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
Expression
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
All Phenotype Data
8 figures from 4 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With bmpr2b Human Ortholog
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
Associated With bmpr2b Via Experimental Models
No data available
Gene Ontology
Protein Domains
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
Transcripts
Genome Browsers
Interactions and Pathways
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations