Arx Gene Summary [Mouse]
This gene encodes a transcription factor that plays an important role in the development of forebrain. Male mice lacking this gene have smaller brains, olfactory bulbs and testes, and die within half a day after birth. Mice lacking this gene specifically in ganglionic eminence-derived neurons, including cortical interneurons, develop seizures. Mutations in this gene have been demonstrated to cause mouse phenotypes resembling human X-linked lissencephaly and cognitive disability with epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
Details
| Type | Retained Intron |
| Official Symbol | Arx |
| Official Name | aristaless related homeobox [Source:MGI Symbol;Acc:MGI:1097716] |
| Ensembl ID | ENSMUSG00000035277 |
| Bio databases IDs | |
| Aliases | aristaless related homeobox |
| Synonyms | aristaless related homeobox, Arx1, CT121, EIEE1, ISSX, MRX29, MRX32, MRX33, MRX36, MRX38, MRX43, MRX54, MRX76, MRX87, MRXS1, PRTS, RGD1562672 |
| 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 Arx often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- aristaless domain
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- OAR motif
- transcription regulator
- Eh1 motif
- nucleic acid binding
- nuclear localization sequence
- octapeptide domain
- chromatin binding
- protein binding
- sequence-specific DNA binding
- polyalanine repeat
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional repressor activity
- double-stranded DNA binding
- homeodomain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- weight gain
- obesity
- X-linked myoclonic epilepsy with generalized spasticity and intellectual disability
- X-linked lissencephaly with ambiguous genitalia
- X-linked mental retardation
- seizures
- nystagmus
- X-linked subgroup of west syndrome
- hereditary disorder
- learning disability
phenotypes
- abnormal associative learning
- abnormal brain internal capsule morphology
- abnormal brain interneuron morphology
- abnormal brain wave pattern
- abnormal central medial nucleus morphology
- abnormal cerebral cortex morphology
- abnormal cholinergic neuron morphology
- abnormal corpus callosum morphology
- abnormal cortical marginal zone morphology
- abnormal cortical plate morphology
- abnormal cortical ventricular zone morphology
- abnormal dentate gyrus morphology
- abnormal fetal Leydig cell differentiation
- abnormal forebrain development
- abnormal gait
- abnormal glutaminergic neuron morphology
- abnormal hippocampus CA3 region morphology
- abnormal hippocampus CA4 region morphology
- abnormal hippocampus development
- abnormal motor capabilities/coordination/movement
- abnormal neocortex morphology
- abnormal nervous system electrophysiology
- abnormal nervous system tract morphology
- abnormal neuronal migration
- abnormal olfactory bulb morphology
- abnormal pancreatic delta cell morphology
- abnormal postnatal subventricular zone morphology
- abnormal response to social novelty
- abnormal social investigation
- abnormal somatosensory cortex morphology
- abnormal spatial learning
- abnormal spike wave discharge
- abnormal striatum morphology
- abnormal telencephalon development
- abnormal telencephalon morphology
- abnormal thalamus morphology
- abnormal ventral striatum morphology
- abnormal voluntary movement
- absent hippocampal commissure
- absent hippocampal fimbria
- absent pancreatic alpha cells
- clonic seizures
- decreased aggression towards mice
- decreased anxiety-related response
- decreased body weight
- decreased brain size
- decreased exploration in new environment
- decreased fear-related response
- decreased neuron number
- decreased thermal nociceptive threshold
- dehydration
- enhanced coordination
- enlarged seminiferous tubules
- enlarged third ventricle
- hyperactivity
- hypoactivity
- hypoglycemia
- impaired balance
- impaired contextual conditioning behavior
- impaired coordination
- impaired cued conditioning behavior
- impaired passive avoidance behavior
- impaired spatial learning
- increased anxiety-related response
- increased exploration in new environment
- increased pancreatic beta cell number
- increased pancreatic delta cell number
- increased sensitivity to induced morbidity/mortality
- increased susceptibility to pharmacologically induced seizures
- increased vertical activity
- loss of GABAergic neurons
- muscle spasm
- myoclonus
- neonatal lethality complete penetrance
- no abnormal phenotype detected
- postnatal growth retardation
- postnatal lethality complete penetrance
- postnatal lethality incomplete penetrance
- premature death
- seizures
- seminal vesicle hypoplasia
- small olfactory bulb
- small testis
- social withdrawal
- thin cortical plate
- tonic seizures
- tonic-clonic seizures
- weakness
role in cell
- proliferation
- cell death
- morphology
- quantity
- differentiation
- migration
- cell cycle progression
- development
- loss
- length
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
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Arx gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- organ growth
- cell proliferation in forebrain
- globus pallidus development
- positive regulation of organ growth
- cerebral cortex GABAergic interneuron migration
- embryonic olfactory bulb interneuron precursor migration
- axon guidance
- cerebral cortex tangential migration
- positive regulation of transcription from RNA polymerase II promoter
- regulation of transcription from RNA polymerase II promoter
- negative regulation of transcription from RNA polymerase II promoter
- lipid digestion
- positive regulation of gene expression
- epithelial cell fate commitment
- regulation of epithelial cell proliferation
Cellular Component
Where in the cell the gene product is active
- nucleus
- chromatin
Molecular Function
What the gene product does at the molecular level
- protein binding
- RNA polymerase II core promoter proximal region 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
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription
- chromatin binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity