Gene
bmpr2a
- ID
- ZDB-GENE-070618-1
- Name
- bone morphogenetic protein receptor, type II a (serine/threonine kinase)
- Symbol
- bmpr2a Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 6 Mapping Details/Browsers
- Description
- Enables transforming growth factor beta receptor activity. Acts upstream of or within several processes, including circulatory system development; fin regeneration; and notochord morphogenesis. Predicted to be located in membrane. Predicted to be part of receptor complex. Predicted to be active in plasma membrane. Is expressed in several structures, including blood island; ovary; pronephric duct; tail bud; and trunk vasculature. Human ortholog(s) of this gene implicated in heart septal defect; primary pulmonary hypertension; pulmonary hypertension; and pulmonary venoocclusive disease. Orthologous to human BMPR2 (bone morphogenetic protein receptor type 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 6 figures from 6 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 10 figures from 6 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| primary pulmonary hypertension | Alliance | Pulmonary hypertension, familial primary, 1, with or without HHT | 178600 |
| primary pulmonary hypertension | Alliance | Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated | 178600 |
| pulmonary venoocclusive disease 1 | Alliance | Pulmonary venoocclusive disease 1 | 265450 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Binding_site | IPR017441 | Protein kinase, ATP binding site |
| Domain | IPR000472 | Activin types I and II receptor domain |
| Domain | IPR000719 | Protein kinase domain |
| Family | IPR000333 | Ser/Thr protein kinase, TGFB receptor |
| Homologous_superfamily | IPR011009 | Protein kinase-like domain superfamily |
| Homologous_superfamily | IPR045860 | Snake toxin-like superfamily |
Domain Details Per Protein
| Protein | Length | Activin types I and II receptor domain | Protein kinase, ATP binding site | Protein kinase domain | Protein kinase-like domain superfamily | Ser/Thr protein kinase, TGFB receptor | Snake toxin-like superfamily |
|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M2BD77
|
1013 | ||||||
|
UniProtKB:Q288P3
|
1003 | ||||||
|
UniProtKB:A0A8M3AT76
|
561 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
bmpr2a-201
(1)
|
Ensembl | 4,414 nt | ||
| ncRNA |
bmpr2a-002
(1)
|
Ensembl | 455 nt | ||
| ncRNA |
bmpr2a-003
(1)
|
Ensembl | 488 nt |
Interactions and Pathways
Plasmids