Gene
bmp2a
- ID
- ZDB-GENE-980526-388
- Name
- bone morphogenetic protein 2a
- Symbol
- bmp2a Nomenclature History
- Previous Names
-
- bmp2
- wu:fc59d09
- Type
- protein_coding_gene
- Location
- Chr: 17 Mapping Details/Browsers
- Description
- Predicted to have cytokine activity. Involved in positive regulation of BMP signaling pathway. 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 brain; digestive system; fin; mesoderm; and visual system. Orthologous to human BMP2 (bone morphogenetic protein 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 39 figures from 30 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- eu125 (14 images)
Wild Type Expression Summary
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:O13109
|
386 |
Interactions and Pathways
No data available
Plasmids
No data available