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

Gene ID: 6663, updated on 17-Jun-2019

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
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]
Expression
Biased expression in salivary gland (RPKM 23.7), brain (RPKM 19.6) and 7 other tissues See more
Orthologs

Genomic context

See SOX10 in Genome Data Viewer
Location:
22q13.1
Exon count:
4
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (37972312..37984532, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (38368319..38380556, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene chromosome 22 open reading frame 23 Neighboring gene RNA polymerase II subunit F Neighboring gene microRNA 6820 Neighboring gene VISTA enhancer hs564 Neighboring gene microRNA 4534

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease
MedGen: C1836727 OMIM: 609136 GeneReviews: Not available
not available
Waardenburg syndrome type 2E
MedGen: C2700405 OMIM: 611584 GeneReviews: Not available
not available
Waardenburg syndrome type 4C
MedGen: C2750452 OMIM: 613266 GeneReviews: Not available
not available

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

Pathways from BioSystems

  • 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...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC15649

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
 
DNA-binding transcription activator activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA-binding transcription factor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific ISM
Inferred from Sequence Model
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific NAS
Non-traceable Author Statement
more info
PubMed 
RNA polymerase II distal enhancer sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
RNA polymerase II proximal promoter sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
promoter-specific chromatin binding IEA
Inferred from Electronic Annotation
more info
 
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
 
cellular response to progesterone stimulus IEA
Inferred from Electronic Annotation
more info
 
central nervous system development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
central nervous system myelination ISS
Inferred from Sequence or Structural Similarity
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
in utero embryonic development IEA
Inferred from Electronic Annotation
more info
 
lacrimal gland development IEA
Inferred from Electronic Annotation
more info
 
melanocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
morphogenesis of a branching epithelium IEA
Inferred from Electronic Annotation
more info
 
morphogenesis of an epithelium IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of Schwann cell proliferation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of canonical Wnt signaling pathway IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
neural crest cell migration IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
oligodendrocyte development ISS
Inferred from Sequence or Structural Similarity
more info
 
oligodendrocyte differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
oligodendrocyte differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
peripheral nervous system development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of gliogenesis IEA
Inferred from Electronic Annotation
more info
 
positive regulation of myelination IEA
Inferred from Electronic Annotation
more info
 
positive regulation of neuroblast proliferation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of transcription, DNA-templated ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of transcription by RNA polymerase II TAS
Traceable Author Statement
more info
PubMed 
transcription elongation from RNA polymerase II promoter IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
chromatin IEA
Inferred from Electronic Annotation
more info
 
extrinsic component of mitochondrial outer membrane IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

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)

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

  1. NG_007948.1 RefSeqGene

    Range
    5001..17221
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_271

mRNA and Protein(s)

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

    See identical proteins and their annotated locations for NP_008872.1

    Status: REVIEWED

    Source sequence(s)
    BC007595
    Consensus CDS
    CCDS13964.1
    UniProtKB/Swiss-Prot
    P56693
    UniProtKB/TrEMBL
    A0A024R1N6
    Related
    ENSP00000380093.2, ENST00000396884.7
    Conserved Domains (2) summary
    cd01388
    Location:103173
    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:1293
    Sox_N; Sox developmental protein N terminal

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    37972312..37984532 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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