BMPR2 (bone morphogenetic protein receptor type 2) - Rat Genome Database

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Gene: BMPR2 (bone morphogenetic protein receptor type 2) Homo sapiens
Analyze
Symbol: BMPR2
Name: bone morphogenetic protein receptor type 2
RGD ID: 735373
HGNC Page HGNC:1078
Description: Enables several functions, including BMP binding activity; activin receptor activity, type II; and protein tyrosine kinase binding activity. Involved in several processes, including BMP signaling pathway; negative regulation of cell population proliferation; and regulation of blood pressure. Located in adherens junction; caveola; and nucleoplasm. Implicated in heart septal defect; primary pulmonary hypertension; pulmonary hypertension; and pulmonary venoocclusive disease 1. Biomarker of asthma and pulmonary hypertension.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: BMP type II receptor; BMP type-2 receptor; BMPR-2; BMPR-II; BMPR3; BMR2; bone morphogenetic protein receptor type II; bone morphogenetic protein receptor type-2; bone morphogenetic protein receptor, type II (serine/threonine kinase); bone morphogenic protein receptor, type ii (serine/threonine kinase); BRK-3; FLJ41585; FLJ76945; POVD1; PPH1; primary pulmonary hypertension 1; T-ALK; type II activin receptor-like kinase; type II receptor for bone morphogenetic protein-4
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382202,376,327 - 202,567,749 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2202,376,327 - 202,567,751 (+)EnsemblGRCh38hg38GRCh38
GRCh372203,241,050 - 203,432,472 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362202,949,916 - 203,140,719 (+)NCBINCBI36Build 36hg18NCBI36
Build 342203,067,104 - 203,257,979NCBI
Celera2196,992,827 - 197,184,404 (+)NCBICelera
Cytogenetic Map2q33.1-q33.2NCBI
HuRef2195,088,272 - 195,279,312 (+)NCBIHuRef
CHM1_12203,247,530 - 203,439,226 (+)NCBICHM1_1
T2T-CHM13v2.02202,857,368 - 203,049,014 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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Original Reference(s)
BMPR2Humanasthma  IEP 5129470protein:decreased expression:bronchusRGD 
BMPR2HumanBrain Injuries  ISOBmpr2 (Rattus norvegicus)5129488mRNA:increased expression:dentate gyrus and neuronRGD 
BMPR2HumanExperimental Diabetes Mellitus  ISOBmpr2 (Rattus norvegicus)5135278protein:increased expression:lungRGD 
BMPR2HumanFemoral Fractures  ISOBmpr2 (Rattus norvegicus)2289041 RGD 
BMPR2Humanheart septal defect  IAGP 5129230 RGD 
BMPR2Humanperipheral vascular disease  ISOBmpr2 (Mus musculus)5129473 RGD 
BMPR2HumanPulmonary Arterial Hypertension treatmentISOBmpr2 (Mus musculus)329848996 RGD 
BMPR2Humanpulmonary hypertension  IAGP 5129238DNA:mutations: :multiple (human)RGD 
BMPR2Humanpulmonary hypertension  ISOBmpr2 (Rattus norvegicus)14975304induced by human ad-ALOX5RGD 
BMPR2Humanpulmonary hypertension  ISOBmpr2 (Rattus norvegicus)38500244protein:decreased expression:lungRGD 
BMPR2Humanpulmonary hypertension treatmentIDA 38500243 RGD 
BMPR2Humanpulmonary hypertension  IAGP 1580076 RGD 
BMPR2Humanpulmonary hypertension  ISOBmpr2 (Mus musculus)5129474 RGD 
BMPR2Humanpulmonary hypertension disease_progressionIAGP 5129239DNA:missense mutations (human)RGD 
BMPR2Humanpulmonary hypertension  IAGP 5129237DNA:mutations: :multiple (human)RGD 
BMPR2Humanpulmonary hypertension  IEP 5129472 RGD 
BMPR2HumanReperfusion Injury  ISOBmpr2 (Rattus norvegicus)5129486mRNA:increased expression:dentate gyrus and granule cellRGD 
BMPR2HumanVascular Remodeling  ISOBmpr2 (Rattus norvegicus)38500244 RGD 
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BMPR2Humanautoimmune lymphoproliferative syndrome type 2B  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2BClinVarPMID:28492532
BMPR2Humanautoimmune lymphoproliferative syndrome type 2B  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2BClinVarPMID:11343122 more ...
BMPR2HumanAutoimmune Lymphoproliferative Syndrome, Type V  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type VClinVarPMID:11343122 more ...
BMPR2Humancommon variable immunodeficiency 1  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Immunodeficiency more ...ClinVarPMID:28492532
BMPR2Humancommon variable immunodeficiency 1  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Immunodeficiency more ...ClinVarPMID:11343122 more ...
