The BMPR1A gene homepage

General information
Gene symbol BMPR1A
Gene name bone morphogenetic protein receptor, type IA
Chromosome 10
Chromosomal band q22.3
Imprinted Unknown
Genomic reference LRG_298
Transcript reference NM_004329.2
Exon/intron information NM_004329.2 exon/intron table
Associated with diseases HMPS2, JPS
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (3) Karl Heinimann, Robert Blatter, and Benjamin Tschupp
Total number of public variants reported 421
Unique public DNA variants reported 165
Individuals with public variants 345
Hidden variants 7
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated November 27, 2023
Version BMPR1A:231127

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_004329.2.
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
HGNC 1076
Entrez Gene 657
PubMed articles BMPR1A
OMIM - Gene 601299
OMIM - Diseases HMPS2 (polyposis syndrome, hereditary mixed, type 2 (HMPS-2))
JPS (polyposis syndrome, juvenile (JPS))
GeneCards BMPR1A
GeneTests BMPR1A
Orphanet BMPR1A

Active transcripts




NCBI ID     

NCBI Protein ID     

00003435 10 bone morphogenetic protein receptor, type IA NM_004329.2 NP_004320.2 421

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