Details for: BMPR2

Gene ID: 659

Symbol: BMPR2

Ensembl ID: ENSG00000204217

Description: bone morphogenetic protein receptor type 2

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: neuron associated cell (sensu Vertebrata) (CL0000123)
    Fold Change: 4.89
    Marker Score: 25673.5
  • Cell Name: neuronal brush cell (CL0000555)
    Fold Change: 4.61
    Marker Score: 15443.5
  • Cell Name: stellate neuron (CL0000122)
    Fold Change: 4.43
    Marker Score: 23819
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 4.28
    Marker Score: 3220
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 4.23
    Marker Score: 142991
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 4.09
    Marker Score: 72645
  • Cell Name: endothelial cell of vascular tree (CL0002139)
    Fold Change: 3.79
    Marker Score: 5504
  • Cell Name: granule cell (CL0000120)
    Fold Change: 3.77
    Marker Score: 28434
  • Cell Name: epithelial cell of lower respiratory tract (CL0002632)
    Fold Change: 3.57
    Marker Score: 14876
  • Cell Name: macroglial cell (CL0000126)
    Fold Change: 3.44
    Marker Score: 7901
  • Cell Name: chromaffin cell (CL0000166)
    Fold Change: 3.41
    Marker Score: 4799
  • Cell Name: endocardial cell (CL0002350)
    Fold Change: 3.17
    Marker Score: 1793
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 3.07
    Marker Score: 26961
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 3.04
    Marker Score: 2627
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 2.94
    Marker Score: 5662
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 2.84
    Marker Score: 1696
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 2.79
    Marker Score: 12924
  • Cell Name: alveolar capillary type 1 endothelial cell (CL4028002)
    Fold Change: 2.75
    Marker Score: 6984
  • Cell Name: contractile cell (CL0000183)
    Fold Change: 2.7
    Marker Score: 1462
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 2.69
    Marker Score: 5905
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 2.65
    Marker Score: 2523.5
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 2.6
    Marker Score: 51765.5
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 2.58
    Marker Score: 54964.5
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 2.55
    Marker Score: 19581
  • Cell Name: alveolar type 2 fibroblast cell (CL4028006)
    Fold Change: 2.53
    Marker Score: 1409
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 2.48
    Marker Score: 94030
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 2.47
    Marker Score: 10324
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 2.46
    Marker Score: 36817
  • Cell Name: brainstem motor neuron (CL2000047)
    Fold Change: 2.43
    Marker Score: 1412
  • Cell Name: pulmonary artery endothelial cell (CL1001568)
    Fold Change: 2.43
    Marker Score: 2091
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 2.42
    Marker Score: 2788
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 2.33
    Marker Score: 2819
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 2.33
    Marker Score: 85879
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 2.32
    Marker Score: 9632
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 2.3
    Marker Score: 51505.5
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 2.3
    Marker Score: 1513
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 2.29
    Marker Score: 958
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 2.23
    Marker Score: 1304
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 2.2
    Marker Score: 8510
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 2.17
    Marker Score: 2704
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 2.15
    Marker Score: 20215
  • Cell Name: CNS interneuron (CL0000402)
    Fold Change: 2.12
    Marker Score: 1017
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 2.11
    Marker Score: 2634
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 2.11
    Marker Score: 2841.5
  • Cell Name: fat cell (CL0000136)
    Fold Change: 2.08
    Marker Score: 1164
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 2.06
    Marker Score: 1155
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: 2.05
    Marker Score: 1683
  • Cell Name: lung goblet cell (CL1000143)
    Fold Change: 2.05
    Marker Score: 590
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 2.04
    Marker Score: 125683.5
  • Cell Name: alveolar capillary type 2 endothelial cell (CL4028003)
    Fold Change: 2.04
    Marker Score: 2958
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 2.02
    Marker Score: 1400
  • Cell Name: endothelial cell of uterus (CL0009095)
    Fold Change: 2.02
    Marker Score: 4025
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 2.01
    Marker Score: 636
  • Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
    Fold Change: 2.01
    Marker Score: 2151.5
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 2
    Marker Score: 770
  • Cell Name: endocrine cell (CL0000163)
    Fold Change: 1.97
    Marker Score: 1018.5
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.96
    Marker Score: 20203
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 1.95
    Marker Score: 2349
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 1.94
    Marker Score: 729.5
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 1.93
    Marker Score: 1714
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 1.91
    Marker Score: 559
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.9
    Marker Score: 18053
  • Cell Name: neuron (CL0000540)
    Fold Change: 1.9
    Marker Score: 7716
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 1.89
    Marker Score: 30384
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 1.89
    Marker Score: 2037.5
  • Cell Name: ganglion interneuron (CL0000397)
    Fold Change: 1.88
    Marker Score: 571
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.85
    Marker Score: 15927
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 1.85
    Marker Score: 2092
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 1.85
    Marker Score: 1075
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 1.84
    Marker Score: 1416
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 1.82
    Marker Score: 5197
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 1.76
    Marker Score: 2957
  • Cell Name: endothelial cell of periportal hepatic sinusoid (CL0019021)
    Fold Change: 1.73
    Marker Score: 477
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 1.73
    Marker Score: 1549
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 1.73
    Marker Score: 472
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 1.71
    Marker Score: 434
  • Cell Name: sympathetic neuron (CL0011103)
    Fold Change: 1.7
    Marker Score: 561
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 1.69
    Marker Score: 1869
  • Cell Name: capillary endothelial cell (CL0002144)
    Fold Change: 1.68
    Marker Score: 1803
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 1.67
    Marker Score: 881
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 1.66
    Marker Score: 2049
  • Cell Name: cell of skeletal muscle (CL0000188)
    Fold Change: 1.66
    Marker Score: 1260
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 1.64
    Marker Score: 812
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 1.62
    Marker Score: 5310.5
  • Cell Name: subcutaneous fat cell (CL0002521)
    Fold Change: 1.61
    Marker Score: 587
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 1.59
    Marker Score: 5648
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.59
    Marker Score: 2450
  • Cell Name: vein endothelial cell (CL0002543)
    Fold Change: 1.59
    Marker Score: 1432
  • Cell Name: central nervous system macrophage (CL0000878)
    Fold Change: 1.57
    Marker Score: 779
  • Cell Name: retinal blood vessel endothelial cell (CL0002585)
    Fold Change: 1.54
    Marker Score: 371
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 1.54
    Marker Score: 6424.5
  • Cell Name: mature microglial cell (CL0002629)
    Fold Change: 1.54
    Marker Score: 555
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 1.54
    Marker Score: 3845.5
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 1.52
    Marker Score: 483
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 1.52
    Marker Score: 1318
  • Cell Name: podocyte (CL0000653)
    Fold Change: 1.51
    Marker Score: 559
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: 1.46
    Marker Score: 765
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 1.45
    Marker Score: 455
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 1.45
    Marker Score: 1472
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 1.45
    Marker Score: 3465

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Other Information

**Key characteristics:** * BMPR2 is a type II transmembrane receptor that is expressed in a variety of cell types. * It is a key regulator of vascular development, and its expression is upregulated in tumors that develop in tissues that are involved in blood vessel formation. * BMPR2 is also involved in the regulation of cell growth, proliferation, and differentiation. **Pathways and functions:** * BMPR2 is a key regulator of blood vessel development. It is expressed in the developing blood vessels of the embryo, and its expression is upregulated in tumors that develop in tissues that are involved in blood vessel formation. * BMPR2 is also involved in the regulation of cell growth, proliferation, and differentiation. It is expressed in a variety of cell types, including neurons, endothelial cells, and epithelial cells. * In neurons, BMPR2 is essential for the survival and differentiation of neurons. It is also involved in the regulation of synaptic plasticity and learning and memory. * In endothelial cells, BMPR2 is involved in the formation and maintenance of blood vessels. It is also involved in the regulation of angiogenesis, the process by which new blood vessels form. **Clinical significance:** BMPR2 is a promising target for the treatment of cancer. Blocking BMPR2 signaling has been shown to inhibit tumor growth and metastasis. This has led to the development of a number of drugs that are currently used to treat cancer, including imatinib (Gleevec) and bevacizumab (Avastin).

