SOX10 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | SOX10 |
| Official Name | SRY-box transcription factor 10 [Source:HGNC Symbol;Acc:HGNC:11190] |
| Ensembl ID | ENSG00000100146 |
| Bio databases IDs | |
| Aliases | SRY-box transcription factor 10, dominant megacolon, mouse, human homolog of |
| Synonyms | DOM, gt, PCWH, Sox21, SRY-box transcription factor 10, SRY (sex determining region Y)-box 10, WS2E, WS4, WS4C |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human SOX10 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- transcription regulator
- dimerization domain
- nuclear export signal
- nucleic acid binding
- high mobility group (HMG)-box domain superfamily
- transcription activation domain
- Sox developmental protein N terminal
- transcription factor binding
- chromatin binding
- protein binding
- sequence-specific DNA binding
- identical protein binding
- DNA binding
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- HMG-like domain
- K2 domain
- double-stranded DNA binding
- HMG (high mobility group) box
- HMG-box domain
- high mobility group
- transcription factor activity
Pathways
Biological processes and signaling networks where the SOX10 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- schizophrenia
- metastasis
- colorectal cancer
- Waardenburg syndrome type 4C
- Waardenburg-Shah syndrome neurologic variant
- melanoma cancer
- neurodegeneration
- Waardenburg syndrome type IIE
- schwannoma
role in cell
- expression in
- apoptosis
- proliferation
- activation in
- cell death
- invasion by
- migration
- loss
- number
- maturation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nuclear fraction
- Cytoplasm
- Mitochondria
- mitochondrial outer membrane
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SOX10 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- oligodendrocyte development
- anatomical structure morphogenesis
- positive regulation of transcription from RNA polymerase II promoter
- morphogenesis of a branching epithelium
- transcription elongation from RNA polymerase II promoter
- negative regulation of transcription from RNA polymerase II promoter
- central nervous system myelination
- enteric nervous system development
- neuroblast proliferation
- cellular response to progesterone stimulus
- lacrimal gland development
- positive regulation of transcription, DNA-dependent
- in utero embryonic development
- positive regulation of gliogenesis
- oligodendrocyte differentiation
- positive regulation of neuroblast proliferation
- peripheral nervous system development
- cell maturation
- digestive tract morphogenesis
- developmental growth
- regulation of transcription from RNA polymerase II promoter
- negative regulation of canonical Wnt receptor signaling pathway
- melanocyte differentiation
- negative regulation of Schwann cell proliferation
- neural crest cell migration
- morphogenesis of an epithelium
- negative regulation of apoptotic process
- positive regulation of gene expression
- cellular response to xenobiotic stimulus
- positive regulation of myelination
Cellular Component
Where in the cell the gene product is active
- nucleus
- mitochondrial outer membrane
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- DNA binding
- identical protein binding
- sequence-specific DNA binding transcription factor activity
- protein binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- transcription regulatory region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- sequence-specific DNA binding bacterial-type RNA polymerase transcription factor activity involved in positive regulation of transcription
- sequence-specific DNA binding RNA polymerase II transcription factor activity