Runx2 Gene Summary [Mouse]
This gene encodes a member of the runt domain-containing family of transcription factors. This protein is essential for osteoblastic differentiation and skeletal morphogenesis and acts as a scaffold for nucleic acids and regulatory factors involved in skeletal gene expression. The protein can bind DNA both as a monomer or, with more affinity, as a subunit of a heterodimeric complex. Transcript variants that encode different protein isoforms result from the use of alternate promoters as well as alternate splicing. [provided by RefSeq, Sep 2015]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | Runx2 |
| Official Name | runt related transcription factor 2 [Source:MGI Symbol;Acc:MGI:99829] |
| Ensembl ID | ENSMUSG00000039153 |
| Bio databases IDs | |
| Aliases | runt related transcription factor 2 |
| Synonyms | AML3, Cbf, CBFA1, CBF-alpha-1, CBF-α-1, CCD, CCD1, CLCD, LS3, OSF-2, PEA2aA, PEA2-alpha A, PEA2-α A, PEBP2A, PEBP2aA, Pebp2 α A, runt related transcription factor 2, RUNX2C, RUNX2 MRIPV, RUNX family transcription factor 2 |
| 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 Runx2 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
- activation domain
- transcription regulator
- DNA binding domain
- nucleic acid binding
- Pst domain
- VWRPY domain
- transcription factor binding
- inhibitory domain
- histone deacetylase binding
- chromatin binding
- protein domain specific binding
- runt domain
- protein binding
- sequence-specific DNA binding
- proline tyrosine motif
- DNA binding
- phosphorylation site
- glutamine-alanine rich domain
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- Runx inhibition domain
- double-stranded DNA binding
- transcription factor activity
- nuclear matrix targeting site
Pathways
Biological processes and signaling networks where the Runx2 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
- metastasis
- neoplasia
- osteoarthritis
- primary myelofibrosis
- cleidocranial dysplasia
- cancer
- hypoplasia
- aortic valve calcification
- anaplastic thyroid cancer
- colorectal cancer
phenotypes
- abnormal bone marrow cavity morphology
- abnormal bone mineralization
- abnormal bone ossification
- abnormal cartilage development
- abnormal cartilage morphology
- abnormal cervical loop morphology
- abnormal chondrocyte morphology
- abnormal clavicle morphology
- abnormal cranial suture morphology
- abnormal craniofacial bone morphology
- abnormal cranium morphology
- abnormal definitive hematopoiesis
- abnormal dental lamina morphology
- abnormal dental papilla morphology
- abnormal dentin morphology
- abnormal dermal layer morphology
- abnormal enamel knot morphology
- abnormal enamel morphology
- abnormal epidermis suprabasal layer morphology
- abnormal femur morphology
- abnormal fontanelle morphology
- abnormal humerus morphology
- abnormal hyoid bone morphology
- abnormal incisor morphology
- abnormal interparietal bone morphology
- abnormal limb development
- abnormal long bone epiphyseal ossification zone morphology
- abnormal long bone epiphyseal plate morphology
- abnormal long bone epiphyseal plate proliferative zone
- abnormal long bone epiphysis morphology
- abnormal long bone hypertrophic chondrocyte zone
- abnormal lung volume
- abnormal molar morphology
- abnormal nasal bone morphology
- abnormal neurocranium morphology
- abnormal nose morphology
- abnormal osteoblast differentiation
- abnormal osteoclast differentiation
- abnormal parietal bone morphology
- abnormal phalanx morphology
- abnormal radius morphology
- abnormal rib morphology
- abnormal skeleton development
- abnormal skeleton morphology
- abnormal skin morphology
- abnormal splenic cell ratio
- abnormal supraoccipital bone morphology
- abnormal thyroid follicle morphology
- abnormal thyroid gland morphology
- abnormal tibia morphology
- abnormal tooth development
- abnormal trabecular bone morphology
- abnormal ulna morphology
- abnormal vascular development
- abnormal xiphoid process morphology
- absent bone marrow cell
- absent clavicle
- absent deltoid tuberosity
- absent occipital bone
- absent zygomatic arch
- anemia
- arrest of tooth development
- clavicle hypoplasia
- cleft secondary palate
- cyanosis