Genular Protein ID: 2996767760

Symbol: BMPR2_HUMAN

Name: Bone morphogenetic protein receptor type-2

UniProtKB Accession Codes:

Q13873 Q13161 Q16569 Q4ZG08 Q53SA5 Q585T8

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CPTAC 1 CTD 1 ChEBI 17 ChEMBL 1 ChiTaRS 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 2 DrugCentral 1 EC 3 ELM 1 EMBL 9 EPD 1 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 75 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 6 KEGG 1 MANE-Select 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 3 OrthoDB 1 PANTHER 2 PDB 11 PDBsum 7 PIR 1 PRO 1 PROSITE 2 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 1 RefSeq 1 Rhea 6 SAM 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 7791754

Title: Human type II receptor for bone morphogenic proteins (BMPs): extension of the two-kinase receptor model to the BMPs.

PubMed ID: 7791754

DOI: 10.1128/mcb.15.7.3479

PubMed ID: 7644468

Title: Cloning and characterization of a human type II receptor for bone morphogenetic proteins.

PubMed ID: 7644468

DOI: 10.1073/pnas.92.17.7632

PubMed ID: 7673243

Title: Identification of a human type II receptor for bone morphogenetic protein-4 that forms differential heteromeric complexes with bone morphogenetic protein type I receptors.

PubMed ID: 7673243

DOI: 10.1074/jbc.270.38.22522

PubMed ID: 7890683

Title: Cloning of a novel type II serine/threonine kinase receptor through interaction with the type I transforming growth factor-beta receptor.

PubMed ID: 7890683

DOI: 10.1074/jbc.270.10.5625

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 18691976

Title: Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.

PubMed ID: 18691976

DOI: 10.1016/j.molcel.2008.07.007

PubMed ID: 19369195

Title: Large-scale proteomics analysis of the human kinome.

PubMed ID: 19369195

DOI: 10.1074/mcp.m800588-mcp200

PubMed ID: 21791611

Title: TSC-22 promotes transforming growth factor beta-mediated cardiac myofibroblast differentiation by antagonizing Smad7 activity.

PubMed ID: 21791611

DOI: 10.1128/mcb.05448-11

PubMed ID: 21976273

Title: New insights into the molecular mechanism of multiple synostoses syndrome (SYNS): mutation within the GDF5 knuckle epitope causes noggin-resistance.

PubMed ID: 21976273

DOI: 10.1002/jbmr.532

PubMed ID: 29212066

Title: Fstl1 Promotes Glioma Growth Through the BMP4/Smad1/5/8 Signaling Pathway.

PubMed ID: 29212066

DOI: 10.1159/000485759

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 33308444

Title: SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling.

PubMed ID: 33308444

DOI: 10.1016/j.ajhg.2020.11.015

PubMed ID: 17094948

Title: High resolution structures of the bone morphogenetic protein type II receptor in two crystal forms: implications for ligand binding.

PubMed ID: 17094948

DOI: 10.1016/j.bbrc.2006.10.109

PubMed ID: 10903931

Title: Familial primary pulmonary hypertension (gene PPH1) is caused by mutations in the bone morphogenetic protein receptor-II gene.

PubMed ID: 10903931

DOI: 10.1086/303059

PubMed ID: 11015450

Title: Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-beta family.

PubMed ID: 11015450

DOI: 10.1136/jmg.37.10.741

PubMed ID: 10973254

Title: Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension.

PubMed ID: 10973254

DOI: 10.1038/79226

PubMed ID: 11115378

Title: BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension.

PubMed ID: 11115378

DOI: 10.1086/316947

PubMed ID: 12358323

Title: BMPR2 germline mutations in pulmonary hypertension associated with fenfluramine derivatives.

PubMed ID: 12358323

DOI: 10.1183/09031936.02.01762002

PubMed ID: 12045205

Title: Functional analysis of bone morphogenetic protein type II receptor mutations underlying primary pulmonary hypertension.

PubMed ID: 12045205

DOI: 10.1093/hmg/11.13.1517

PubMed ID: 12446270

Title: Pulmonary veno-occlusive disease caused by an inherited mutation in bone morphogenetic protein receptor II.

