Details for: BMPR2

Gene ID: 659

Symbol: BMPR2

Ensembl ID: ENSG00000204217

Description: bone morphogenetic protein receptor type 2

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 694.3318
    Cell Significance Index: -108.0000
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 424.7696
    Cell Significance Index: -107.7400
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 226.8902
    Cell Significance Index: -107.1200
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 209.7932
    Cell Significance Index: -85.2300
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 89.3225
    Cell Significance Index: -85.2800
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 88.0324
    Cell Significance Index: -108.5400
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 37.0568
    Cell Significance Index: -99.2700
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 34.9038
    Cell Significance Index: -76.3900
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 27.5161
    Cell Significance Index: -108.5800
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 26.7561
    Cell Significance Index: -82.1800
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 6.2670
    Cell Significance Index: 90.1400
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 4.3369
    Cell Significance Index: 225.9100
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 3.3431
    Cell Significance Index: 187.6000
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 2.8554
    Cell Significance Index: 572.8000
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 2.7380
    Cell Significance Index: 168.2900
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 2.6924
    Cell Significance Index: 965.7300
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 2.5525
    Cell Significance Index: 65.6100
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 2.3910
    Cell Significance Index: 474.5000
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 2.3634
    Cell Significance Index: 181.3600
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 1.8174
    Cell Significance Index: 43.5900
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 1.7935
    Cell Significance Index: 1240.4200
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 1.5602
    Cell Significance Index: 30.4500
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 1.2235
    Cell Significance Index: 82.2700
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 1.1125
    Cell Significance Index: 49.2100
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 1.0227
    Cell Significance Index: 125.7600
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.9855
    Cell Significance Index: 177.6600
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.8688
    Cell Significance Index: 32.9000
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.7229
    Cell Significance Index: 652.7100
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.6342
    Cell Significance Index: 68.9900
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.4151
    Cell Significance Index: 183.5400
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.3478
    Cell Significance Index: 654.8500
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.3149
    Cell Significance Index: 8.8000
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.2511
    Cell Significance Index: 137.1300
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.2314
    Cell Significance Index: 5.7900
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.2304
    Cell Significance Index: 104.5900
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.2066
    Cell Significance Index: 318.0300
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 0.1829
    Cell Significance Index: 5.2200
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.1634
    Cell Significance Index: 2.8000
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.1563
    Cell Significance Index: 288.3100
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.1540
    Cell Significance Index: 97.8200
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.1310
    Cell Significance Index: 178.0800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.1137
    Cell Significance Index: 15.6100
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.0654
    Cell Significance Index: 10.6400
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: 0.0430
    Cell Significance Index: 0.2600
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.0347
    Cell Significance Index: 6.6100
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.0307
    Cell Significance Index: 3.0400
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0301
    Cell Significance Index: -3.8600
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.0485
    Cell Significance Index: -1.0500
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0642
    Cell Significance Index: -47.5600
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0724
    Cell Significance Index: -45.2100
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0956
    Cell Significance Index: -70.1300
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.1235
    Cell Significance Index: -5.6000
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.1330
    Cell Significance Index: -3.5500
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.1439
    Cell Significance Index: -108.9100
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.1467
    Cell Significance Index: -82.7200
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.1815
    Cell Significance Index: -5.2300
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.2467
    Cell Significance Index: -42.1300
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.3284
    Cell Significance Index: -94.4800
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.3365
    Cell Significance Index: -48.9200
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.3728
    Cell Significance Index: -78.5300
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.3960
    Cell Significance Index: -8.4700
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.5060
    Cell Significance Index: -11.0800
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.5356
    Cell Significance Index: -54.7200
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.5412
    Cell Significance Index: -63.0700
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.6194
    Cell Significance Index: -43.8100
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.6265
    Cell Significance Index: -29.2100
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.6536
    Cell Significance Index: -84.4400
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: -0.6614
    Cell Significance Index: -45.7400
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.6646
    Cell Significance Index: -69.2000
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.6668
    Cell Significance Index: -23.4300
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.7282
    Cell Significance Index: -45.9000
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.8154
    Cell Significance Index: -93.4200
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.8155
    Cell Significance Index: -96.1700
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.8430
    Cell Significance Index: -96.2300
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.9774
    Cell Significance Index: -26.1900
  • Cell Name: helper T cell (CL0000912)
    Fold Change: -0.9881
    Cell Significance Index: -14.0400
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -1.1036
    Cell Significance Index: -82.2500
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -1.1173
    Cell Significance Index: -58.0400
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -1.1606
    Cell Significance Index: -91.9200
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -1.1660
    Cell Significance Index: -54.8000
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -1.3493
    Cell Significance Index: -82.7300
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -1.3952
    Cell Significance Index: -15.8500
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -1.4732
    Cell Significance Index: -21.7500
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -1.4883
    Cell Significance Index: -96.0200
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: -1.5278
    Cell Significance Index: -21.9400
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -1.5883
    Cell Significance Index: -83.3900
  • Cell Name: midget ganglion cell of retina (CL4023188)
    Fold Change: -1.7760
    Cell Significance Index: -18.5000
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -1.8194
    Cell Significance Index: -30.4500
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -1.8222
    Cell Significance Index: -59.6600
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -1.8993
    Cell Significance Index: -60.4900
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -1.9192
    Cell Significance Index: -50.4700
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -1.9943
    Cell Significance Index: -69.3000
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -2.1484
    Cell Significance Index: -26.7900
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -2.1509
    Cell Significance Index: -42.5300
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -2.2225
    Cell Significance Index: -47.1700
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -2.2225
    Cell Significance Index: -47.3300
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -2.2610
    Cell Significance Index: -72.4200
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -2.3424
    Cell Significance Index: -25.5200
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -2.3667
    Cell Significance Index: -64.4200
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -2.3895
    Cell Significance Index: -83.7100

