View BMPR2 gene homepage

General information
Gene symbol BMPR2
Gene name bone morphogenetic protein receptor, type II (serine/threonine kinase)
Chromosome 2
Chromosomal band q33-q34
Imprinted Unknown
Genomic reference NG_009363.1
Transcript reference NM_001204.6
Exon/intron information NM_001204.6 exon/intron table
Associated with diseases PPH-1, Pulmonary veno-occlusive disease
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 4
Unique public DNA variants reported 3
Individuals with public variants 4
Hidden variants 0
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created April 05, 2011
Date last updated May 27, 2017
Version BMPR2:170527

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_001204.6.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL http://www.LOVD.nl/BMPR2
External URL Orphanet
HGNC 1078
Entrez Gene 659
PubMed articles BMPR2
OMIM - Gene 600799
OMIM - Diseases PPH-1 (hypertension, pulmonary, primary, type 1 (PPH-1))
Pulmonary veno-occlusive disease
HGMD BMPR2
GeneCards BMPR2
GeneTests BMPR2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000022 2 bone morphogenetic protein receptor, type II (serine/threonine kinase) NM_001204.6 NP_001195.2 4


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