BMPR2
bone morphogenetic protein receptor type 2 | BMPR-II, BMPR3, BRK-3, T-ALK, PPH1

This gene encodes a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases. The ligands of this receptor are members of the TGF-beta superfamily. BMPs are involved in endochondral bone formation and embryogenesis. These proteins transduce their signals through the formation of heteromeric complexes of two different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Mutations in this gene have been associated with primary pulmonary hypertension, both familial and fenfluramine-associated, and with pulmonary venoocclusive disease. [provided by RefSeq, May 2020]

Member of: DE-4 DE-4.3 Developmental clusters: GC6
Biological processes 132 terms
ATP binding (GO:0005524)BMP binding (GO:0036122)BMP binding (GO:0036122)BMP receptor activity (GO:0098821)BMP receptor activity (GO:0098821)BMP signaling pathway (GO:0030509)BMP signaling pathway (GO:0030509)BMP signaling pathway (GO:0030509)BMP signaling pathway (GO:0030509)BMP signaling pathway (GO:0030509)BMP signaling pathway (GO:0030509)BMP signaling pathway (GO:0030509)activin receptor activity, type II (GO:0016362)activin receptor activity, type II (GO:0016362)activin receptor signaling pathway (GO:0032924)adherens junction (GO:0005912)anterior/posterior pattern specification (GO:0009952)aortic valve development (GO:0003176)aortic valve development (GO:0003176)apical plasma membrane (GO:0016324)artery development (GO:0060840)artery development (GO:0060840)atrial septum morphogenesis (GO:0060413)atrial septum morphogenesis (GO:0060413)atrioventricular valve morphogenesis (GO:0003181)axon (GO:0030424)basal plasma membrane (GO:0009925)blood vessel development (GO:0001568)blood vessel remodeling (GO:0001974)blood vessel remodeling (GO:0001974)cadherin binding (GO:0045296)cardiac muscle tissue development (GO:0048738)caveola (GO:0005901)caveola (GO:0005901)cell body (GO:0044297)cell differentiation (GO:0030154)cell junction (GO:0030054)cell surface (GO:0009986)cell surface receptor protein serine/threonine kinase signaling pathway (GO:0007178)cell surface receptor protein serine/threonine kinase signaling pathway (GO:0007178)cellular response to BMP stimulus (GO:0071773)cellular response to growth factor stimulus (GO:0071363)cellular response to starvation (GO:0009267)chondrocyte development (GO:0002063)clathrin-coated pit (GO:0005905)dendrite (GO:0030425)dendrite (GO:0030425)endocardial cushion development (GO:0003197)endocardial cushion development (GO:0003197)endochondral bone morphogenesis (GO:0060350)endothelial cell apoptotic process (GO:0072577)endothelial cell proliferation (GO:0001935)extracellular region (GO:0005576)growth factor binding (GO:0019838)lung alveolus development (GO:0048286)lung alveolus development (GO:0048286)lung development (GO:0030324)lung vasculature development (GO:0060426)lymphangiogenesis (GO:0001946)lymphangiogenesis (GO:0001946)lymphatic endothelial cell differentiation (GO:0060836)lymphatic endothelial cell differentiation (GO:0060836)membrane (GO:0016020)mesoderm formation (GO:0001707)mitral valve morphogenesis (GO:0003183)negative regulation of cell growth (GO:0030308)negative regulation of cell population proliferation (GO:0008285)negative regulation of cell population proliferation (GO:0008285)negative regulation of cell proliferation involved in heart morphogenesis (GO:2000137)negative regulation of cell proliferation involved in heart morphogenesis (GO:2000137)negative regulation of chondrocyte proliferation (GO:1902731)negative regulation of smooth muscle cell proliferation (GO:0048662)negative regulation of systemic arterial blood pressure (GO:0003085)negative regulation of vasoconstriction (GO:0045906)negative regulation of vasoconstriction (GO:0045906)neuronal cell body (GO:0043025)organelle (GO:0043226)osteoblast differentiation (GO:0001649)osteoblast differentiation (GO:0001649)outflow tract morphogenesis (GO:0003151)outflow tract morphogenesis (GO:0003151)outflow tract septum morphogenesis (GO:0003148)pharyngeal arch artery morphogenesis (GO:0061626)plasma membrane (GO:0005886)plasma membrane (GO:0005886)plasma membrane (GO:0005886)plasma membrane (GO:0005886)positive regulation of SMAD protein signal transduction (GO:0060391)positive regulation of SMAD protein signal transduction (GO:0060391)positive regulation of axon extension involved in axon guidance (GO:0048842)positive regulation of bone mineralization (GO:0030501)positive regulation of cartilage development (GO:0061036)positive regulation of cell differentiation (GO:0045597)positive regulation of epithelial cell migration (GO:0010634)positive regulation of gene expression (GO:0010628)positive regulation of locomotion (GO:0040017)positive regulation of ossification (GO:0045778)positive regulation of ossification (GO:0045778)positive regulation of osteoblast differentiation (GO:0045669)positive regulation of transcription by RNA polymerase II (GO:0045944)positive regulation of transcription by RNA polymerase II (GO:0045944)positive regulation of transcription by RNA polymerase II (GO:0045944)postsynaptic density (GO:0014069)protein binding (GO:0005515)protein kinase activity (GO:0004672)protein serine/threonine kinase activity (GO:0004674)protein tyrosine kinase binding (GO:1990782)proteoglycan biosynthetic process (GO:0030166)pulmonary valve development (GO:0003177)pulmonary valve development (GO:0003177)regulation of cell growth (GO:0001558)regulation of cell population proliferation (GO:0042127)regulation of lung blood pressure (GO:0014916)regulation of lung blood pressure (GO:0014916)regulation of lung blood pressure (GO:0014916)regulation of multicellular organismal development (GO:2000026)retina development in camera-type eye (GO:0060041)retina vasculature development in camera-type eye (GO:0061298)retina vasculature development in camera-type eye (GO:0061298)semi-lunar valve development (GO:1905314)semi-lunar valve development (GO:1905314)signaling receptor complex (GO:0043235)stem cell differentiation (GO:0048863)tissue development (GO:0009888)transforming growth factor beta receptor activity (GO:0005024)transmembrane receptor protein serine/threonine kinase activity (GO:0004675)tricuspid valve morphogenesis (GO:0003186)vasculature development (GO:0001944)venous blood vessel development (GO:0060841)venous blood vessel development (GO:0060841)ventricular septum morphogenesis (GO:0060412)ventricular septum morphogenesis (GO:0060412)
Expression (TPM)
BMPR2 — as a Regulated Gene

