SOX10 SRY (sex determining region Y)-box 10 [Homo sapiens (human)] - Gene

Summary

Go to the top of the page Help

Official Symbol: SOX10provided by HGNC
Official Full Name: SRY (sex determining region Y)-box 10provided by HGNC
Primary source: HGNC:11190
Locus tag: RP5-1039K5.9
See related: Ensembl:ENSG00000100146; HPRD:03752; MIM:602229; Vega:OTTHUMG00000149913
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DOM; WS4; PCWH; WS2E; WS4C
Summary: 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, Jul 2008]

Genomic context

Go to the top of the page Help

Location :: 22q13.1

Sequence :: Chromosome: 22; NC_000022.10 (38368319..38380539, complement)

See SOX10 in Epigenomics, MapViewer

Chromosome 22 - NC_000022.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Our results demonstrate that Sox10 is a sensitive marker for Sinonasal mucosal melanomas
Title: Expression of Sox10 and c-kit in sinonasal mucosal melanomas arising in the Chinese population.
Sox10 is a sensitive and specific marker for the prototypical granular cell tumour and may be used as an alternative or additional marker for this distinct tumour.
Title: Sox10 immunohistochemistry allows the pathologist to differentiate between prototypical granular cell tumors and other granular cell lesions.
Loss of the SOX10 protein is key to the pathology of Merlin-null schwannoma tumors.
Title: Loss of SOX10 function contributes to the phenotype of human Merlin-null schwannoma cells.
deletions and point mutations within the MITF and SOX10 regulatory elements in 28 yet unexplained Waardenburg syndrome type 2 cases
Title: Screening of MITF and SOX10 regulatory regions in Waardenburg syndrome type 2.
Immunoreactivity with Sox10 was observed in 100% (83/83) of benign and malignant melanocytic lesions of various subtypes, as well as in 100% (19/19) of benign and malignant peripheral nerve sheath lesions.
Title: Sox10 is expressed in primary melanocytic neoplasms of various histologies but not in fibrohistiocytic proliferations and histiocytoses.
In addition to its many roles in Schwann cells, Sox10 is also important for the integrity of the boundary between central and peripheral nervous systems.
Title: Establishment of myelinating Schwann cells and barrier integrity between central and peripheral nervous systems depend on Sox10.
the SOX10 rs139887 polymorphism was related to the development of schizophrenia in a gender-specific manner, and may be a significant genetic marker for managing subgroups and etiological clues in schizophrenia.
Title: Effect of SOX10 gene polymorphism on early onset schizophrenia in Chinese Han population.
virtually all congenital naevi and melanomas are SOX10 positive. Furthermore, SOX10 silencing in melanoma cells suppresses neural crest stem cell properties, counteracts proliferation and cell survival, and completely abolishes in vivo tumour formation
Title: Sox10 promotes the formation and maintenance of giant congenital naevi and melanoma.
This study demonistrated that Desert hedgehog links transcription factor Sox10 to peripheral nerve development.
Title: Desert hedgehog links transcription factor Sox10 to perineurial development.
Here, we further identified an E248fsX30 SOX10 mutation in a family of WS2.
Title: Functional analysis of Waardenburg syndrome-associated PAX3 and SOX10 mutations: report of a dominant-negative SOX10 mutation in Waardenburg syndrome type II.

Submit: New GeneRIF Correction See all (52)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease

MIM: 609136

Genetic Testing Registry

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Source	Pubs	Description
NP_008872.1		PAX3	BIND	PubMed	Pax3 interacts with Sox10.
NP_008872.1	NP_005595.2	POU3F2	BIND	PubMed	Brn-2 interacts with Sox10.
NP_008872.1	NP_008872.1	SOX10	BIND	PubMed	Sox10 forms a homodimer.
P56693	Q9H161	ALX4	HPRD	PubMed
P56693	P49715	CEBPA	HPRD	PubMed
P56693	P56178	DLX5	HPRD	PubMed
P56693	P11161	EGR2	HPRD	PubMed
P56693	Q03014	HHEX	HPRD	PubMed
P56693	P15822	HIVEP1	HPRD	PubMed
P56693	O43365	HOXA3	HPRD	PubMed
P56693	P09017	HOXC4	HPRD	PubMed
P56693	P05412	JUN	HPRD	PubMed
P56693	P50221	MEOX1	HPRD	PubMed
P56693	Q13287	NMI	HPRD	PubMed
P56693	Q13516	OLIG2	HPRD	PubMed
P56693	P23760	PAX3	HPRD	PubMed
P56693	P26367	PAX6	HPRD	PubMed
P56693	P20265	POU3F2	HPRD	PubMed
P56693	P20264	POU3F3	HPRD	PubMed
P56693	Q01860	POU5F1	HPRD	PubMed
P56693	P54821	PRRX1	HPRD	PubMed
P56693	Q99811	PRRX2	HPRD	PubMed
P56693	P56693	SOX10	HPRD	PubMed
P56693	P08047	SP1	HPRD	PubMed
P56693	P63165	SUMO1	HPRD	PubMed
P56693	P61956	SUMO2	HPRD	PubMed
P56693	P55854	SUMO3	HPRD	PubMed
P56693	Q99081	TCF12	HPRD	PubMed
P56693	P63279	UBE2I	HPRD	PubMed
P56693	Q5T230	UTF1	HPRD	PubMed
BioGRID:112546	BioGRID:107456	CDK6	BioGRID	PubMed	Biochemical Activity
BioGRID:112546	BioGRID:108348	EPAS1	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western
BioGRID:112546	BioGRID:115884	EXOC5	BioGRID	PubMed	Two-hybrid
BioGRID:112546	BioGRID:114561	NMI	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid
BioGRID:112546	BioGRID:111111	PAX3	BioGRID	PubMed	Affinity Capture-Western; Phenotypic Enhancement; Reconstituted Complex
BioGRID:112546	BioGRID:111450	POU3F2	BioGRID	PubMed	Two-hybrid
BioGRID:112546	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS

Pathways from BioSystems

Go to the top of the page Help

Neural Crest Differentiation, organism-specific biosystem (from WikiPathways)
Neural Crest Differentiation, organism-specific biosystemGene regulatory network model of cranial neural crest cell (CNCC) development, adaped from PMID: 19575671. Most interactions in the model are proposed to regulate transcription of core factors involv...

General gene information

Go to the top of the page Help

Markers

STS-N32174 (e-PCR)
- UniSTS:81415

D22S1156 (e-PCR), detects polymorphism
- UniSTS:70546

SOX10_1580 (e-PCR)
- UniSTS:277759

SOX10_v554 (e-PCR)
- UniSTS:277759

Genotypes

See SOX10 SNP Geneview Report
See SOX10 SNP Genotype Report
See SOX10 SNP Variation Viewer Report

Homology

Homologs of the SOX10 gene: The SOX10 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, and zebrafish.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
RNA polymerase II core promoter proximal region sequence-specific DNA binding	IEA Inferred from Electronic Annotation more info
RNA polymerase II distal enhancer sequence-specific DNA binding	IEA Inferred from Electronic Annotation more info
RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity	IEA Inferred from Electronic Annotation more info
chromatin binding	IEA Inferred from Electronic Annotation more info
identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed
transcription coactivator activity	TAS Traceable Author Statement more info	PubMed
transcription factor binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
anatomical structure morphogenesis	TAS Traceable Author Statement more info	PubMed
cell maturation	IEA Inferred from Electronic Annotation more info
developmental growth	IEA Inferred from Electronic Annotation more info
digestive tract morphogenesis	IEA Inferred from Electronic Annotation more info
enteric nervous system development	IEA Inferred from Electronic Annotation more info
in utero embryonic development	IEA Inferred from Electronic Annotation more info
melanocyte differentiation	IEA Inferred from Electronic Annotation more info
negative regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
negative regulation of canonical Wnt receptor signaling pathway	IEA Inferred from Electronic Annotation more info
negative regulation of transcription, DNA-dependent	IEA Inferred from Electronic Annotation more info
neural crest cell migration	IEA Inferred from Electronic Annotation more info
oligodendrocyte differentiation	IEA Inferred from Electronic Annotation more info
peripheral nervous system development	IEA Inferred from Electronic Annotation more info
positive regulation of gliogenesis	IEA Inferred from Electronic Annotation more info
positive regulation of neuroblast proliferation	IEA Inferred from Electronic Annotation more info
positive regulation of transcription from RNA polymerase II promoter	IEA Inferred from Electronic Annotation more info
regulation of transcription from RNA polymerase II promoter	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
extrinsic to mitochondrial outer membrane	IEA Inferred from Electronic Annotation more info
nucleus	IDA Inferred from Direct Assay more info	PubMed
nucleus	ISS Inferred from Sequence or Structural Similarity more info

General protein information

Go to the top of the page Help

Preferred Names: transcription factor SOX-10

Names: transcription factor SOX-10; SRY-related HMG-box gene 10; dominant megacolon, mouse, human homolog of

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_007948.1 RefSeqGene

Range

5001..17221

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_271

mRNA and Protein(s)

NM_006941.3 → NP_008872.1 transcription factor SOX-10

Status: REVIEWED

Source sequence(s)

BC007595

Consensus CDS

CCDS13964.1

UniProtKB/Swiss-Prot

P56693

Related

ENSP00000380093, OTTHUMP00000195095, ENST00000396884, OTTHUMT00000313875

Conserved Domains (2) summary

cd01388
Location:103 – 173
Blast Score: 245

SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...

pfam12444
Location:52 – 94
Blast Score: 184

Sox_N; Sox developmental protein N terminal

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000022.10 Reference GRCh37.p10 Primary Assembly

Range

38368319..38380539, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000154.1 Alternate HuRef

Range

21334376..21346534, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018933.1 Alternate CHM1_1.0

Range

22285323..22297543, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01055496.1	None
genomic	ABBA01055497.1 (87..7296)	None
genomic	AL031587.3 (29590..41810)	None
genomic	AMYH01012758.1 (49601..61821)	None
genomic	CH471095.1	EAW60204.1
		EAW60205.1
mRNA	AJ001183.1	CAA04576.1
mRNA	AK300945.1	BAG62574.1
mRNA	BC002824.2	AAH02824.1
mRNA	BC007595.1	AAH07595.1
mRNA	BC018808.2	None
mRNA	BT020029.1	AAV38832.1
mRNA	CR456584.1	CAG30470.1
mRNA	CR536571.1	CAG38808.1
other-genetic	CU013183.1	CAK54614.1
other-genetic	CU013471.1	CAK54913.1
other-genetic	DQ893172.2	ABM84098.1
other-genetic	DQ896471.2	ABM87470.1