BMPR2 (bone morphogenetic protein receptor type 2)

2003-11-01  

Identity

HGNC
BMPR2
LOCATION
2q33.1
LOCUSID
659
ALIAS
BMPR-II,BMPR3,BMR2,BRK-3,POVD1,PPH1,T-ALK
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 659
MIM: 600799
HGNC: 1078
Ensembl: ENSG00000204217

Variants:

dbSNP: 659
ClinVar: 659
TCGA: ENSG00000204217
COSMIC: BMPR2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000204217ENST00000374574Q13873
ENSG00000204217ENST00000374580Q13873
ENSG00000204217ENST00000638587A0A1W2PPB5

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50
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
MicroRNAs in cancerKEGGhsa05206
MicroRNAs in cancerKEGGko05206
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

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
384739832024Hemodynamic and Clinical Profiles of Pulmonary Arterial Hypertension Patients with GDF2 and BMPR2 Variants.0
387170322024MiR-143-3p regulates chondrogenic differentiation of synovium derived mesenchymal stem cells under mechanical stress through the BMPR2-Smad signalling pathway by targeting BMPR2.0
387914412024BMPR2 Loss Activates AKT by Disrupting DLL4/NOTCH1 and PPARγ Signaling in Pulmonary Arterial Hypertension.0
384739832024Hemodynamic and Clinical Profiles of Pulmonary Arterial Hypertension Patients with GDF2 and BMPR2 Variants.0
387170322024MiR-143-3p regulates chondrogenic differentiation of synovium derived mesenchymal stem cells under mechanical stress through the BMPR2-Smad signalling pathway by targeting BMPR2.0
387914412024BMPR2 Loss Activates AKT by Disrupting DLL4/NOTCH1 and PPARγ Signaling in Pulmonary Arterial Hypertension.0
366722502023PTPN1 Deficiency Modulates BMPR2 Signaling and Induces Endothelial Dysfunction in Pulmonary Arterial Hypertension.2
366751622023BMPR2 Variants Underlie Nonsyndromic Oligodontia.0
367444942023Dysregulated Smooth Muscle Cell BMPR2-ARRB2 Axis Causes Pulmonary Hypertension.8
369075262023BMPR2 as a Novel Predisposition Gene for Hereditary Colorectal Polyposis.2
369177782023Vascular-Parenchymal Cross-Talk Promotes Lung Fibrosis through BMPR2 Signaling.14
370947382023Isolated Pulmonary Arteriovenous Malformations Associated With BMPR2 Pathogenic Variants.1
371914882023Imaging Features in BMPR2 Mutation-associated Pulmonary Arterial Hypertension.0
372781692023[Hereditary pulmonary hypertension family with BMPR2 gene variation: a case report and literature review].0
375588362023Human liver single nuclear RNA sequencing implicates BMPR2, GDF15, arginine, and estrogen in portopulmonary hypertension.0

Citation

Dessen P

BMPR2 (bone morphogenetic protein receptor type 2)

Atlas Genet Cytogenet Oncol Haematol. 2003-11-01

Online version: http://atlasgeneticsoncology.org/gene/818/bmpr2-(bone-morphogenetic-protein-receptor-type-2)