BMPR2HumanDevelopmental Disease  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Developmental disorderClinVarPMID:25741868
BMPR2Humanepilepsy  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: SeizureClinVarPMID:12358323 more ...
BMPR2Humanfibrodysplasia ossificans progressiva  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Progressive myositis ossificansClinVar 
BMPR2Humangenetic disease  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:24033266 more ...
BMPR2Humangenetic disease  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:25741868 and PMID:28391780
BMPR2Humangenetic disease  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:15146475 more ...
BMPR2Humangenetic disease  IAGP (Homo sapiens) more ...8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:25741868 and PMID:28492532
BMPR2Humangenetic disease  IAGP (Homo sapiens) more ...8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVar 
BMPR2Humangenetic disease  IAGP (Homo sapiens) more ...8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVar 
BMPR2Humangenetic disease  IAGP (Homo sapiens) more ...8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:28492532
BMPR2Humangenetic disease  IAGP (Homo sapiens) more ...8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:25741868
BMPR2Humangenetic disease  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:24936649 more ...
BMPR2Humanhereditary breast ovarian cancer syndrome  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndromeClinVarPMID:19555857 more ...
BMPR2Humanhereditary breast ovarian cancer syndrome  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failureClinVarPMID:28492532 and PMID:32368696
BMPR2Humanhereditary breast ovarian cancer syndrome  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failureClinVarPMID:28492532
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BMPR2HumanBreast Neoplasms  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:23180569
BMPR2Humanhyperandrogenism  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:22825968
BMPR2Humanprimary pulmonary hypertension  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:25460361
BMPR2HumanPulmonary Arterial Hypertension  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:28415675
BMPR2Humanpulmonary hypertension  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:11590841 more ...
BMPR2Humanpulmonary venoocclusive disease  EXP 11554173CTD Direct Evidence: marker/mechanismCTD 
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BMPR2Humanprimary pulmonary hypertension  ISSBmpr2 (Mus musculus)13592920OMIM:178600 more ...MouseDO 
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BMPR2Humanprimary pulmonary hypertension 1  IAGP 7240710 OMIM 
BMPR2Humanpulmonary venoocclusive disease 1  IAGP 7240710 OMIM 

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BMPR2Human1,2-dimethylhydrazine decreases expressionISOBmpr2 (Mus musculus)64804641 and 2-Dimethylhydrazine results in decreased expression of BMPR2 mRNACTDPMID:22206623
BMPR2Human17alpha-ethynylestradiol increases expressionISOBmpr2 (Rattus norvegicus)6480464Ethinyl Estradiol results in increased expression of BMPR2 mRNACTDPMID:29097150
BMPR2Human17beta-estradiol decreases expressionISOBmpr2 (Rattus norvegicus)6480464Estradiol results in decreased expression of BMPR2 mRNACTDPMID:20068009 and PMID:32145629
BMPR2Human17beta-estradiol multiple interactionsEXP 6480464[Estradiol co-treated with TGFB1 protein] results in increased expression of BMPR2 mRNACTDPMID:30165855
BMPR2Human17beta-estradiol multiple interactionsISOBmpr2 (Mus musculus)6480464BMPR2 protein modified form inhibits the reaction [KITLG protein inhibits the reaction [FSHB protein results in increased abundance of Estradiol]] more ...CTDPMID:22366471
BMPR2Human2,3,7,8-tetrachlorodibenzodioxine increases expressionEXP 6480464Tetrachlorodibenzodioxin results in increased expression of BMPR2 mRNACTDPMID:12377990
BMPR2Human2,3,7,8-tetrachlorodibenzodioxine increases expressionISOBmpr2 (Rattus norvegicus)6480464Tetrachlorodibenzodioxin results in increased expression of BMPR2 mRNACTDPMID:32109520 and PMID:34747641
