GBX2 Gene Summary [Human]
Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in regulation of nervous system development and regulation of transcription by RNA polymerase II. Predicted to act upstream of or within several processes, including branching involved in blood vessel morphogenesis; nervous system development; and neural crest cell migration. Predicted to be part of chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | GBX2 |
| Official Name | gastrulation brain homeobox 2 [Source:HGNC Symbol;Acc:HGNC:4186] |
| Ensembl ID | ENSG00000168505 |
| Bio databases IDs | |
| Aliases | gastrulation brain homeobox 2 |
| Synonyms | D130058E05RIK, gastrulation brain homeobox 2, LOC105373944, MMoxA, Stra7 |
| 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 GBX2 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
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- transcription regulator
- nucleic acid binding
- double-stranded DNA binding
- transcription factor binding
- sequence-specific DNA binding
- homeodomain
- transcription factor activity
Pathways
Biological processes and signaling networks where the GBX2 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
- non-small cell lung cancer
- small cell lung cancer
- soft tissue sarcoma cancer
- double outlet right ventricle
- cleft palate
- overriding aorta
- glossopharyngeal-vagus nerve fusion
- hypoplasia
- clear cell sarcoma of the kidney
- renal cancer
role in cell
- cell death
- differentiation
- migration
- number
- development
- guidance
- transactivation in
- abnormal morphology
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 GBX2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cerebellum development
- midbrain-hindbrain boundary morphogenesis
- nervous system development
- axon guidance
- cerebellar granule cell precursor proliferation
- rhombomere 2 development
- positive regulation of transcription from RNA polymerase II promoter
- thalamus development
- forebrain neuron development
- regulation of transcription from RNA polymerase II promoter
- autonomic nervous system development
- regulation of nervous system development
- neural crest cell migration
- patterning of blood vessels
- inner ear morphogenesis
Cellular Component
Where in the cell the gene product is active
- nucleus
- chromatin
Molecular Function
What the gene product does at the molecular level
- sequence-specific DNA binding transcription factor activity
- RNA polymerase II core promoter sequence-specific DNA binding
- RNA polymerase II 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 RNA polymerase II transcription factor activity