Gene
runx2b
- ID
- ZDB-GENE-040629-4
- Name
- RUNX family transcription factor 2b
- Symbol
- runx2b Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 20 Mapping Details/Browsers
- Description
- Enables DNA-binding transcription factor activity and nuclear vitamin D receptor binding activity. Acts upstream of or within chondrocyte differentiation; dorsal/ventral pattern formation; and positive regulation of DNA-templated transcription. Predicted to be located in nucleus. Is expressed in several structures, including EVL; fin; osteoblast; pharyngeal arch; and skeletal system. Human ortholog(s) of this gene implicated in cleidocranial dysplasia; lung non-small cell carcinoma; and metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome. Orthologous to human RUNX2 (RUNX family transcription factor 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 94 figures from 71 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| hza110 | Allele with one deletion | Exon 3 | Unknown | CRISPR | |
| hza124 | Allele with one MNV | Exon 6 | Unknown | CRISPR | |
| sa14504 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa25144 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa32315 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| zf4028 | Allele with one deletion | Exon 3 | Unknown | CRISPR | |
| zf4029 | Allele with one delins | Exon 3 | Unknown | CRISPR |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-runx2b | (2) | |
| CRISPR2-runx2b | Zebrafish Nomenclature Committee | |
| MO1-runx2b | N/A | (2) |
| MO2-runx2b | N/A | (2) |
| MO3-runx2b | N/A | (4) |
| MO4-runx2b | N/A | (2) |
| MO5-runx2b | N/A | (2) |
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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 | 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:A0A8M1PMM2
|
464 | |||||||
|
UniProtKB:A0A8M9PSK4
|
323 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
runx2b-201
(1)
|
Ensembl | 1,707 nt | ||
| mRNA |
runx2b-202
(1)
|
Ensembl | 1,533 nt | ||
| mRNA |
runx2b-203
(1)
|
Ensembl | 1,128 nt | ||
| mRNA |
runx2b-204
(1)
|
Ensembl | 675 nt | ||
| mRNA |
runx2b-205
(1)
|
Ensembl | 2,491 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(runx2b:Hsa.PTDFF1-IRES-NLS-mCherry,myl7:EGFP) |
|
| 1 | Seda et al., 2019 | |
| Tg(runx2b:Hsa.PTDSS1_Q353R-IRES-NLS-mCherry,myl7:EGFP) |
|
| 1 | Seda et al., 2019 |
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| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH73-252E7 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-96J11 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_212862 (1) | 1750 nt | ||
| Genomic | GenBank:LO018405 (1) | 122425 nt | ||
| Polypeptide | UniProtKB:A0A8M1PMM2 (1) | 464 aa |
- 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
- Niu, M., Whang, H., Wu, Z., ShouwenJiang, ., Chen, L. (2024) The deletion of Asb15b gene can lead to a significant decrease in zebrafish intermuscular bone. Gene. 923:148561
- 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
- Zebrafish Nomenclature Committee (2024) Nomenclature Data Curation (2024). Nomenclature Committee Submission.
- 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
- Dalle Carbonare, L., Minoia, A., Braggio, M., Bertacco, J., Piritore, F.C., Zouari, S., Vareschi, A., Elia, R., Vedovi, E., Scumà, C., Carlucci, M., Bhandary, L., Mottes, M., Romanelli, M.G., Valenti, M.T. (2023) Modulation of miR-146b Expression during Aging and the Impact of Physical Activity on Its Expression and Chondrogenic Progenitors. International Journal of Molecular Sciences. 24(17):
- Daponte, V., Tonelli, F., Masiero, C., Syx, D., Exbrayat-Héritier, C., Biggiogera, M., Willaert, A., Rossi, A., Coucke, P.J., Ruggiero, F., Forlino, A. (2023) Cell differentiation and matrix organization are differentially affected during bone formation in osteogenesis imperfecta zebrafish models with different genetic defects impacting collagen type I structure. Matrix biology : journal of the International Society for Matrix Biology. 121:105-126
- Guo, W., Jin, P., Li, R., Huang, L., Liu, Z., Li, H., Zhou, T., Fang, B., Xia, L. (2023) Dynamic network biomarker identifies cdkn1a-mediated bone mineralization in the triggering phase of osteoporosis. Experimental & molecular medicine. 55(1):81-94
- Katkat, E., Demirci, Y., Heger, G., Karagulle, D., Papatheodorou, I., Brazma, A., Ozhan, G. (2023) Canonical Wnt and TGF-β/BMP signaling enhance melanocyte regeneration but suppress invasiveness, migration, and proliferation of melanoma cells. Frontiers in cell and developmental biology. 11:12979101297910
- Raterman, S.T., Von Den Hoff, J.W., Dijkstra, S., De Vriend, C., Te Morsche, T., Broekman, S., Zethof, J., De Vrieze, E., Wagener, F.A.D.T.G., Metz, J.R. (2023) Disruption of the foxe1 gene in zebrafish reveals conserved functions in development of the craniofacial skeleton and the thyroid. Frontiers in cell and developmental biology. 11:11438441143844
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