BMPR2Human2,3,7,8-tetrachlorodibenzodioxine decreases expressionISOBmpr2 (Rattus norvegicus)6480464Tetrachlorodibenzodioxin results in decreased expression of BMPR2 mRNACTDPMID:30172648 and PMID:33387578
BMPR2Human2,3,7,8-tetrachlorodibenzodioxine multiple interactionsEXP 6480464[Tetrachlorodibenzodioxin co-treated with 2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide] results in increased expression of BMPR2 mRNACTDPMID:29704546
BMPR2Human2,3,7,8-tetrachlorodibenzodioxine affects expressionISOBmpr2 (Mus musculus)6480464Tetrachlorodibenzodioxin affects the expression of BMPR2 mRNACTDPMID:21570461
BMPR2Human2,3,7,8-tetrachlorodibenzodioxine increases expressionISOBmpr2 (Mus musculus)6480464Tetrachlorodibenzodioxin results in increased expression of BMPR2 mRNACTDPMID:21354282
BMPR2Human2,3,7,8-Tetrachlorodibenzofuran decreases expressionISOBmpr2 (Rattus norvegicus)64804642 more ...CTDPMID:32109520
BMPR2Human2-methylcholine affects expressionEXP 6480464beta-methylcholine affects the expression of BMPR2 mRNACTDPMID:21179406
BMPR2Human3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine multiple interactionsISOBmpr2 (Rattus norvegicus)6480464Drugs more ...CTDPMID:17803470
BMPR2Human3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine increases expressionISOBmpr2 (Rattus norvegicus)6480464Puromycin Aminonucleoside results in increased expression of BMPR2 mRNACTDPMID:17803470
BMPR2Human3,4-methylenedioxymethamphetamine decreases expressionISOBmpr2 (Mus musculus)6480464N-Methyl-3 and 4-methylenedioxyamphetamine results in decreased expression of BMPR2 mRNACTDPMID:26251327
BMPR2Human3,4-methylenedioxymethamphetamine decreases expressionISOBmpr2 (Rattus norvegicus)6480464N-Methyl-3 and 4-methylenedioxyamphetamine results in decreased expression of BMPR2 mRNACTDPMID:30071829
BMPR2Human4,4'-diaminodiphenylmethane increases expressionISOBmpr2 (Mus musculus)64804644 and 4'-diaminodiphenylmethane results in increased expression of BMPR2 mRNACTDPMID:18648102
BMPR2Human4,4'-sulfonyldiphenol decreases expressionISOBmpr2 (Mus musculus)6480464bisphenol S results in decreased expression of BMPR2 mRNACTDPMID:39298647
BMPR2Humanaflatoxin B1 affects methylationEXP 6480464Aflatoxin B1 affects the methylation of BMPR2 intronCTDPMID:30157460

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Biological Process
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Original Reference(s)
BMPR2Humanactivin receptor signaling pathway involved_inIEAGO:0016362150520179 GOCGO_REF:0000108
BMPR2Humananterior/posterior pattern specification involved_inISSUniProtKB:O35607150520179 BHF-UCLGO_REF:0000024
BMPR2Humananterior/posterior pattern specification acts_upstream_of_or_withinIEAUniProtKB:O35607 and ensembl:ENSMUSP00000084701150520179 EnsemblGO_REF:0000107
BMPR2Humanaortic valve development involved_inIEAUniProtKB:O35607 and ensembl:ENSMUSP00000084701150520179 EnsemblGO_REF:0000107
BMPR2Humanaortic valve development involved_inISSUniProtKB:O35607150520179 BHF-UCLGO_REF:0000024
BMPR2Humanartery development involved_inIEAUniProtKB:O35607 and ensembl:ENSMUSP00000084701150520179 EnsemblGO_REF:0000107
BMPR2Humanartery development involved_inISSUniProtKB:O35607150520179 BHF-UCLGO_REF:0000024
BMPR2Humanatrial septum morphogenesis involved_inISSUniProtKB:O35607150520179 BHF-UCLGO_REF:0000024
BMPR2Humanatrial septum morphogenesis involved_inIEAUniProtKB:O35607 and ensembl:ENSMUSP00000084701150520179 EnsemblGO_REF:0000107
BMPR2Humanatrioventricular valve morphogenesis NOT|involved_inISSUniProtKB:O35607150520179 BHF-UCLGO_REF:0000024
BMPR2Humanblood vessel development involved_inIBAMGI:1095407 more ...150520179 GO_CentralGO_REF:0000033
BMPR2Humanblood vessel remodeling involved_inISSUniProtKB:O35607150520179 BHF-UCLGO_REF:0000024
BMPR2Humanblood vessel remodeling involved_inIEAUniProtKB:O35607 and ensembl:ENSMUSP00000084701150520179 EnsemblGO_REF:0000107
BMPR2HumanBMP signaling pathway involved_inIGIUniProtKB:P12643150520179 PMID:18382765BHF-UCLPMID:18382765
BMPR2HumanBMP signaling pathway acts_upstream_of_or_withinISOBmpr2 (Mus musculus)9068941 PMID:17472960MGIPMID:17472960
BMPR2HumanBMP signaling pathway involved_inIBAFB:FBgn0024179 more ...150520179 GO_CentralGO_REF:0000033
BMPR2HumanBMP signaling pathway involved_inIMP 150520179 PMID:12045205 more ...BHF-UCLPMID:12045205 more ...
