Gene
bmpr2b
- ID
- ZDB-GENE-070618-2
- Name
- bone morphogenetic protein receptor, type II b (serine/threonine kinase)
- Symbol
- bmpr2b Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 9 Mapping Details/Browsers
- Description
- Exhibits transforming growth factor beta-activated receptor activity. Involved in BMP signaling pathway; circulatory system development; and notochord morphogenesis. Predicted to localize to plasma membrane and receptor complex. Human ortholog(s) of this gene implicated in heart septal defect; primary pulmonary hypertension; pulmonary hypertension; and pulmonary venoocclusive disease. Is expressed in several structures, including blood island; cardiovascular system; gut; ovary; and posterior pronephric duct. Orthologous to human BMPR2 (bone morphogenetic protein receptor type 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 9 figures from 9 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
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:Q288P2
|
1071 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
bmpr2b-201
(1)
|
Ensembl | 4,030 nt | ||
| ncRNA |
bmpr2b-002
(1)
|
Ensembl | 591 nt |
Interactions and Pathways
Plasmids
No data available