BMPR1B (bone morphogenetic protein receptor type 1B)

2003-12-01  

Identity

HGNC
BMPR1B
LOCATION
4q22.3
LOCUSID
658
ALIAS
ALK-6,ALK6,AMDD,BDA1D,BDA2,CDw293
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
355012532022BMPR1B Polymorphisms (rs1434536 and rs1970801) are Associated With Breast Cancer Susceptibility in Northwest Chinese Han Females: A Case-Control Study.1
355012532022BMPR1B Polymorphisms (rs1434536 and rs1970801) are Associated With Breast Cancer Susceptibility in Northwest Chinese Han Females: A Case-Control Study.1
320015292021The quiescent fraction of chronic myeloid leukemic stem cells depends on BMPR1B, Stat3 and BMP4-niche signals to persist in patients in remission.17
334868472021BMPR1B gene in brachydactyly type 2-A family with de novo R486W mutation and a disease phenotype.2
320015292021The quiescent fraction of chronic myeloid leukemic stem cells depends on BMPR1B, Stat3 and BMP4-niche signals to persist in patients in remission.17
334868472021BMPR1B gene in brachydactyly type 2-A family with de novo R486W mutation and a disease phenotype.2
317694942020BMPR1A and BMPR1B Missense Mutations Cause Primary Ovarian Insufficiency.14
327641102020BMPR1A is necessary for chondrogenesis and osteogenesis, whereas BMPR1B prevents hypertrophic differentiation.15
332154112020CDMP1 promotes type II collagen and aggrecan synthesis of nucleus pulposus cell via the mediation of ALK6.9
317694942020BMPR1A and BMPR1B Missense Mutations Cause Primary Ovarian Insufficiency.14
327641102020BMPR1A is necessary for chondrogenesis and osteogenesis, whereas BMPR1B prevents hypertrophic differentiation.15
332154112020CDMP1 promotes type II collagen and aggrecan synthesis of nucleus pulposus cell via the mediation of ALK6.9
307132132019Common Genetic Variants on Bone Morphogenetic Protein Receptor Type IB (BMPR1B) Gene Are Predictive for Carotid Intima-Media Thickness.2
307132132019Common Genetic Variants on Bone Morphogenetic Protein Receptor Type IB (BMPR1B) Gene Are Predictive for Carotid Intima-Media Thickness.2
291138312018The effect of ovarian reserve and receptor signalling on granulosa cell apoptosis during human follicle development.19

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-(bone-morphogenetic-protein-receptor-type-1b)