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** BMPR2 is a transmembrane receptor serine/threonine kinase, consisting of an extracellular ligand-binding domain, a transmembrane domain, and an intracellular tyrosine kinase domain. The receptor is characterized by its high degree of homology with other TGF-β receptors, but possesses distinct differences in its extracellular and intracellular domains. BMPR2 is a ligand-independent kinase, meaning it can phosphorylate and activate Smad proteins without the presence of its ligand, BMPs. **Pathways and Functions** BMPR2 signaling pathways are crucial for the regulation of various cellular processes, including: 1. **Cell growth and differentiation**: BMPR2 signaling regulates the proliferation and differentiation of cells in various tissues, including the cardiovascular system, lung, and bone. 2. **Cell migration and adhesion**: BMPR2 signaling influences cell migration and adhesion, which are essential for tissue development and repair. 3. **Angiogenesis**: BMPR2 signaling promotes angiogenesis, the formation of new blood vessels, which is critical for tissue growth and development. 4. **Apoptosis**: BMPR2 signaling regulates apoptosis, or programmed cell death, which is essential for maintaining tissue homeostasis. 5. **Inflammation**: BMPR2 signaling modulates inflammatory responses, which are critical for protecting against tissue damage. **Clinical Significance** Mutations in the BMPR2 gene have been identified as a primary cause of: 1. **Pulmonary Arterial Hypertension (PAH)**: A severe and life-threatening disease characterized by high blood pressure in the arteries that supply blood to the lungs. 2. **Idiopathic Pulmonary Arterial Hypertension (IPAH)**: A subtype of PAH with no identifiable underlying cause. 3. **Heritable PAH**: A subtype of PAH caused by genetic mutations in the BMPR2 gene or other genes involved in TGF-β signaling. In addition to its role in PAH, BMPR2 signaling has been implicated in other diseases, including: 1. **Cardiovascular disease**: BMPR2 signaling regulates cardiovascular development and function, and mutations in the BMPR2 gene have been associated with cardiovascular disease. 2. **Osteoporosis**: BMPR2 signaling regulates bone metabolism, and mutations in the BMPR2 gene have been associated with osteoporosis. 3. **Fibrosis**: BMPR2 signaling regulates fibrosis, or excessive scarring, which is a hallmark of various diseases, including PAH and cardiovascular disease. In conclusion, BMPR2 is a critical receptor in the TGF-β superfamily, playing a pivotal role in various cellular processes, including cell growth, differentiation, and development. Mutations in the BMPR2 gene have been identified as a primary cause of PAH, and the receptor's signaling pathways have been implicated in other diseases, including cardiovascular disease, osteoporosis, and fibrosis.

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 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 74 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 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 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 3 OrthoDB 1 PANTHER 2 PDB 7 PDBsum 7 PIR 1 PRO 1 PROSITE 2 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 SIGNOR 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 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. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.