BMPR2HumanBMP signaling pathway involved_inIEAUniProtKB:O35607 and ensembl:ENSMUSP00000084701150520179 EnsemblGO_REF:0000107
BMPR2HumanBMP signaling pathway involved_inIDA 150520179 PMID:18436533BHF-UCLPMID:18436533
BMPR2HumanBMP signaling pathway involved_inISSUniProtKB:O35607150520179 BHF-UCLGO_REF:0000024
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Cellular Component
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Original Reference(s)
BMPR2Humanadherens junction located_inIDA 150520179 PMID:25468996BHF-UCLPMID:25468996
BMPR2Humanapical plasma membrane  ISOBmpr2 (Rattus norvegicus)9068941 RGDPMID:16271518 and REF_RGD_ID:5129481
BMPR2Humanapical plasma membrane located_inIEAUniProtKB:F1LQC5 and ensembl:ENSRNOP00000037011150520179 EnsemblGO_REF:0000107
BMPR2Humanaxon is_active_inIEAUniProtKB:O35607 and ensembl:ENSMUSP00000084701150520179 EnsemblGO_REF:0000107
BMPR2Humanbasal plasma membrane  ISOBmpr2 (Rattus norvegicus)9068941 RGDPMID:16271518 and REF_RGD_ID:5129481
BMPR2Humanbasal plasma membrane located_inIEAUniProtKB:F1LQC5 and ensembl:ENSRNOP00000037011150520179 EnsemblGO_REF:0000107
BMPR2Humancaveola  ISOBmpr2 (Rattus norvegicus)9068941 RGDPMID:16271518 and REF_RGD_ID:5129481
BMPR2Humancaveola located_inIEAUniProtKB:F1LQC5 and ensembl:ENSRNOP00000037011150520179 EnsemblGO_REF:0000107
BMPR2Humancaveola located_inIMP 150520179 PMID:15657086BHF-UCLPMID:15657086
BMPR2Humancell body is_active_inIEAUniProtKB:O35607 and ensembl:ENSMUSP00000084701150520179 EnsemblGO_REF:0000107
BMPR2Humancell surface located_inIEAUniProtKB:O35607 and ensembl:ENSMUSP00000084701150520179 EnsemblGO_REF:0000107
BMPR2Humanclathrin-coated pit is_active_inIEAUniProtKB:O35607 and ensembl:ENSMUSP00000084701150520179 EnsemblGO_REF:0000107
BMPR2Humandendrite  ISOBmpr2 (Rattus norvegicus)9068941 RGDPMID:21185359 and REF_RGD_ID:5129479
BMPR2Humandendrite located_inIEAUniProtKB:F1LQC5 and ensembl:ENSRNOP00000037011150520179 EnsemblGO_REF:0000107
BMPR2Humandendrite is_active_inIEAUniProtKB:O35607 and ensembl:ENSMUSP00000084701150520179 EnsemblGO_REF:0000107
BMPR2Humanextracellular space located_inHDA 150520179 PMID:22664934UniProtPMID:22664934
BMPR2Humanmembrane located_inIEAUniProtKB-SubCell:SL-0162150520179 UniProtGO_REF:0000044
BMPR2Humanmembrane located_inIEAInterPro:IPR000333 and InterPro:IPR000472150520179 InterProGO_REF:0000002
BMPR2Humanmembrane located_inIEAUniProtKB-KW:KW-0472150520179 UniProtGO_REF:0000043
BMPR2Humanneuronal cell body  ISOBmpr2 (Rattus norvegicus)9068941 RGDPMID:21185359 and REF_RGD_ID:5129479
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Molecular Function
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BMPR2Humanactivin receptor activity, type II enablesTAS 150520179 ReactomeReactome:R-HSA-201443
BMPR2Humanactivin receptor activity, type II enablesIDA 150520179 PMID:19366699UniProtPMID:19366699
BMPR2HumanATP binding enablesIEAUniRule:UR001503341150520179 UniProtGO_REF:0000104
BMPR2HumanATP binding enablesIEAInterPro:IPR000333 more ...150520179 InterProGO_REF:0000002
BMPR2HumanATP binding enablesIEAUniProtKB-KW:KW-0067150520179 UniProtGO_REF:0000043
BMPR2HumanBMP binding enablesIEAUniProtKB:O35607 and ensembl:ENSMUSP00000084701150520179 EnsemblGO_REF:0000107
BMPR2HumanBMP binding enablesIPIUniProtKB:O00238 and UniProtKB:P36894150520179 PMID:21976273UniProtPMID:21976273
BMPR2HumanBMP receptor activity enablesIEAUniProtKB:O35607 and ensembl:ENSMUSP00000084701150520179 EnsemblGO_REF:0000107
BMPR2HumanBMP receptor activity enablesISSUniProtKB:O35607150520179 UniProtGO_REF:0000024
BMPR2Humancadherin binding enablesIPIUniProtKB:P33151150520179 PMID:26598555ARUK-UCLPMID:26598555
BMPR2Humangrowth factor binding  ISOBmpr2 (Rattus norvegicus)9068941 RGDPMID:11044210 and REF_RGD_ID:5129485
BMPR2Humangrowth factor binding enablesIEAUniProtKB:F1LQC5 and ensembl:ENSRNOP00000037011150520179 EnsemblGO_REF:0000107