TFs regulating BMPR2 0 TFs

Transcription factors with Perturb-seq knockdown data for BMPR2. The Binding column indicates whether any binding evidence exists for this TF–gene pair (ChIP-seq or motif footprint peaks). The Mean coef is the average Perturb-seq regression coefficient across active gRNAs (positive = BMPR2 upregulated upon KD; negative = downregulated). The Outlier column indicates whether this gene is in the top or bottom 5% of all TF knockdown effects.

Data: Effect:
TF Mean coef Binding Outlier TF→Gene link

Elements linked to BMPR2

Open chromatin peaks (ATAC-seq) in the genomic neighbourhood of BMPR2, linked by TSS proximity or chromatin conformation (Multiome / HiCAR). Each element overlaps at least one TF ChIP-seq binding site — the TFs column shows how many distinct TFs bind that element.

Accessibility Element Dist. to TSS Link type TFs
chr2:202,148,653–202,149,792 227.0 kb Distal (>10kb) Multiome 213
chr2:202,163,899–202,164,942 211.8 kb Distal (>10kb) Multiome 79
chr2:202,237,794–202,239,082 137.8 kb Distal (>10kb) Multiome 820
chr2:202,249,669–202,250,510 126.2 kb Distal (>10kb) Multiome 213
chr2:202,265,167–202,266,195 110.6 kb Distal (>10kb) Multiome 931
chr2:202,374,983–202,377,090 229 bp At TSS Multiome 979
chr2:202,377,279–202,377,677 953 bp At TSS 464
chr2:202,417,747–202,419,134 42.4 kb Distal (>10kb) Multiome 197
chr2:202,494,924–202,495,550 118.9 kb Distal (>10kb) Multiome 49
chr2:202,588,516–202,589,312 212.5 kb Distal (>10kb) Multiome 565
chr2:202,634,508–202,636,378 258.5 kb Distal (>10kb) Multiome 995

Genome Browser

Genomic view of the BMPR2 locus showing ATAC-seq accessibility and RNA-seq expression across the ESC → DE time course, together with TF binding peaks and element-to-TSS loop connections.

chr2:202,138,653 – 202,646,378
Proximal 1 kb Distal 10 kb Multiome HiCAR ATAC-seq RNA-seq
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