Ltbp3 Gene Summary [Mouse]
Predicted to enable transforming growth factor beta binding activity. Acts upstream of or within several processes, including negative regulation of chondrocyte differentiation; positive regulation of bone resorption; and transforming growth factor beta receptor signaling pathway. Located in extracellular region. Is expressed in several structures, including cardiovascular system; central nervous system; jaw; limb; and respiratory system. Used to study brachyolmia-amelogenesis imperfecta syndrome. Human ortholog(s) of this gene implicated in brachyolmia-amelogenesis imperfecta syndrome and geleophysic dysplasia 3. Orthologous to human LTBP3 (latent transforming growth factor beta binding protein 3). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Retained Intron |
| Official Symbol | Ltbp3 |
| Official Name | latent transforming growth factor beta binding protein 3 [Source:MGI Symbol;Acc:MGI:1101355] |
| Ensembl ID | ENSMUSG00000024940 |
| Bio databases IDs | |
| Aliases | latent transforming growth factor beta binding protein 3 |
| Synonyms | DASS, GPHYSD3, Latent transforming growth factor beta binding protein 3, Latent transforming growth factor β binding protein 3, LOC100128383, Ltbp2, mFLJ00070, pp6425, STHAG6 |
| 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 Ltbp3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Complement Clr-like EGF-like
- TB domain
- EGF domain
- protein binding
- TGFbeta binding
- EGF_CA
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- major depression
- dental anomalies and short stature
- non-insulin-dependent diabetes mellitus
- growth failure
- open-angle glaucoma
- osteoarthritis
- juvenile dermatomyositis
- glaucoma
- osteosclerosis
- kyphosis
phenotypes
- abnormal basicranium morphology
- abnormal basioccipital bone morphology
- abnormal basisphenoid bone morphology
- abnormal bone remodeling
- abnormal cervical vertebrae morphology
- abnormal craniofacial bone morphology
- abnormal craniofacial morphology
- abnormal cranium morphology
- abnormal enamel morphology
- abnormal enamel organ morphology
- abnormal eye morphology
- abnormal foramen magnum morphology
- abnormal frontal bone morphology
- abnormal joint morphology
- abnormal long bone epiphyseal plate proliferative zone
- abnormal long bone metaphysis morphology
- abnormal neurocranium morphology
- abnormal nose morphology
- abnormal synchondrosis
- abnormal thoracic cage shape
- abnormal thoracic vertebrae morphology
- abnormal trabecular bone morphology
- decreased body size
- decreased body weight
- decreased length of long bones
- domed cranium
- ectopic cranial bone
- excessive tearing
- hindlimb paralysis
- increased trabecular bone mass
- increased width of hypertrophic chondrocyte zone
- iris coloboma
- kyphosis
- malocclusion
- misaligned incisors
- occipital bossing
- ocular hypertelorism
- osteoarthritis
- osteosclerosis
- postnatal growth retardation
- premature bone ossification
- preweaning lethality incomplete penetrance
- prognathia
- reduced enamel thickness
- round head
- round orbits
- short basicranium
- short face
- short maxilla
- short snout
role in cell
- growth
- proliferation
- differentiation
- angiogenesis by
- intravasation by
- processing in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- extracellular matrix
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Ltbp3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of bone mineralization
- lung saccule development
- bone remodeling
- bone mineralization
- positive regulation of bone resorption
- positive regulation of mesenchymal stem cell differentiation
- bone morphogenesis
- chondrocyte differentiation
- transforming growth factor beta receptor signaling pathway
- negative regulation of chondrocyte differentiation
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome
- extracellular region
Molecular Function
What the gene product does at the molecular level
- transforming growth factor beta binding
- protein binding
- calcium ion binding