RUNX2 - RUNX family transcription factor 2 Gene
Also Known as CCD; AML3; CCD1; CLCD; OSF2; CBFA1; OSF-2; PEA2aA; PEBP2aA; CBF-alpha-1
Species: Homo sapiens
About RUNX2
This gene has 12 transcripts (splice variants), 147 orthologues, 2 paralogues and is associated with 5 phenotypes. Broad expression in bone marrow (RPKM 1.9), appendix (RPKM 1.3) and 23 other tissues.
Summary
This gene is a member of the RUNX family of transcription factors and encodes a nuclear protein with an Runt DNA-binding domain. 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. Two regions of potential trinucleotide repeat expansions are present in the N-terminal region of the encoded protein, and these and Other mutations in this gene have been associated with the bone development disorder cleidocranial dysplasia (CCD). Transcript variants that encode different protein isoforms result from the use of alternate promoters as well as alternate splicing. [provided by RefSeq, Jul 2016]
RUNX2 Products (4)
| mRNA | Protein | Name |
|---|---|---|
| NM_001015051.4 | NP_001015051.3 | runt-related transcription factor 2 isoform b |
| NM_001024630.4 | NP_001019801.3 | runt-related transcription factor 2 isoform a |
| NM_001278478.2 | NP_001265407.1 | runt-related transcription factor 2 isoform d |
| NM_001369405.1 | NP_001356334.1 | runt-related transcription factor 2 isoform e |
| Molecular Function GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
11965546 | GOA |
| enables sequence-specific double-stranded DNA binding |
IDA
IDA: Inferred from direct assay
|
28473536 | GOA |
| Biological Process GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| involved in SMAD protein signal transduction |
IGI
IGI: Inferred from genetic interaction
|
25012146 | GOA |
| involved in negative regulation of DNA-templated transcription |
IDA
IDA: Inferred from direct assay
|
11965546 | GOA |
| involved in osteoblast differentiation |
IEP
IEP: Inferred from expression pattern
|
20128911 | GOA |
| involved in osteoblast differentiation |
IGI
IGI: Inferred from genetic interaction
|
25012146 | GOA |
| involved in positive regulation of DNA-templated transcription |
IDA
IDA: Inferred from direct assay
|
11965546 | GOA |
| involved in positive regulation of osteoblast differentiation |
IMP
IMP: Inferred from mutant phenotype
|
28703881 | GOA |
| involved in positive regulation of transcription by RNA polymerase II |
IMP
IMP: Inferred from mutant phenotype
|
28505335 | GOA |
| Cellular Component GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
28505335 | GOA |
RUNX2 Protein Structure
Runt: Runt domain (99 - 233)
RunxI: Runx inhibition domain (427 - 521)
- 0
- 100
- 200
- 300
- 400
- 521 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
runt-related transcription factor 2 |
|
RUNX2 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | Verweise |
|---|---|---|---|---|---|---|---|
|
Intra
|
RUNX2 | Q13950 | UBTF | Homo sapiens | P17480 | 20160071 | |
|
Intra
|
RUNX2 | Q13950 | PIN1 | Homo sapiens | Q13526 | 24113655 | |
|
Intra
|
RUNX2 | Q13950 | PIN1 | Homo sapiens | Q13526 | 24113655 | |
|
Intra
|
RUNX2 | Q13950 | SMAD6 | Homo sapiens | O43541 | 16299379 |
RUNX2 Antibodies
| Art. -Nr. | Produktname | Anwendung | Reactivity |
|---|---|---|---|
| HY-P80316 | RUNX2 Antibody (YA085) | WB, IHC-P, ICC/IF, IP, FC, IF-Tissue, mIHC | Human, Mouse, Rat |
