GSC Gene Summary [Human]
This gene encodes a member of the bicoid subfamily of the paired (PRD) homeobox family of proteins. The encoded protein acts as a transcription factor and may be autoregulatory. A similar protein in mice plays a role in craniofacial and rib cage development during embryogenesis. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | GSC |
| Official Name | goosecoid homeobox [Source:HGNC Symbol;Acc:HGNC:4612] |
| Ensembl ID | ENSG00000133937 |
| Bio databases IDs | |
| Aliases | goosecoid homeobox |
| Synonyms | GOOSECOID, goosecoid homeobox, GSC1, LOC103692711, SAMS |
| 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 GSC 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
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional repressor activity
- Eh1 motif
- nucleic acid binding
- double-stranded DNA binding
- transcription factor binding
- protein binding
- sequence-specific DNA binding
- homeodomain
Pathways
Biological processes and signaling networks where the GSC 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
- short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities
- hypoplasia
- growth failure
- yolk sac neoplasm
- germ cell neoplasia
- cleft palate
role in cell
- expression in
- differentiation
- epithelial-mesenchymal transition
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 GSC gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- dorsal/ventral neural tube patterning
- neural crest cell fate specification
- signal transduction involved in regulation of gene expression
- middle ear morphogenesis
- muscle organ morphogenesis
- embryonic skeletal system morphogenesis
- gastrulation
- regulation of transcription from RNA polymerase II promoter
- negative regulation of transcription from RNA polymerase II promoter
- forebrain development
- Wnt receptor signaling pathway
- negative regulation of Wnt receptor signaling pathway
Cellular Component
Where in the cell the gene product is active
- transcription factor complex
- nucleus
- chromatin
Molecular Function
What the gene product does at the molecular level
- 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 negative regulation of transcription
- sequence-specific DNA binding RNA polymerase II transcription factor activity