BMPR2Humankinase activity enablesIEAUniProtKB-KW:KW-0418150520179 UniProtGO_REF:0000043
BMPR2Humanmetal ion binding enablesIEAUniProtKB-KW:KW-0479150520179 UniProtGO_REF:0000043
BMPR2Humannucleotide binding enablesIEAUniRule:UR001503341150520179 UniProtGO_REF:0000104
BMPR2Humannucleotide binding enablesIEAUniProtKB-KW:KW-0547150520179 UniProtGO_REF:0000043
BMPR2Humanprotein binding enablesIPIUniProtKB:Q15714150520179 PMID:21791611UniProtPMID:21791611
BMPR2Humanprotein binding enablesIPIUniProtKB:P62258150520179 PMID:36931259IntActPMID:36931259
BMPR2Humanprotein binding enablesIPIUniProtKB:P12644150520179 PMID:12045205BHF-UCLPMID:12045205
BMPR2Humanprotein binding enablesIPIUniProtKB:P43026 and UniProtKB:Q13253150520179 PMID:21976273UniProtPMID:21976273
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RGD Manual Annotations


  
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BMPR2HumanBone morphogenetic proteins signaling pathway  ISOBmpr2 (Rattus norvegicus)1580077 RGD 

Imported Annotations - KEGG (archival)

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BMPR2Humantransforming growth factor-beta superfamily mediated signaling pathway  IEA 6907045 KEGGhsa:04350

Imported Annotations - PID (archival)

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BMPR2HumanBone morphogenetic proteins signaling pathway  EXP 6484113 PIDPID:200144
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BMPR2HumanAbnormal thrombosis  IAGP 8699517 HPOMIM:178600
BMPR2HumanAbnormally loud pulmonic component of the second heart sound  IAGP 8699517 HPOMIM:265450
BMPR2HumanArterial intimal fibrosis  IAGP 8699517 HPOMIM:178600
BMPR2HumanAutosomal dominant inheritance  IAGP 8699517 HPOMIM:178600
BMPR2HumanAutosomal dominant inheritance  IAGP 8699517 HPOMIM:265450
BMPR2HumanCentrilobular ground-glass opacification on pulmonary HRCT  IAGP 8699517 HPOMIM:265450
BMPR2HumanCough  IAGP 8699517 HPOMIM:178600
BMPR2HumanDyspnea  IAGP 8699517 HPOMIM:178600
BMPR2HumanElevated jugular venous pressure  IAGP 8699517 HPOMIM:265450
BMPR2HumanElevated right atrial pressure  IAGP 8699517 HPOMIM:178600
BMPR2HumanHypertension  IAGP 8699517 HPOMIM:178600
BMPR2HumanIncreased pulmonary vascular resistance  IAGP 8699517 HPOMIM:178600
BMPR2HumanInterlobular septal thickening  IAGP 8699517 HPOMIM:265450
BMPR2HumanMiddle age onset  IAGP 8699517 HPOMIM:178600
BMPR2HumanPulmonary arterial hypertension  IAGP 8699517 HPOMIM:265450
BMPR2HumanPulmonary arterial hypertension  IAGP 8699517 HPOMIM:178600
BMPR2HumanPulmonary arterial medial hypertrophy  IAGP 8699517 HPOMIM:178600
BMPR2HumanPulmonary artery vasoconstriction  IAGP 8699517 HPOMIM:178600
BMPR2HumanPulmonary aterial intimal fibrosis  IAGP 8699517 HPOMIM:178600
BMPR2HumanPulmonary venous occlusion  IAGP 8699517 HPOMIM:265450
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Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
BMPR2HumanAbnormal basal ganglia morphology  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Abnormal basal ganglia morphologyClinVarPMID:12358323 more ...
BMPR2HumanAbnormal basal ganglia MRI signal intensity  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Abnormal basal ganglia MRI signal intensityClinVarPMID:12358323 more ...
BMPR2HumanCafe-au-lait spot  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Cafe-au-lait spotClinVarPMID:12358323 more ...
BMPR2HumanCognitive impairment  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Cognitive impairmentClinVarPMID:12358323 more ...
BMPR2HumanElevated right atrial pressure  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Elevated right atrial pressureClinVarPMID:25741868 and PMID:28492532
BMPR2HumanFrontal bossing  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Frontal bossingClinVarPMID:12358323 more ...
BMPR2HumanHigh forehead  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: High foreheadClinVarPMID:12358323 more ...
BMPR2HumanIncreased pulmonary vascular resistance  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Increased pulmonary vascular resistanceClinVarPMID:25741868 and PMID:28492532
BMPR2HumanMicrognathia  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: MicrognathiaClinVarPMID:12358323 more ...
BMPR2HumanMitral valve prolapse  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Mitral valve prolapseClinVarPMID:25741868 and PMID:28492532
BMPR2HumanPulmonary arterial hypertension  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Primary pulmonary hypertensionClinVarPMID:28492532
BMPR2HumanPulmonary arterial hypertension  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Primary pulmonary hypertensionClinVarPMID:25741868 and PMID:28492532
BMPR2HumanPulmonary arterial hypertension  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Pulmonary arterial hypertensionClinVarPMID:25741868 and PMID:28492532
BMPR2HumanPulmonary arterial hypertension  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Primary pulmonary hypertensionClinVarPMID:25741868 and PMID:28492532
BMPR2HumanPulmonary arterial hypertension  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Pulmonary arterial hypertensionClinVarPMID:15358693
BMPR2HumanPulmonary arterial hypertension  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Primary pulmonary hypertensionClinVarPMID:25741868 and PMID:28492532
BMPR2HumanPulmonary arterial hypertension  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Pulmonary arterial hypertensionClinVarPMID:16429395 more ...
BMPR2HumanPulmonary arterial hypertension  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Pulmonary arterial hypertensionClinVarPMID:25741868 and PMID:31727138
BMPR2HumanPulmonary arterial hypertension  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Pulmonary arterial hypertensionClinVarPMID:31727138
BMPR2HumanPulmonary arterial hypertension  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Primary pulmonary hypertensionClinVarPMID:25741868 and PMID:28492532
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1 to 20 of 25 rows
#
Reference Title
Reference Citation
1. Truncating and missense BMPR2 mutations differentially affect the severity of heritable pulmonary arterial hypertension. Austin ED, etal., Respir Res. 2009 Sep 28;10:87.
2. Distribution of bone morphogenetic protein and bone morphogenetic protein receptor transcripts in the rodent nervous system and up-regulation of bone morphogenetic protein receptor type II in hippocampal dentate gyrus in a rat model of global cerebral ischemia. Charytoniuk DA, etal., Neuroscience. 2000;100(1):33-43.
3. Gross BMPR2 gene rearrangements constitute a new cause for primary pulmonary hypertension. Cogan JD, etal., Genet Med. 2005 Mar;7(3):169-74.
4. Bone morphogenetic protein signalling in heritable versus idiopathic pulmonary hypertension. Dewachter L, etal., Eur Respir J. 2009 Nov;34(5):1100-10. Epub 2009 Mar 26.
5. Absence of influence of gender and BMPR2 mutation type on clinical phenotypes of pulmonary arterial hypertension. Girerd B, etal., Respir Res. 2010 Jun 10;11:73.
6. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
7. Genetic ablation of the BMPR2 gene in pulmonary endothelium is sufficient to predispose to pulmonary arterial hypertension. Hong KH, etal., Circulation. 2008 Aug 12;118(7):722-30. Epub 2008 Jul 28.
8. Basal expression of bone morphogenetic protein receptor is reduced in mild asthma. Kariyawasam HH, etal., Am J Respir Crit Care Med. 2008 May 15;177(10):1074-81. Epub 2008 Feb 21.
9. Expression of serine/threonine kinase receptors in traumatic brain injury. Lewen A, etal., Neuroreport. 1997 Jan 20;8(2):475-9.
10. Type 1 Diabetes-Induced Hyper-Responsiveness to 5-Hydroxytryptamine in Rat Pulmonary Arteries via Oxidative Stress and Induction of Cyclooxygenase-2. Lopez-Lopez JG, etal., J Pharmacol Exp Ther. 2011 Jul;338(1):400-7. Epub 2011 Apr 26.
11. A novel BMPR2 gene mutation associated with exercise-induced pulmonary hypertension in septal defects. Moller T, etal., Scand Cardiovasc J. 2010 Dec;44(6):331-6. Epub 2010 Nov 11.
12. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
13. Distinct and overlapping patterns of localization of bone morphogenetic protein (BMP) family members and a BMP type II receptor during fracture healing in rats. Onishi T, etal., Bone. 1998 Jun;22(6):605-12.
14. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
15. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
16. Endothelial-to-mesenchymal transition in pulmonary hypertension. Ranchoux B, etal., Circulation. 2015 Mar 17;131(11):1006-18. doi: 10.1161/CIRCULATIONAHA.114.008750. Epub 2015 Jan 15.
17. Targeted gene delivery of BMPR2 attenuates pulmonary hypertension. Reynolds AM, etal., Eur Respir J. 2012 Feb;39(2):329-43. doi: 10.1183/09031936.00187310. Epub 2011 Jul 7.
18. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
19. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
20. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
1 to 20 of 25 rows
1 to 10 of 28 rows
PMID:7644468   PMID:7673243   PMID:7791754   PMID:7890683   PMID:8592941   PMID:8702914   PMID:8707881   PMID:9054941   PMID:9193425   PMID:9442116   PMID:9525338   PMID:10051328  
PMID:10504300   PMID:10712517   PMID:10880444   PMID:10903931   PMID:10964520   PMID:10973254   PMID:11015450   PMID:11115378   PMID:11401330   PMID:11484688   PMID:11502704   PMID:11686884  
PMID:11714695   PMID:12045205   PMID:12135884   PMID:12221115   PMID:12358323   PMID:12415595   PMID:12477932   PMID:12543773   PMID:12819188   PMID:12963706   PMID:14583445   PMID:14676131  
PMID:14702039   PMID:15031260   PMID:15055271   PMID:15146475   PMID:15188402   PMID:15235019   PMID:15295086   PMID:15354178   PMID:15358693   PMID:15489334   PMID:15492256   PMID:15516492  
PMID:15591269   PMID:15621726   PMID:15657086   PMID:15687131   PMID:15699281   PMID:15824058   PMID:15965979   PMID:16002577   PMID:16122479   PMID:16155937   PMID:16198295   PMID:16282533  
PMID:16339782   PMID:16339917   PMID:16344560   PMID:16429395   PMID:16429403   PMID:16436528   PMID:16615932   PMID:16717148   PMID:16782755   PMID:16982201   PMID:17102831   PMID:17203235  
PMID:17277049   PMID:17311849   PMID:17318011   PMID:17322283   PMID:17356069   PMID:17363346   PMID:17472960   PMID:17515463   PMID:17576816   PMID:17624341   PMID:17641158   PMID:17700526  
PMID:17992660   PMID:18159113   PMID:18187665   PMID:18221724   PMID:18321866   PMID:18326817   PMID:18342887   PMID:18356561   PMID:18364108   PMID:18382765   PMID:18436533   PMID:18436795  
PMID:18496036   PMID:18503968   PMID:18621057   PMID:18647753   PMID:18792970   PMID:19051722   PMID:19059957   PMID:19195606   PMID:19206171   PMID:19223935   PMID:19229295   PMID:19265191  
PMID:19307479   PMID:19357154   PMID:19366699   PMID:19390056   PMID:19424179   PMID:19453261   PMID:19531247   PMID:19552837   PMID:19578724   PMID:19628780   PMID:19634078   PMID:19782107  
1 to 10 of 28 rows



BMPR2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382202,376,327 - 202,567,749 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2202,376,327 - 202,567,751 (+)EnsemblGRCh38hg38GRCh38
GRCh372203,241,050 - 203,432,472 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362202,949,916 - 203,140,719 (+)NCBINCBI36Build 36hg18NCBI36
Build 342203,067,104 - 203,257,979NCBI
Celera2196,992,827 - 197,184,404 (+)NCBICelera
Cytogenetic Map2q33.1-q33.2NCBI
HuRef2195,088,272 - 195,279,312 (+)NCBIHuRef
CHM1_12203,247,530 - 203,439,226 (+)NCBICHM1_1
T2T-CHM13v2.02202,857,368 - 203,049,014 (+)NCBIT2T-CHM13v2.0
Bmpr2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39159,802,721 - 59,917,240 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl159,802,559 - 59,918,173 (+)EnsemblGRCm39 Ensembl
GRCm38159,764,279 - 59,878,081 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl159,763,400 - 59,879,014 (+)EnsemblGRCm38mm10GRCm38
MGSCv37159,821,481 - 59,927,703 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36159,709,183 - 59,815,405 (+)NCBIMGSCv36mm8
Celera160,279,442 - 60,385,822 (+)NCBICelera
Cytogenetic Map1C2NCBI
cM Map130.44NCBI
Bmpr2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8968,685,942 - 68,801,353 (+)NCBIGRCr8
mRatBN7.2961,192,718 - 61,307,280 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl961,190,566 - 61,301,809 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx969,692,580 - 69,800,850 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0974,808,556 - 74,916,402 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0973,126,851 - 73,235,117 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0966,568,074 - 66,683,019 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl966,568,074 - 66,676,494 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0966,371,542 - 66,486,121 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4958,327,587 - 58,436,057 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1958,524,438 - 58,554,549 (+)NCBI
Celera958,627,253 - 58,735,336 (+)NCBICelera
Cytogenetic Map9q31NCBI
Bmpr2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545712,235,780 - 12,316,727 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495545712,235,780 - 12,315,680 (-)NCBIChiLan1.0ChiLan1.0
BMPR2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v213105,000,755 - 105,192,826 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12B105,008,761 - 105,207,823 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02B89,631,622 - 89,823,438 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12B207,780,568 - 207,968,900 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B207,780,741 - 207,961,072 (+)Ensemblpanpan1.1panPan2