PubMed ID: 12446270

DOI: 10.1164/rccm.200208-861oc

PubMed ID: 15965979

Title: BMPR2 mutations have short lifetime expectancy in primary pulmonary hypertension.

PubMed ID: 15965979

DOI: 10.1002/humu.20200

PubMed ID: 16429395

Title: Mutations of the TGF-beta type II receptor BMPR2 in pulmonary arterial hypertension.

PubMed ID: 16429395

DOI: 10.1002/humu.20285

PubMed ID: 17344846

Title: Patterns of somatic mutation in human cancer genomes.

PubMed ID: 17344846

DOI: 10.1038/nature05610

PubMed ID: 24936649

Title: Novel mutations in BMPR2, ACVRL1 and KCNA5 genes and hemodynamic parameters in patients with pulmonary arterial hypertension.

PubMed ID: 24936649

DOI: 10.1371/journal.pone.0100261

PubMed ID: 25187962

Title: Functional changes in pulmonary arterial endothelial cells associated with BMPR2 mutations.

PubMed ID: 25187962

DOI: 10.1371/journal.pone.0106703

PubMed ID: 28507310

Title: Molecular and functional characterization of the BMPR2 gene in Pulmonary Arterial Hypertension.

PubMed ID: 28507310

DOI: 10.1038/s41598-017-02074-8

Sequence Information:

  • Length: 1038
  • Mass: 115201
  • Checksum: 1389923CE574B913
  • Sequence:
    • MTSSLQRPWR VPWLPWTILL VSTAAASQNQ ERLCAFKDPY QQDLGIGESR ISHENGTILC 
SKGSTCYGLW EKSKGDINLV KQGCWSHIGD PQECHYEECV VTTTPPSIQN GTYRFCCCST 
DLCNVNFTEN FPPPDTTPLS PPHSFNRDET IIIALASVSV LAVLIVALCF GYRMLTGDRK 
QGLHSMNMME AAASEPSLDL DNLKLLELIG RGRYGAVYKG SLDERPVAVK VFSFANRQNF 
INEKNIYRVP LMEHDNIARF IVGDERVTAD GRMEYLLVME YYPNGSLCKY LSLHTSDWVS 
SCRLAHSVTR GLAYLHTELP RGDHYKPAIS HRDLNSRNVL VKNDGTCVIS DFGLSMRLTG 
NRLVRPGEED NAAISEVGTI RYMAPEVLEG AVNLRDCESA LKQVDMYALG LIYWEIFMRC 
TDLFPGESVP EYQMAFQTEV GNHPTFEDMQ VLVSREKQRP KFPEAWKENS LAVRSLKETI 
EDCWDQDAEA RLTAQCAEER MAELMMIWER NKSVSPTVNP MSTAMQNERN LSHNRRVPKI 
GPYPDYSSSS YIEDSIHHTD SIVKNISSEH SMSSTPLTIG EKNRNSINYE RQQAQARIPS 
PETSVTSLST NTTTTNTTGL TPSTGMTTIS EMPYPDETNL HTTNVAQSIG PTPVCLQLTE 
EDLETNKLDP KEVDKNLKES SDENLMEHSL KQFSGPDPLS STSSSLLYPL IKLAVEATGQ 
QDFTQTANGQ ACLIPDVLPT QIYPLPKQQN LPKRPTSLPL NTKNSTKEPR LKFGSKHKSN 
LKQVETGVAK MNTINAAEPH VVTVTMNGVA GRNHSVNSHA ATTQYANGTV LSGQTTNIVT 
HRAQEMLQNQ FIGEDTRLNI NSSPDEHEPL LRREQQAGHD EGVLDRLVDR RERPLEGGRT 
NSNNNNSNPC SEQDVLAQGV PSTAADPGPS KPRRAQRPNS LDLSATNVLD GSSIQIGEST 
QDGKSGSGEK IKKRVKTPYS LKRWRPSTWV ISTESLDCEV NNNGSNRAVH SKSSTAVYLA 
EGGTATTMVS KDIGMNCL

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.