BMPR1B (bone morphogenetic protein receptor type 1B)

2003-12-01  

Identity

HGNC
LOCATION
4q22.3
LOCUSID
ALIAS
ALK-6,ALK6,AMDD,BDA1D,BDA2,CDw293
FUSION GENES

Other Information

Locus ID:

NCBI: 658
MIM: 603248
HGNC: 1077
Ensembl: ENSG00000138696

Variants:

dbSNP: 658
ClinVar: 658
TCGA: ENSG00000138696
COSMIC: BMPR1B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000138696ENST00000264568O00238
ENSG00000138696ENST00000394931O00238
ENSG00000138696ENST00000440890O00238
ENSG00000138696ENST00000506363D6RGW8
ENSG00000138696ENST00000509540O00238
ENSG00000138696ENST00000512312O00238
ENSG00000138696ENST00000515059O00238

Expression (GTEx)

0
5
10
15
20

Pathways

PathwaySourceExternal ID
Cytokine-cytokine receptor interactionKEGGko04060
TGF-beta signaling pathwayKEGGko04350
Axon guidanceKEGGko04360
Cytokine-cytokine receptor interactionKEGGhsa04060
TGF-beta signaling pathwayKEGGhsa04350
Axon guidanceKEGGhsa04360
Hippo signaling pathwayKEGGhsa04390
Hippo signaling pathwayKEGGko04390
Signaling pathways regulating pluripotency of stem cellsKEGGhsa04550
Signaling pathways regulating pluripotency of stem cellsKEGGko04550
BMP signalingKEGGhsa_M00679
BMP signalingKEGGM00679
Signal TransductionREACTOMER-HSA-162582
Signaling by BMPREACTOMER-HSA-201451
Fluid shear stress and atherosclerosisKEGGko05418
Fluid shear stress and atherosclerosisKEGGhsa05418

References

Pubmed IDYearTitleCitations
152350192004The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations.68
197380522009A risk variant in an miR-125b binding site in BMPR1B is associated with breast cancer pathogenesis.55
145232312003Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2.48
202019262010Human variation in alcohol response is influenced by variation in neuronal signaling genes.45
207340642010A large-scale candidate gene association study of age at menarche and age at natural menopause.38
205870702010Expression of bone morphogenetic protein-2 and its receptors in epithelial ovarian cancer and their influence on the prognosis of ovarian cancer patients.30
222935012012Oligomeric interactions of TGF-β and BMP receptors.29
240212642013Mechanical regulation of cancer cell apoptosis and autophagy: roles of bone morphogenetic protein receptor, Smad1/5, and p38 MAPK.29
223741472012Missense mutations of the BMPR1B (ALK6) gene in childhood idiopathic pulmonary arterial hypertension.27
194532612009High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men.20

Citation

Dessen P

BMPR1B (bone morphogenetic protein receptor type 1B)

Atlas Genet Cytogenet Oncol Haematol. 2003-12-01

Online version: http://atlasgeneticsoncology.org/gene/817/bmpr1b