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
- Exhibits identical protein binding activity and protein heterodimerization activity. Involved in several processes, including animal organ development; determination of bilateral symmetry; and gastrulation. Predicted to localize to extracellular space. Human ortholog(s) of this gene implicated in bone disease (multiple); hemochromatosis type 1; otosclerosis; prostate cancer; and tooth agenesis. Is expressed in several structures, including cardiovascular system; digestive system; ectoderm; fin; and mesoderm. Orthologous to human BMP2 (bone morphogenetic protein 2).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 172 figures from 130 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
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 |
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 |
Domain Details Per Protein
Protein | 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
|
411 |
Interactions and Pathways
Plasmids