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 enable BMP receptor binding activity and cytokine activity. Acts upstream of or within exocrine pancreas development and positive regulation of BMP signaling pathway. Predicted to be located in extracellular region. Predicted to be active in extracellular space. Is expressed in several structures, including digestive system; fin; fin bud; mesoderm; and visual system. Human ortholog(s) of this gene implicated in bone disease (multiple); hemochromatosis type 1; otosclerosis; prostate cancer; and tooth agenesis. 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