- decreased B cell number
- decreased activity of thyroid gland
- decreased angiogenesis
- decreased birth body size
- decreased birth weight
- decreased body size
- decreased body weight
- decreased bone mass
- decreased bone mineral density of femur
- decreased bone trabecula number
- decreased bone volume
- decreased circulating thyroxine level
- decreased compact bone thickness
- decreased diameter of tibia
- decreased length of long bones
- decreased osteoblast cell number
- decreased thymocyte number
- decreased thyroxine level
- decreased trabecular bone thickness
- decreased triiodothyronine level
- decreased volumetric bone mineral density
- delayed bone ossification
- delayed endochondral bone ossification
- delayed fontanelle closure
- delayed intramembranous bone ossification
- delayed sagittal suture closure
- disproportionate dwarf
- enlarged spleen
- enlarged thymus
- extramedullary hematopoiesis
- eyelids open at birth
- growth retardation of incisors
- growth retardation of molars
- hyoid bone hypoplasia
- impaired adaptive thermogenesis
- impaired osteoblast differentiation
- increased bone trabecular spacing
- increased granulocyte number
- increased nucleated erythrocyte cell number
- increased osteoblast proliferation
- increased thyroid-stimulating hormone level
- increased width of hypertrophic chondrocyte zone
- interparietal bone hypoplasia
- ischium hypoplasia
- large anterior fontanelle
- lethality throughout fetal growth and development complete penetrance
- liver hypoplasia
- nasal bone hypoplasia
- neonatal lethality complete penetrance
- palatal shelves fail to meet at midline
- parietal bone hypoplasia
- postnatal lethality incomplete penetrance
- premature death
- pubis hypoplasia
- pulmonary vascular congestion
- respiratory failure
- short limbs
- slow postnatal weight gain
- small basisphenoid bone
- small clavicle
- small incisors
- small liver
- small molars
- thin epidermis
- underdeveloped hair follicles
- wide cranial sutures
role in cell
- growth
- proliferation
- expression in
- quantity
- activation in
- accumulation in
- invasiveness
- migration
- dephosphorylation in
- invasion
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 fraction
- Cytoplasm
- cytosol
- nuclear foci
- nucleoplasm
- nuclear matrix
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Runx2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of fibroblast growth factor receptor signaling pathway
- ligamentous ossification
- hemopoiesis
- chondrocyte differentiation
- chondrocyte development
- odontogenesis of dentin-containing tooth
- positive regulation of transcription from RNA polymerase II promoter
- positive regulation of osteoblast differentiation
- epithelial cell proliferation
- negative regulation of transcription, DNA-dependent
- stem cell differentiation
- regulation of cell differentiation
- positive regulation of transcription, DNA-dependent
- ossification
- BMP signaling pathway
- stem cell proliferation
- osteoblast differentiation
- positive regulation of epithelial cell proliferation
- embryonic forelimb morphogenesis
- bone mineralization
- neuron differentiation
- SMAD protein signal transduction
- osteoblast fate commitment
- smoothened signaling pathway
- embryonic cranial skeleton morphogenesis
- cell maturation
- regulation of odontogenesis of dentin-containing tooth
- osteoblast development
- negative regulation of smoothened signaling pathway
- regulation of transcription from RNA polymerase II promoter
- T cell differentiation
- positive regulation of gene expression
- positive regulation of stem cell proliferation
- gene expression
- endochondral ossification
- positive regulation of chondrocyte differentiation
- regulation of ossification
Cellular Component
Where in the cell the gene product is active
- nucleus
- transcription factor complex
- cytoplasm
- cytosol
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- ATP binding
- chromatin DNA binding
- sequence-specific DNA binding transcription factor activity
- protein domain specific binding
- protein binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- bHLH transcription factor binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity