Gbx2 Gene Summary [Mouse]
Enables DNA-binding transcription activator activity, RNA polymerase II-specific; RNA polymerase II core promoter sequence-specific DNA binding activity; and RNA polymerase II-specific DNA-binding transcription factor binding activity. Acts upstream of or within several processes, including branching involved in blood vessel morphogenesis; nervous system development; and neural crest cell migration. Located in nucleus. Is expressed in several structures, including 1st branchial arch; central nervous system; ear; embryo ectoderm; and reproductive system. Orthologous to human GBX2 (gastrulation brain homeobox 2). [provided by Alliance of Genome Resources, Apr 2025]
Details
| Type | Protein Coding |
| Official Symbol | Gbx2 |
| Official Name | gastrulation brain homeobox 2 [Source:MGI Symbol;Acc:MGI:95668] |
| Ensembl ID | ENSMUSG00000034486 |
| Bio databases IDs | |
| Aliases | gastrulation brain homeobox 2 |
| Synonyms | D130058E05RIK, gastrulation brain homeobox 2, LOC105373944, MMoxA, Stra7 |
| Species | Mouse, Mus musculus |
| 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 mouse 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 mouse 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
phenotypes
- abnormal aortic arch morphology
- abnormal cardiovascular system morphology
- abnormal cerebellum development
- abnormal cerebellum morphology
- abnormal choroid plexus morphology
- abnormal cochlear ganglion morphology
- abnormal cochlear sensory epithelium morphology
- abnormal crista ampullaris morphology
- abnormal forebrain development
- abnormal fourth pharyngeal arch artery morphology
- abnormal hindbrain development
- abnormal hindbrain morphology
- abnormal inferior colliculus morphology
- abnormal inner ear morphology
- abnormal innervation
- abnormal locus ceruleus morphology
- abnormal membranous labyrinth morphology
- abnormal metencephalon morphology
- abnormal midbrain development
- abnormal midbrain morphology
- abnormal midbrain-hindbrain boundary development
- abnormal midbrain-hindbrain boundary morphology
- abnormal motor neuron morphology
- abnormal nervous system morphology
- abnormal neural crest cell migration
- abnormal neural crest cell morphology
- abnormal organ of Corti morphology
- abnormal pons morphology
- abnormal rhombomere 5 morphology
- abnormal skeleton morphology
- abnormal styloid process morphology
- abnormal trigeminal ganglion morphology
- abnormal vascular endothelial cell differentiation
- abnormal vestibular saccular macula morphology
- absent cerebellum
- absent cochlear ganglion
- absent common crus
- absent endolymphatic duct
- absent lateral semicircular canal
- absent posterior semicircular canal
- absent scala media
- absent superior semicircular canal
- absent supraoccipital bone
- absent trigeminal nerve
- absent vestibular saccule
- cleft palate
- cyanosis
- decreased cochlear coiling
- decreased neural crest cell number
- double outlet right ventricle
- fusion of glossopharyngeal and vagus nerve
- fusion of middle ear ossicles
- inner ear cysts
- interrupted aortic arch
- middle ear ossicle hypoplasia
- neonatal lethality complete penetrance
- no abnormal phenotype detected
- otic capsule hypoplasia
- overriding aortic valve
- perimembraneous ventricular septal defect
- preweaning lethality complete penetrance
- retroesophageal right subclavian artery
- right aortic arch
- small otic vesicle
- styloid process hypoplasia
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 mouse 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