Lmx1b Gene Summary [Mouse]
Enables DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Involved in several processes, including memory; olfactory behavior; and positive regulation of transcription by RNA polymerase II. Acts upstream of or within several processes, including collagen fibril organization; nervous system development; and trabecular meshwork development. Located in nucleus. Is expressed in several structures, including central nervous system; embryo ectoderm; embryo mesenchyme; limb; and limb bud. Used to study Parkinson's disease and nail-patella syndrome. Human ortholog(s) of this gene implicated in nail-patella syndrome. Orthologous to human LMX1B (LIM homeobox transcription factor 1 beta). [provided by Alliance of Genome Resources, Apr 2025]
Details
| Type | Protein Coding |
| Official Symbol | Lmx1b |
| Official Name | LIM homeobox transcription factor 1 beta [Source:MGI Symbol;Acc:MGI:1100513] |
| Ensembl ID | ENSMUSG00000038765 |
| Bio databases IDs | |
| Aliases | LIM homeobox transcription factor 1 beta |
| Synonyms | FSGS10, Icst, LIM homeobox transcription factor 1 beta, LIM homeobox transcription factor 1 β, LMX1.1, LMX1.2, NPS1 |
| 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 Lmx1b 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
- nucleic acid binding
- LIM is a small protein-protein interaction domain, containing two zinc fingers
- double-stranded DNA binding
- protein binding
- sequence-specific DNA binding
- homeodomain
- transcription factor activity
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- non-insulin-dependent diabetes mellitus
- pain
- breast carcinoma
- chronic obstructive pulmonary disease
- nail-patella syndrome
- multiple system atrophy
- hereditary disorder
- microphthalmia
- neurodevelopmental disorder
- open-angle glaucoma
phenotypes
- abnormal Descemet membrane
- abnormal anterior eye segment morphology
- abnormal brain development
- abnormal cartilage development
- abnormal cerebellum morphology
- abnormal cerebral cortex morphology
- abnormal ciliary body morphology
- abnormal clavicle morphology
- abnormal cornea morphology
- abnormal corneal endothelium morphology
- abnormal corneal stroma morphology
- abnormal cranial suture morphology
- abnormal developmental patterning
- abnormal dopaminergic neuron morphology
- abnormal eye anterior chamber morphology
- abnormal eye morphology
- abnormal fontanelle morphology
- abnormal glomerular capillary endothelium morphology
- abnormal glomerular capillary morphology
- abnormal interparietal bone morphology
- abnormal iridocorneal angle
- abnormal iris morphology
- abnormal iris stroma morphology
- abnormal kidney morphology
- abnormal lens epithelium morphology
- abnormal limb development
- abnormal limb position
- abnormal midbrain-hindbrain boundary development
- abnormal neuron morphology
- abnormal optic nerve morphology
- abnormal pectoral girdle bone morphology
- abnormal podocyte foot process morphology
- abnormal podocyte morphology
- abnormal pretectal region morphology
- abnormal renal glomerulus basement membrane morphology
- abnormal renal glomerulus morphology
- abnormal sensory neuron innervation pattern
- abnormal suckling behavior
- abnormal superior colliculus morphology
- abnormal tectum morphology
- absence of all nails
- absent cerebellum
- absent glomerular endothelium fenestra
- absent ilium
- absent midbrain-hindbrain boundary
- absent patella
- absent podocyte foot process
- absent podocyte slit diaphragm
- absent supraoccipital bone
- absent ulna
- anterior iris synechia
- buphthalmos
- ciliary body hypoplasia
- cornea ulcer
- corneal opacity
- corneal scarring
- corneal vascularization
- decreased motor neuron number
- decreased neuronal precursor cell number
- decreased rhombomere 1 size
- decreased superior colliculus size
- increased neuron number
- increased renal glomerulus basement membrane thickness
- iris stroma hypoplasia
- irregularly shaped pupil
- macrophthalmia
- microphthalmia
- neonatal lethality complete penetrance
- no abnormal phenotype detected
- ocular hypertension
- perinatal lethality complete penetrance
- perinatal lethality incomplete penetrance
- small cerebellum
- small kidney
- small scapula
- small tectum
role in cell
- expression in
- cell death
- production in
- apoptosis
- phosphorylation in
- survival
- morphology
- migration
- proliferation
- formation
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
- nuclear fraction
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Lmx1b gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- dopaminergic neuron differentiation
- neuron differentiation
- regulation of transcription, DNA-dependent
- positive regulation of transcription from RNA polymerase II promoter
- regulation of transcription from RNA polymerase II promoter
- dorsal/ventral pattern formation
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
- protein binding
- metal ion binding
- RNA polymerase II regulatory region sequence-specific DNA binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity