Gene
bmp2b
- ID
- ZDB-GENE-980526-474
- Name
- bone morphogenetic protein 2b
- Symbol
- bmp2b Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 20 Mapping Details/Browsers
- Description
- Enables identical protein binding activity and protein heterodimerization activity. Involved in dorsal/ventral axis specification. Acts upstream of or within several processes, including embryonic morphogenesis; nervous system development; and regionalization. Predicted to be located in extracellular region. Predicted to be active in extracellular space. Is expressed in several structures, including cardiovascular system; digestive system; ectoderm; fin; and mesoderm. Human ortholog(s) of this gene implicated in several diseases, including bone disease (multiple); hemochromatosis type 1; otosclerosis; short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1; and tooth agenesis. Orthologous to human BMP2 (bone morphogenetic protein 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 176 figures from 134 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb670 (47 images)
Wild Type Expression Summary
- All Phenotype Data
- 43 figures from 26 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| bmp2b_unspecified | Unspecified Allele | Unknown | Unknown | not specified | |
| sa18243 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| ta72a | Allele with one point mutation | Unknown | Stop Loss | ENU | |
| tc300a | Allele with one point mutation | Unknown | Missense | ENU | |
| tdc24 | Allele with one point mutation | Unknown | Premature Stop | not specified | |
| umo34 | Allele with one deletion | Unknown | Unknown | CRISPR | |
| zf3705Tg | Transgenic insertion | Unknown | Unknown | DNA and CRISPR | |
| zf3958 | Allele with one deletion | Exon 3 | Frameshift, Premature Stop | CRISPR |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-bmp2b | Zebrafish Nomenclature Committee | |
| CRISPR2-bmp2b | He et al., 2020 | |
| CRISPR3-bmp2b | He et al., 2020 | |
| CRISPR4-bmp2b | Wu et al., 2022 | |
| CRISPR5-bmp2b | Zhang et al., 2024 | |
| MO1-bmp2b | N/A | (14) |
| MO2-bmp2b | N/A | (13) |
| MO3-bmp2b | N/A | (2) |
| MO4-bmp2b | N/A | Cruz et al., 2010 |
| MO5-bmp2b | N/A | (2) |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| brachydactyly type A2 | Alliance | Brachydactyly, type A2 | 112600 |
| hemochromatosis type 1 | Alliance | {HFE hemochromatosis, modifier of} | 235200 |
| short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 | Alliance | Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 | 617877 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR017948 | Transforming growth factor beta, conserved site |
| Domain | IPR001111 | TGF-beta, propeptide |
| Domain | IPR001839 | Transforming growth factor-beta, C-terminal |
| Family | IPR015615 | Transforming growth factor-beta-related |
| Homologous_superfamily | IPR029034 | Cystine-knot cytokine |
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Domain Details Per Protein
| Protein | Additional Resources | Length | Cystine-knot cytokine | TGF-beta, propeptide | Transforming growth factor beta, conserved site | Transforming growth factor-beta, C-terminal | Transforming growth factor-beta-related |
|---|---|---|---|---|---|---|---|
| UniProtKB:O93369 | InterPro | 411 |
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Interactions and Pathways
Plasmids
| Construct | Regulatory Region | Coding Sequence | Species | Tg Lines | Citations |
|---|---|---|---|---|---|
| Tg(hsp70l:bmp2b) |
|
| 1 | (51) | |
| Tg1(hsp70l:bmp2b) |
|
| 1 | (3) | |
| Tg(-2.27bmp2b:bmp2b-EGFP) |
|
|
| 1 | Xue et al., 2016 |
| Tg2(hsp70l:bmp2b) |
|
| 1 | Castro et al., 2021 | |
| Tg(UAS:bmp2b-UTRnanos3) |
|
| 1 | (2) |
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| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-213I16 | ZFIN Curated Data | |
| Encodes | EST | cb670 | Thisse et al., 2001 | |
| Encodes | cDNA | MGC:92556 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:136722 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_131360 (1) | 2001 nt | ||
| Genomic | GenBank:AL929237 (2) | 164494 nt | ||
| Polypeptide | UniProtKB:O93369 (1) | 411 aa |
- Klem, J.R., Schwantes-An, T.H., Abreu, M., Suttie, M., Gray, R., Vo, H., Conley, G., Foroud, T.M., Wetherill, L., CIFASD, Lovely, C.B. (2025) Mutations in the Bone Morphogenetic Protein signaling pathway sensitize zebrafish and humans to ethanol-induced jaw malformations. Disease models & mechanisms. :
- Zebrafish Nomenclature Committee (2025) Nomenclature Data Curation (2025). Nomenclature Committee Submission.
- Bowley, G., Irving, S., Hoefer, I., Wilkinson, R., Pasterkamp, G., Darwish, H.M.S., White, S., Francis, S.E., Chico, T., Noel, E., Serbanovic-Canic, J., Evans, P.C. (2024) Zebrafish model for functional screening of flow-responsive genes controlling endothelial cell proliferation. Scientific Reports. 14:3013030130
- Li, Y., Yan, Y., Gong, B., Zheng, Q., Zhou, H., Sun, J., Li, M., Wang, Z., Li, Y., Wan, Y., Chen, W., Qi, S., Mo, X., Meng, A., Xiang, B., Chen, J. (2024) A Huluwa phosphorylation switch regulates embryonic axis induction. Nature communications. 15:1002810028
- Lovely, C.B. (2024) Bone Morphogenetic Protein signaling pathway - ethanol interactions disrupt palate formation independent of gata3. Reproductive toxicology (Elmsford, N.Y.). 131:108754
- Raterman, S.T., Wagener, F.A.D.T.G., Zethof, J., Cuijpers, V., Klaren, P.H.M., Metz, J.R., Von den Hoff, J.W. (2024) foxe1 mutant zebrafish show indications of a hypothyroid phenotype and increased sensitivity to ethanol for craniofacial malformations. Developmental Dynamics : an official publication of the American Association of Anatomists. :
- Veloso, A., Bleuart, A., Conrard, L., Orban, T., Bruyr, J., Cabochette, P., Germano, R.F.V., Schevenels, G., Bernard, A., Zindy, E., Demeyer, S., Vanhollebeke, B., Dequiedt, F., Martin, M. (2024) The cytoskeleton adaptor protein Sorbs1 controls the development of lymphatic and venous vessels in zebrafish. BMC Biology. 22:5151
- Zhang, C., Wei, W., Lu, T., Zhang, Y., Li, J., Wang, J., Chen, A., Wen, F., Shao, M. (2024) Generation of Zebrafish Maternal Mutants via Oocyte-Specific Knockout System. Bio-protocol. 14:e5092e5092
- Cadete, F., Francisco, M., Freitas, R. (2023) Bmp-signaling and the finfold size in zebrafish: implications for the fin-to-limb transition. Evolution; international journal of organic evolution. 77(5):1262-1271
- Čapek, D., Safroshkin, M., Morales-Navarrete, H., Toulany, N., Arutyunov, G., Kurzbach, A., Bihler, J., Hagauer, J., Kick, S., Jones, F., Jordan, B., Müller, P. (2023) EmbryoNet: using deep learning to link embryonic phenotypes to signaling pathways. Nature Methods. 20(6):815-823
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