1167533,EBI-1167533
SUMO1	P63165²	MINT-1781820 MINT-1781773

About this table

5/15 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 15):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001701	in utero embryonic development	IEA	--
GO:0006355	regulation of transcription, DNA-dependent	--	--
GO:0006357	regulation of transcription from RNA polymerase II promoter	TAS	9722528
GO:0007422	peripheral nervous system development	IEA	--
GO:0009653	anatomical structure morphogenesis	TAS	9425902

About this table

SOX10 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

SOX10 for compounds About GeneDecksing

Browse Small Molecules at Sigma-Aldrich

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for SOX10
1 Novoseek chemical compound relationship for SOX10 gene

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
dopachrome	61.2	4	14706856 (2), 17702866 (1)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Millipore,
siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
About This Section

Inhib. RNA:		Browse for Gene Knock-down Tools from Millipore
		Browse Nano Scale siRNA at Sigma-Aldrich Sigma-Aldrich esiRNA and siRNA for SOX10 Sigma-Aldrich shRNA for SOX10
		OriGene 29mer shRNA kits in GFP-retroviral vector (see all 2): SOX10 OriGene shRNA RFP (see all 2): SOX10 OriGene basic RS shRNA (see all 2): SOX10 OriGene siRNA (see all 2): SOX10
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of SOX10

miRNA:		Sigma-Aldrich microRNA Mimics for SOX10 Browse microRNA target validation systems at Sigma-Aldrich
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of SOX10
		1 SABiosciences Assays for microRNA that regulate SOX10:
		hsa-miR-486-3p

Clones:		Browse FLAG tag genes at Sigma-Aldrich
		OriGene GFP tagged cDNA clones in CMV expression vector: SOX10 OriGene Myc/DDK tagged cDNA clones in CMV expression vector: SOX10 OriGene untagged cDNA clones in CMV expression vector (see all 2): SOX10 OriGene 3'-UTR Clone: SOX10 Browse OriGene MicroRNA Expression Plasmids
		GenScript cDNA clone with any tag delivered in your preferred vector: SOX10

Primers:		OriGene genome-wide validated SYBR primer pairs: SOX10 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay for SOX10: PPH02458A

REFSEQ mRNAs for SOX10 gene:

NM_006941.3

Additional cDNA sequence:

AJ001183.1 AK300945.1 AK310896.1 BC002824.2 BC007595.1 BC018808.2 BT020029.1 CR456584.1

CR536571.1

8 DOTS entries:

DT.443371 DT.97855387 DT.120675719 DT.100744195 DT.92068729 DT.91676437 DT.120675721 DT.100741894

24/163 AceView cDNA sequences (see all 163):

BE856412 BQ230293 NM_006941 CF454503 BQ028363 BM904964 BC007595 BU732691

BU172978 BF514970 D31042 BU150088 D31002 BM686200 AA424514 BU173103

BM662786 BC018808 Z41097 CR456584 AI091073 BE207367 BE303023 BM471123

highest scoring ESTs for SOX10:

AJ001183 AL120196 BC007595 BC018808 BE302440 BE303023 BG033218 BG334183 BG767546 BG912495

Unigene Cluster for SOX10:

SRY (sex determining region Y)-box 10

Hs.376984 [show with all ESTs]

Unigene Representative Sequence: BC018808

GeneLoc Exon Structure

8 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000416937 ENST00000360880(uc003auo.1) ENST00000446929 ENST00000470555

ENST00000427770 ENST00000414471 ENST00000435010(uc010gxj.2) ENST00000396884(uc003aun.1)

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Primers from OriGene and/or SABiosciences )
About This Section

SOX10 expression in normal and diseased human tissues

¹ / ² / ³

5 probe-sets matching SOX10 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
36018_at²^{, 3}	U95-A	1	0.88	1.00	1.00	1.00	AJ001183	1.00	1.00	1.00	1
209842_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AI367319	0.40	1.00	0.76	1
209843_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	BC002824	0.60	1.00	0.82	1
209842_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
209843_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

About this table

SOX10 for expression About GeneDecksing

Data from Genenote (Publications) and GNF BioGPS
About these images

SOX10 gene electronic northern expression

About these images

CGAP SAGE TAG: TAACTCATTA

SOURCE GeneReport for Unigene cluster: Hs.376984

UniProtKB/Swiss-Prot: SOX10_HUMAN, P56693

Tissue specificity: Expressed in fetal brain and in adult brain, heart, small intestine and colon