| HY-P80888 | RUNX1/2/3 Antibody (YA086) | WB, IHC-F, IHC-P, ICC/IF, IP | Human, Mouse, Rat |
| HY-P80888A | RUNX1/2/3 Antibody (YA086)(PBS only) | WB, IHC-F, IHC-P, ICC/IF, IP | Human, Mouse, Rat |
| HY-P86399 | RUNX2 Antibody (YA6091) | WB, IHC-P, ICC/IF, IP, ELISA | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Cleidocranial Dysplasia |
|
|
| Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
|
| Retinal Cone Dystrophy 3a |
|
|
| Bone Disease |
|
|
| Metaphyseal Dysplasia |
|
|
| Hyperphosphatemia |
|
|
| Teeth, Supernumerary |
|
|
| Parietal Foramina |
|
|
| Sclerosteosis |
|
|
| Brachydactyly |
|
|
| Osteoporosis |
|
|
| Parietal Foramina With Cleidocranial Dysplasia |
|
|
| Osteonecrosis |
|
|
| Myeloid Leukemia |
|
|
| Root Resorption |
|
|
| Leukemia |
|
|
| Hypophosphatasia |
|
|
| Osseous Heteroplasia, Progressive |
|
|
| Saethre-Chotzen Syndrome |
|
|
| Osteochondrodysplasia |
|
|
| Chondrosarcoma |
|
|
| Nephrotic Syndrome |
|
|
| Dysostosis |
|
|
| Bone Development Disease |
|
|
| Glucocorticoid-Induced Osteoporosis |
|
|
| Bone Remodeling Disease |
|
|
| Bone Resorption Disease |
|
|
| Osteoarthritis |
|
|
| Retinoblastoma |
|
|
| Periodontitis |
|
|
| Ischemic Bone Disease |
|
|
| Uremia |
|
|
| Chronic Kidney Disease |
|
|
| Craniosynostosis |
|
|
| Tooth Resorption |
|
|
| Aortic Valve Disease 1 |
|
|
| Dental Pulp Disease |
|
|
| Frontonasal Dysplasia 1 |
|
|
| Cartilage Disease |
|
|
| Metatropic Dysplasia |
|
|
| Osteogenic Sarcoma |
|
|
| Periapical Periodontitis |
|
|
| Arteriosclerosis |
|
|
| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
|
| Dental Pulp Necrosis |
|
|
| Clear Cell Chondrosarcoma |
|
|
| Enchondromatosis, Multiple, Ollier Type |
|
|
| Peripheral Osteosarcoma |
|
|
| Camurati-Engelmann Disease |
|
|
| Scoliosis |
|
|
| Osteopetrosis |
|
|
| Van Buchem Disease |
|
|
| Ankylosis |
|
|
| Apert Syndrome |
|
|
| Phosphorus Metabolism Disease |
|
|
| Chronic Apical Periodontitis |
|
|
| Cleft Palate, Isolated |
|
|
| Synostosis |
|
|
| Bone Giant Cell Tumor |
|
|
| Osteoporosis, Juvenile |
|
|
| Mammary Paget'S Disease |
|
|
| Fibrodysplasia Ossificans Progressiva |
|
|
| Crouzon Syndrome |
|
|
| Brittle Bone Disorder |
|
|
| Actinomycosis |
|
|
| Arterial Calcification Of Infancy |
|
|
| Exostosis |
|
|
| Bone Benign Neoplasm |
|
|
| Campomelic Dysplasia |
|
|
| Mineral Metabolism Disease |
|
|
| Aortic Valve Disease 2 |
|
|
| Brachydactyly, Type A2 |
|
|
| Heart Valve Disease |
|
|
| Hepatic Adenomas, Familial |
|
|
| Prostate Cancer |
|
|
| Bone Sarcoma |
|
|
| Craniometaphyseal Dysplasia, Autosomal Dominant |
|
|
| Bone Osteosarcoma |
|
|
| Bone Structure Disease |
|
|
| Yunis-Varon Syndrome |
|
|
| Teeth Hard Tissue Disease |
|
|
| Immunodeficiency 49 |
|
|
| Gastric Cancer |
|
|
| Tooth Agenesis |
|
|
| Orofacial Cleft |
|
|
| Breast Cancer |
|
|
| Robinow Syndrome |
|
|
| Diabetes Mellitus |
|
|
| Breast Adenocarcinoma |
|
|
| Connective Tissue Disease |
|
|
| Leukemia, Acute Myeloid |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | RUNX2 | MGD | MGI:99829 |
| Macaca mulatta | RUNX2 | VGNC | VGNC:76947 |
| Felis catus | RUNX2 | VGNC | VGNC:102510 |
| Rattus norvegicus | RUNX2 | RGD | RGD:2282 |
| Bos taurus | RUNX2 | VGNC | VGNC:34220 |
| Others | RUNX2 | NCBI |