Details for: BMPR2

Gene ID: 659

Symbol: BMPR2

Ensembl ID: ENSG00000204217

Description: bone morphogenetic protein receptor type 2

Associated with

Other Information

Genular Protein ID: 2996767760

Symbol: BMPR2_HUMAN

Name: Bone morphogenetic protein receptor type-2

UniProtKB Accession Codes:

Database IDs:

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.