Primers:		OriGene genome-wide validated SYBR primer pairs: SOX10 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay for SOX10: PPH02458A

SABiosciences Expression via Pathway-Focused PCR Array including SOX10: PAHS-090A

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for SOX10 gene from 5/10 species (see all 10)

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	SOX10¹	--	SRY (sex determining region Y)-box 10	94.56(n) 99.14(a)	481258 XM_538379.2 XP_538379.2
chimpanzee (Pan troglodytes)	SOX10¹	--	SRY (sex determining region Y)-box 10	99.41(n) 99.29(a)	470206 XM_525590.2 XP_525590.2
cow (Bos taurus)	SOX10¹	--	SRY (sex determining region Y)-box 10	93.13(n) 98.71(a)	353115 XM_879306.2 XP_884399.2
rat (Rattus norvegicus)	Sox10¹	--	SRY (sex determining region Y)-box 10	91.49(n) 97.42(a)	29361 NM_019193.1 NP_062066.1
mouse (Mus musculus)	Sox10^{1 , 5}	15 (37.70 cM)⁵	SRY-box containing gene 10^{1, 5}	91.42(n)¹ 98.5(a)¹	20665¹ XM_128139.6¹ XP_128139.5¹ AF017182⁵ AF047043⁵ (see all 36)

About this table Species with no ortholog for SOX10

ENSEMBL Gene Tree for SOX10 (if available)

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

Paralogs for SOX10 gene

SOX13² SOX5² SOX9² SOX6² SOX8²

SOX10 for paralogs About GeneDecksing

(SNPs according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
About This Section

SNP ID	Valid	Chr 22 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
Genomic Data				Transcription Related Data				Allele Frequencies
			--	--	--		--	--
rs139883^1,2	C,F,O,A,	38369027(+)	`AGCTCT/CGGGCA`	1	--	ut3¹ ese³		14		MN NS EA NA WA	1812
rs139884^1,2	C,F,O,A,	38369976(+)	`CTCACG/ATGGCC`	2	/H	syn¹ ref¹		21		EA NA MN NS WA	2056
rs139885^1,2	C,F,A,H,	38371039(+)	`TCATAT/CGCTGG`	1	--	int¹		9		MN EA NS NA WA	560
rs139886^1,2	C,F,A,H,	38371328(+)	`ggagaT/Ccagag`	1	--	int¹		10		MN NS EA NA WA	614
rs139887^1,2	C,F,A,H,	38371396(+)	`tgagtC/Ggggtg`	1	--	int¹		21		EA NA MN NS WA	1430
rs2744981^1,2	--	38381859(+)	`acacaC/Tatgct`	1	--	ng5¹		0	--	--	--	--
rs3026645^1,2	C,F,O,	38375839(+)	`TGGTAC/GTGAGA`	1	--	int¹		14		NA NS EA	1294
rs3026646^1,2	--	38376780(+)	`TGATTC/GCTCAC`	1	--	int¹		0	--	--	--	--
rs3026647^1,2	C,F,	38377246(+)	`CAGCTT/CGGGGA`	1	--	int¹		5		NS EA WA	468
rs3026648^1,2	C,	38377847(+)	`TGGTCA/GCTGAG`	1	--	int¹		0	--	--	--	--

About this table

HapMap Linkage Disequilibrium images for SOX10 (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for SOX10: --

QIAGEN SeqTarget long-range PCR primers for resequencing SOX10

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
About This Section

SOX10 for disorders About GeneDecksing

OMIM: 602229 disorders: 613266 611584 609136

UniProtKB/Swiss-Prot: SOX10_HUMAN, P56693

Defects in SOX10 are the cause of Waardenburg syndrome type 2E (WS2E) [MIM:611584]. WS2 is a genetically

heterogeneous, autosomal dominant disorder characterized by sensorineural deafness, pigmentary disturbances, and

absence of dystopia canthorum. The frequency of deafness is higher in WS2 than in WS1

Defects in SOX10 are a cause of Waardenburg syndrome type 4C (WS4C) [MIM:613266]; also known as

