SOX10 SRY-box transcription factor 10 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SOX10provided by HGNC
Official Full Name: SRY-box transcription factor 10provided by HGNC
Primary source: HGNC:HGNC:11190
See related: Ensembl:ENSG00000100146 MIM:602229; AllianceGenome:HGNC:11190
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; SOX-10
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]
Expression: Biased expression in salivary gland (RPKM 23.7), brain (RPKM 19.6) and 7 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 22q13.1

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (37972312..37984555, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (38433934..38446177, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (38368319..38380562, complement)

Chromosome 22 - NC_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Waardenburg syndrome type 2 with a de novo variant of the SOX10 gene: a case report.
Title: Waardenburg syndrome type 2 with a de novo variant of the SOX10 gene: a case report.
A novel frameshift mutation in SOX10 gene induced Waardenburg syndrome type II.
Title: A novel frameshift mutation in SOX10 gene induced Waardenburg syndrome type II.
SOX10-Internal Tandem Duplications and PLAG1 or HMGA2 Fusions Segregate Eccrine-Type and Apocrine-Type Cutaneous Mixed Tumors.
Title: SOX10-Internal Tandem Duplications and PLAG1 or HMGA2 Fusions Segregate Eccrine-Type and Apocrine-Type Cutaneous Mixed Tumors.
Aberrant SOX10 and RET expressions in patients with Hirschsprung disease.
Title: Aberrant SOX10 and RET expressions in patients with Hirschsprung disease.
SOX10 Loss Sensitizes Melanoma Cells to Cytokine-Mediated Inflammatory Cell Death.
Title: SOX10 Loss Sensitizes Melanoma Cells to Cytokine-Mediated Inflammatory Cell Death.
Novel SOX10 indel mutations drive schwannomas through impaired transactivation of myelination gene programs.
Title: Novel SOX10 indel mutations drive schwannomas through impaired transactivation of myelination gene programs.
[Genetic testing and prenatal diagnosis for a Chinese pedigree affected with Waardenburg syndrome type 4C due to heterozygous deletion of SOX10 gene].
Title: [Genetic testing and prenatal diagnosis for a Chinese pedigree affected with Waardenburg syndrome type 4C due to heterozygous deletion of SOX10 gene].
Somatic mosaic SOX10 indel mutations underlie a form of segmental schwannomatosis.
Title: Somatic mosaic SOX10 indel mutations underlie a form of segmental schwannomatosis.
SOX10.
Title: SOX10.
LRP5, SLC6A3, and SOX10 Expression in Conventional Ameloblastoma.
Title: LRP5, SLC6A3, and SOX10 Expression in Conventional Ameloblastoma.

Submit: New GeneRIF Correction See all GeneRIFs (196)

Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
PCWH syndrome MedGen: C1836727 OMIM: 609136 GeneReviews: Not available	Compare labs
Waardenburg syndrome type 2E MedGen: C2700405 OMIM: 611584 GeneReviews: Not available	Compare labs
Waardenburg syndrome type 4C MedGen: C2750452 OMIM: 613266 GeneReviews: Not available	Compare labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2013-07-18) ClinGen Genome Curation Page Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2013-07-18) ClinGen Genome Curation PagePubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables DNA-binding transcription activator activity	ISS Inferred from Sequence or Structural Similarity more info
enables DNA-binding transcription activator activity, RNA polymerase II-specific	TAS Traceable Author Statement more info	PubMed
enables DNA-binding transcription factor activity	ISS Inferred from Sequence or Structural Similarity more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables DNA-binding transcription factor binding	IEA Inferred from Electronic Annotation more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables promoter-specific chromatin binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables transcription cis-regulatory region binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in anatomical structure morphogenesis	TAS Traceable Author Statement more info	PubMed
involved_in cell maturation	IEA Inferred from Electronic Annotation more info
involved_in cellular response to progesterone stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info
involved_in central nervous system myelination	ISS Inferred from Sequence or Structural Similarity more info
involved_in developmental growth	IEA Inferred from Electronic Annotation more info
involved_in digestive tract morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in enteric nervous system development	IBA Inferred from Biological aspect of Ancestor more info
involved_in in utero embryonic development	IEA Inferred from Electronic Annotation more info
involved_in lacrimal gland development	IEA Inferred from Electronic Annotation more info
involved_in melanocyte differentiation	IEA Inferred from Electronic Annotation more info
involved_in morphogenesis of a branching epithelium	IEA Inferred from Electronic Annotation more info
involved_in morphogenesis of an epithelium	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of Schwann cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of canonical Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in neural crest cell migration	IBA Inferred from Biological aspect of Ancestor more info
involved_in neuroblast proliferation	IEA Inferred from Electronic Annotation more info
involved_in oligodendrocyte development	ISS Inferred from Sequence or Structural Similarity more info
involved_in oligodendrocyte differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in peripheral nervous system development	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of DNA-templated transcription	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of gene expression	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of gliogenesis	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of myelination	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of neuroblast proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in regulation of transcription by RNA polymerase II	TAS Traceable Author Statement more info	PubMed
involved_in transcription elongation by RNA polymerase II	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in chromatin	ISA Inferred from Sequence Alignment more info
located_in mitochondrial outer membrane	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: transcription factor SOX-10

Names: SRY (sex determining region Y)-box 10; SRY-box 10; SRY-related HMG-box gene 10; dominant megacolon, mouse, human homolog of

NCBI Reference Sequences (RefSeq)

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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_006941.4 → NP_008872.1 transcription factor SOX-10

See identical proteins and their annotated locations for NP_008872.1

Status: REVIEWED

Source sequence(s)

AL031587

Consensus CDS

CCDS13964.1

UniProtKB/Swiss-Prot

B4DV62, P56693, Q6FHW7

UniProtKB/TrEMBL

A0A8V8TM01

Related

ENSP00000380093.2, ENST00000396884.8

Conserved Domains (2) summary

cd01388
Location:103 → 173

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:12 → 93

Sox_N; Sox developmental protein N terminal