SOX10

Also known as DOM, PCWH, WS2E, WS4, WS4C, SRY-box 10, SRY-box transcription factor 10, SOX-10

Transcription factor SOX-10 is a protein that in humans is encoded by the SOX10 gene.

Gene data

SOX10

Name: SRY-box transcription factor 10
Type: protein-coding
Position: 37,970,686–37,987,422 (−)
Aliases: DOM, PCWH, SOX-10, WS2E, WS4, WS4C
Ensembl: ENSG00000100146
RefSeq RNA: NM_006941.4
RefSeq protein: NP_008872.1

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].

Gene Ontology

Biological process

negative regulation of transcription by RNA polymerase II neural crest cell migration neural crest cell migration morphogenesis of an epithelium regulation of DNA-templated transcription regulation of transcription by RNA polymerase II transcription elongation by RNA polymerase II peripheral nervous system development

Molecular function

transcription cis-regulatory region binding transcription cis-regulatory region binding RNA polymerase II cis-regulatory region sequence-specific DNA binding RNA polymerase II cis-regulatory region sequence-specific DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific DNA-binding transcription factor activity, RNA polymerase II-specific DNA-binding transcription factor activity, RNA polymerase II-specific DNA-binding transcription activator activity

Cellular component

chromatin chromatin nucleus nucleus nucleus nucleus nucleoplasm nucleoplasm

Pathways

Developmental Biology Developmental Biology Cell-Cell communication Adherens junctions interactions Cell-cell junction organization Cell junction organization EGR2 and SOX10-mediated initiation of Schwann cell myelination EGR2 and SOX10-mediated initiation of Schwann cell myelination Nervous system development Nervous system development

via MyGene.info

Gene · Ensembl

SRY-box transcription factor 10

Symbol: SOX10
Biotype: Protein coding
Organism: Homo sapiens
Location: 22:37,970,686-37,987,422
Strand: Reverse (−)
Assembly: GRCh38

View on Ensembl →

via Ensembl · EMBL-EBI

Wikidata facts

Show 5 more facts

HomoloGene ID: 5055
exact match: identifiers.org/ncbigene/6663
genomic end: 38383429
genomic start: 38366693
cytogenetic location: 22q13.1

Sources (7)

via Wikidata · CC0

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Article

8 sections

Contents

Function
Mutations
Immunostain
Interactions
See also
References
Further reading
External links

Transcription factor SOX-10 is a protein that in humans is encoded by the SOX10 gene.

== Function == This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and determination of cell fate. The encoded protein acts 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.