The BMPR1B gene homepage

General information
Gene symbol BMPR1B
Gene name bone morphogenetic protein receptor, type IB
Chromosome 4
Chromosomal band q23-q24
Imprinted Unknown
Genomic reference NG_009245.1
Transcript reference NM_001203.2, NM_001256792.1, NM_001256793.1, NM_001256794.1
Exon/intron information NM_001203.2 exon/intron table
Associated with diseases ACGA, AMDG, BD-A2
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Petra Seemann
Total number of public variants reported 32
Unique public DNA variants reported 22
Individuals with public variants 15
Hidden variants 8
Date created May 03, 2013
Date last updated February 08, 2021
Version BMPR1B:210208

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_001203.2.
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 http://www.LOVD.nl/BMPR1B
HGNC 1077
Entrez Gene 658
PubMed articles BMPR1B
OMIM - Gene 603248
OMIM - Diseases ACGA (chondrodysplasia, acromesomelic, with genital anomalies (ACGA))
AMDG (chondrodysplasia, acromesomelic, type Grebe (AMDG))
BD-A2 (brachydactyly, type A2 (BD-A2))
HGMD BMPR1B
GeneCards BMPR1B
GeneTests BMPR1B
Orphanet BMPR1B


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00003436 4 bone morphogenetic protein receptor, type IB NM_001203.2 NP_001194.1 32
00023846 4 transcript variant 1 NM_001256793.1 NP_001243722.1 18
00023847 4 transcript variant 3 NM_001256792.1 NP_001243721.1 18
00023848 4 transcript variant 4 NM_001256794.1 NP_001243723.1 18


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