Waardenburg-Shah syndrome. WS4C is characterized by the association of Waardenburg features (depigmentation and

deafness) and the absence of enteric ganglia in the distal part of the intestine (Hirschsprung disease)

Defects in SOX10 are a cause of Yemenite deaf-blind hypopigmentation syndrome (YDBHS) [MIM:601706]. YDBHS

consists of cutaneous hypopigmented and hyperpigmented spots and patches, microcornea, coloboma and severe hearing

loss. Another case observed in a girl with similar skin symptoms and hearing loss but without microcornea or coloboma

is reported as a mild form of this syndrome

Defects in SOX10 are the cause of peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy,

Waardenburg syndrome, and Hirschsprung disease (PCWH) [MIM:609136]; also called neurologic variant of Waardenburg-Shah

syndrome. PCWH is a rare, complex and more severe neurocristopathy that includes features of 4 distinct syndromes:

peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung

disease

10/22 Novoseek disease relationships for SOX10 gene (see all 22)

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
shah-waardenburg syndrome	97.6	25	12447940 (2), 10876038 (1), 20130826 (1), 9462749 (1) (see all 21)
waardenburgs syndrome	91.9	14	16504559 (2), 10982026 (2), 18348267 (2), 17855451 (1) (see all 11)
yemenite deaf-blind hypopigmentation syndrome	89.4	3	10441344 (2), 16921166 (1)
hirschsprung disease	87.6	33	15294878 (3), 20130826 (2), 15843399 (2), 16330480 (2) (see all 18)
leukodystrophy	69.5	4	17855451 (1), 16504559 (1), 20308050 (1), 17999358 (1)
campomelic dysplasia	68.8	1	10798354 (1)
charcot-marie-tooth disease	61.9	2	11734543 (2)
congenital disorders	60.4	1	20130826 (1)
colonic aganglionosis	59.4	1	11685702 (1)
oligodendroglioma	56.2	2	17146289 (1), 17442061 (1)

About this table

Locus Specific Mutation Databases (LSDB): SOX10
Human Gene Mutation Database (HGMD): SOX10
Genetic Association Database (GAD): SOX10
Human Genome Epidemiology (HuGE) Navigator: SOX10 (5 documents)

Export disorders and mutations for SOX10 gene to outside databases

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶UniProtKB/TrEMBL, and/or ⁷Novoseek)
About This Section

10/175 PubMed articles for SOX10 gene, integrated from 7 sources (see all 175):
(articles sorted by number of sources associating them with SOX10)

A molecular analysis of the Yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies. (PubMed id 10441344)^{1, 2, 3, 7} Bondurand N....Goossens M. (1999)
SOX10 mutations in patients with Waardenburg-Hirschsprung disease. (PubMed id 9462749)^{1, 2, 3, 7} Pingault V.... Goossens M. (1998)
Functional analysis of Sox10 mutations found in human Waardenburg- Hirschsprung patients. (PubMed id 9722528)^{1, 2, 7} Kuhlbrodt K.... Wegner M. (1998)
A tissue-restricted cAMP transcriptional response: SOX10 modulates alpha-melanocyte-stimulating hormone-triggered expression of microphthalmia-associated transcription factor in melanocytes. (PubMed id 12944398)^{1, 3, 7} Huber W.E....Fisher D.E. (2003)
Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4. (PubMed id 17999358)^{1, 2, 7} Bondurand N.... Pingault V. (2007)
Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain. (PubMed id 10762540)^{1, 2, 7} Touraine R.L.... Lyonnet S. (2000)
Myelin deficiencies in both the central and the peripheral nervous systems associated with a SOX10 mutation. (PubMed id 10482261)^{1, 4, 7} Inoue K....Lupski J.R. (1999)
The SOX10/Sox10 gene from human and mouse: sequence, expression, and transactivation by the encoded HMG domain transcription factor. (PubMed id 9760192)^{1, 2, 7} Pusch C.... Scherer G. (1998)
A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)^{1, 2} Collins J.E.... Dunham I. (2004)
Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations. (PubMed id 15004559)^{1, 2} Inoue K....Lupski J.R. (2004)

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Entrez Gene: 6663	HGNC: 11190	AceView: SOX10	Ensembl:ENSG00000100146	euGenes: HUgn6663
ECgene: SOX10	H-InvDB: SOX10

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Leukodystrophy
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SHAH-WAARDENBURG SYNDROME
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