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

Gene ID: 6663, updated on 12-May-2015
Official Symbol
SOX10provided by HGNC
Official Full Name
SRY (sex determining region Y)-box 10provided by HGNC
Primary source
HGNC:HGNC:11190
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]
Orthologs
See SOX10 in MapViewer
Location:
22q13.1
Exon count:
4
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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 polymerase (RNA) II (DNA directed) polypeptide F Neighboring gene uncharacterized LOC105373026 Neighboring gene microRNA 6820 Neighboring gene uncharacterized LOC105369188 Neighboring gene microRNA 4534

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease
MedGen: C1836727 OMIM: 609136 GeneReviews: Not available
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Waardenburg syndrome type 2E
MedGen: C2700405 OMIM: 611584 GeneReviews: Not available
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Waardenburg syndrome type 4C
MedGen: C2750452 OMIM: 613266 GeneReviews: Not available
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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
  • 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...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC15649

Gene Ontology Provided by GOA

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 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 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 
transcription from RNA polymerase II promoter IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
extrinsic component of 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
 
Preferred Names
transcription factor SOX-10
Names
transcription factor SOX-10
SRY-related HMG-box gene 10
dominant megacolon, mouse, human homolog of

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/TrEMBL
    A0A024R1N6
    UniProtKB/Swiss-Prot
    P56693
    Related
    ENSP00000380093, OTTHUMP00000195095, ENST00000396884, OTTHUMT00000313875
    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:1194
    Sox_N; Sox developmental protein N terminal

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p2 Primary Assembly

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

Alternate CHM1_1.1

Genomic

  1. NC_018933.2 Alternate CHM1_1.1

    Range
    38327060..38339280
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)