SOX3 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 regulator after forming a protein complex with other proteins. Mutations in this gene have been associated with X-linked cognitive disability with growth hormone deficiency. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | SOX3 |
| Official Name | SRY-box transcription factor 3 [Source:HGNC Symbol;Acc:HGNC:11199] |
| Ensembl ID | ENSG00000134595 |
| Bio databases IDs | |
| Aliases | SRY-box transcription factor 3 |
| Synonyms | GHDX, LOC679158, MRGH, PHP, PHPX, SOXB, SRY-box transcription factor 3, SRY (sex determining region Y)-box 3 |
| 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 SOX3 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 factor activity, sequence-specific DNA binding
- transcription regulator
- double-stranded DNA binding
- nucleic acid binding
- high mobility group (HMG)-box domain superfamily
- HMG (high mobility group) box
- SOX transcription factor
- HMG-box domain
- high mobility group
- protein binding
- sequence-specific DNA binding
- DNA binding
Pathways
Biological processes and signaling networks where the SOX3 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
- nonsyndromic bilateral cleft lip and palate
- nonsyndromic unilateral cleft lip and palate
- panhypopituitarism - X-linked
- nonsyndromic cleft lip and palate
- oligozoospermia
- X-linked mental retardation with isolated growth hormone deficiency
- glioma
- glioma formation
role in cell
- expression in
- apoptosis
- proliferation
- migration
- number
- abnormal morphology
- differentiation
- invasion by
- transformation
- depletion
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
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SOX3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of transcription from RNA polymerase II promoter
- central nervous system development
- neuron differentiation
- negative regulation of neuron differentiation
- hypothalamus development
- sex determination
- brain development
- positive regulation of transcription from RNA polymerase II promoter
- face development
- sensory organ development
- pituitary gland development
Cellular Component
Where in the cell the gene product is active
- nucleus
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- DNA binding
- protein binding
- RNA polymerase II core promoter proximal 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 RNA polymerase II transcription factor activity