Gene
runx2a
- ID
- ZDB-GENE-040629-3
- Name
- RUNX family transcription factor 2a
- Symbol
- runx2a Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 17 Mapping Details/Browsers
- Description
- Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in several processes, including chondrocyte differentiation; ossification; and regulation of transcription by RNA polymerase II. Predicted to act upstream of or within regulation of DNA-templated transcription. Predicted to be located in cytosol and nucleoplasm. Is expressed in several structures, including cranium; fin; midbrain hindbrain boundary; osteoblast; and osteoprogenitor cell. Human ortholog(s) of this gene implicated in cleidocranial dysplasia; lung non-small cell carcinoma; metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome; and osteonecrosis. Orthologous to human RUNX2 (RUNX family transcription factor 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 61 figures from 48 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- eu739 (1 image)
Wild Type Expression Summary
Phenotype Summary
Mutations
| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-runx2a | Zebrafish Nomenclature Committee | |
| CRISPR2-runx2a | Nie et al., 2022 | |
| CRISPR3-runx2a | Nie et al., 2022 | |
| MO1-runx2a | N/A | (3) |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| cleidocranial dysplasia | Alliance | Cleidocranial dysplasia | 119600 |
| cleidocranial dysplasia | Alliance | Cleidocranial dysplasia, forme fruste, dental anomalies only | 119600 |
| cleidocranial dysplasia | Alliance | Cleidocranial dysplasia, forme fruste, with brachydactyly | 119600 |
| metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome | Alliance | Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly | 156510 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR013524 | Runt domain |
| Domain | IPR013711 | Runx, C-terminal domain |
| Family | IPR000040 | Acute myeloid leukemia 1 protein (AML1)/Runt |
| Family | IPR016554 | Runt-related transcription factor RUNX |
| Homologous_superfamily | IPR008967 | p53-like transcription factor, DNA-binding domain superfamily |
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Domain Details Per Protein
| Protein | Additional Resources | Length | Acute myeloid leukemia 1 protein (AML1)/Runt | p53-like transcription factor, DNA-binding domain superfamily | p53/RUNT-type transcription factor, DNA-binding domain superfamily | Runt domain | Runt-related transcription factor RUNX | Runx, central domain superfamily | Runx, C-terminal domain |
|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:Q6U1J2 | InterPro | 467 | |||||||
| UniProtKB:A0AB32T797 | InterPro | 467 | |||||||
| UniProtKB:A0AB32T7G4 | InterPro | 408 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
runx2a-201
(1)
|
Ensembl | 1,650 nt | ||
| mRNA |
runx2a-202
(1)
|
Ensembl | 1,498 nt | ||
| mRNA |
runx2a-203
(1)
|
Ensembl | 786 nt |
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Interactions and Pathways
No data available
Plasmids
No data available
| Construct | Regulatory Region | Coding Sequence | Species | Tg Lines | Citations |
|---|---|---|---|---|---|
| Tg(runx2a:GAL4-VP16-2A-mCherry) |
|
| 1 | Uemura et al., 2016 |
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| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-34C18 | ZFIN Curated Data | |
| Contained in | BAC | CH211-42B22 | ZFIN Curated Data | |
| Contained in | BAC | CH211-253F14 | ZFIN Curated Data | |
| Encodes | EST | eu739 | Thisse et al., 2005 | |
| Encodes | cDNA | MGC:195229 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:195237 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_212858 (1) | 1650 nt | ||
| Genomic | GenBank:BX510331 (1) | 150762 nt | ||
| Polypeptide | UniProtKB:A0AB32T797 (1) | 467 aa |
- Debaenst, S., Jarayseh, T., De Saffel, H., Bek, J.W., Boone, M., Josipovic, I., Kibleur, P., Kwon, R.Y., Coucke, P.J., Willaert, A. (2025) Crispant analysis in zebrafish as a tool for rapid functional screening of disease-causing genes for bone fragility. eLIFE. 13:
- Gjorcheska, S., Paudel, S., McLeod, S., Paulding, D., Snape, L., Sosa, K.C., Duan, C., Kelsh, R., Barske, L. (2025) Sox10 is required for systemic initiation of bone mineralization. Development (Cambridge, England). 152(2):
- Breuer, M., Rummler, M., Singh, J., Maher, S., Zaouter, C., Jamadagni, P., Pilon, N., Willie, B.M., Patten, S.A. (2024) CHD7 regulates craniofacial cartilage development via controlling HTR2B expression. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research. 39(4):498-512
- Jiang, R.X., Hu, N., Deng, Y.W., Hu, L.W., Gu, H., Luo, N., Wen, J., Jiang, X.Q. (2024) Potential therapeutic role of spermine via Rac1 in osteoporosis: Insights from zebrafish and mice. Zoological research. 45:367380367-380
- Jiang, Z., Deng, L., Xiang, G., Xu, X., Wang, Y. (2024) A Mechanistic Study of the Osteogenic Effect of Arecoline in an Osteoporosis Model: Inhibition of Iron Overload-Induced Osteogenesis by Promoting Heme Oxygenase-1 Expression. Antioxidants (Basel, Switzerland). 13(4):
- Kabir, A., B, M., A, N., Selvaraj, V., Sudhakar, S. (2024) Protein Nano Coop Complexes Promote Fracture Healing and Bone Regeneration in a Zebrafish Osteoporosis Model. Biomacromolecules. 25(11):7237-7248
- Singh, S., Danda, S., Sharma, N., Shah, H., Madhuri, V., Mir, T.A., Padala, N.Z., Medishetti, R., Ekbote, A., Bhavani, G.S., Sevilimedu, A., Girisha, K.M. (2024) Biallelic variants in CCN2 underlie an autosomal recessive kyphomelic dysplasia. European journal of human genetics : EJHG. 33(1):30-37
- Yu, T., Chen, M., Wen, J., Liu, J., Li, K., Jin, L., Yue, J., Yang, Z., Xi, J. (2024) The effects of all-trans retinoic acid on prednisolone-induced osteoporosis in zebrafish larvae. Bone. 189:117261
- Arachchilage Hasitha Maduranga Karunarathne, W., Hyun Choi, Y., Lee, M.H., Kang, C.H., Kim, G.Y. (2023) Gamma-aminobutyric acid (GABA)-mediated bone formation and its implications for anti-osteoporosis strategies: Exploring the relation between GABA and GABA receptors. Biochemical pharmacology. 218:115888115888
- Carletti, A., Rosa, J.T., Pes, K., Borges, I., Santos, T., Barreira, L., Varela, J., Pereira, H., Cancela, M.L., Gavaia, P.J., Laizé, V. (2023) The osteogenic and mineralogenic potential of the microalgae Skeletonema costatum and Tetraselmis striata CTP4 in fish models. Cellular and molecular life sciences : CMLS. 80:310310
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