BMPR2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13711,342,292 - 11,540,199 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3711,342,384 - 11,533,024 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3712,225,170 - 12,423,716 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03711,278,198 - 11,476,750 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3711,278,288 - 11,476,741 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13711,228,404 - 11,433,107 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03711,207,452 - 11,404,742 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03711,200,863 - 11,398,681 (+)NCBIUU_Cfam_GSD_1.0
Bmpr2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303159,573,093 - 159,741,130 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049367261,543,245 - 1,704,541 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049367261,543,263 - 1,711,422 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
BMPR2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl15105,970,428 - 106,135,730 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.115105,971,577 - 106,132,496 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.215117,426,776 - 117,589,050 (+)NCBISscrofa10.2Sscrofa10.2susScr3
BMPR2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11088,103,442 - 88,302,578 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1088,106,072 - 88,303,734 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666040111,076,327 - 111,285,567 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Bmpr2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476513,857,062 - 13,947,683 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476513,849,689 - 13,950,839 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

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Variants in BMPR2
1164 total Variants

1 to 10 of 1392 rows
Name
Type
Condition(s)
Position(s)
Clinical significance
BMPR2, 1-BP DEL, 2579T deletion Primary pulmonary hypertension [RCV000009340] Chr2:2q33 pathogenic
BMPR2, 1-BP DEL, 355A deletion Primary pulmonary hypertension [RCV000009343] Chr2:2q33 pathogenic
BMPR2, 5-BP DEL, NT1099 deletion Pulmonary hypertension, primary, 1 [RCV000009348] Chr2:2q33 pathogenic
BMPR2, 2-BP DEL, 1-BP INS, NT690 indel Pulmonary hypertension, primary, 1 [RCV000009352] Chr2:2q33 pathogenic
NG_009363.1:g.(161407_170984)_(171122_181389)del deletion Pulmonary hypertension, primary, 1 [RCV000009365] Chr2:2q33 pathogenic
NC_000002.12:g.(?_202376327_202567749_?)del deletion Pulmonary hypertension, primary, 1 [RCV000009366] Chr2:2q33 pathogenic
NM_001204.7(BMPR2):c.(76+1_77-1)_(247+1_248-1)del deletion Pulmonary hypertension, primary, 1 [RCV000009363]|Pulmonary venoocclusive disease 1 [RCV003984802] Chr2:202464809..202464979 [GRCh38]
Chr2:203329532..203329702 [GRCh37]
Chr2:2q33.1		 pathogenic
NM_001204.7(BMPR2):c.2695C>T (p.Arg899Ter) single nucleotide variant Primary pulmonary hypertension [RCV001376577]|Pulmonary arterial hypertension [RCV001003746]|Pulmonary arterial hypertension [RCV001823864]|Pulmonary hypertension, primary, 1 [RCV000009341]|Pulmonary hypertension, primary, 1 [RCV000763065]|not provided [RCV001810839] Chr2:202556360 [GRCh38]
Chr2:203421083 [GRCh37]
Chr2:2q33.2		 pathogenic|not provided
NM_001204.7(BMPR2):c.218C>G (p.Ser73Ter) single nucleotide variant Pulmonary arterial hypertension [RCV001003653]|Pulmonary hypertension, primary, 1 [RCV000009342] Chr2:202464950 [GRCh38]
Chr2:203329673 [GRCh37]
Chr2:2q33.1		 pathogenic
NM_001204.7(BMPR2):c.354T>G (p.Cys118Trp) single nucleotide variant Primary pulmonary hypertension [RCV001851760]|Pulmonary arterial hypertension [RCV001823865]|Pulmonary arterial hypertension [RCV004547471]|Pulmonary hypertension, primary, 1 [RCV000009344] Chr2:202467625 [GRCh38]
Chr2:203332348 [GRCh37]
Chr2:2q33.1		 pathogenic|not provided
1 to 10 of 1392 rows

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR19Ahsa-miR-19a-3pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotNon-Functional MTI19390056
MIR19Ahsa-miR-19a-3pMirecordsexternal_info{changed}NA19390056
MIR20Ahsa-miR-20a-5pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI19390056
MIR20Ahsa-miR-20a-3pMirecordsexternal_info{changed}NA19390056
MIR181Chsa-miR-181c-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI23352489
MIR19B2hsa-miR-19b-3pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotNon-Functional MTI19390056
MIR19B1hsa-miR-19b-3pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotNon-Functional MTI19390056
MIR21hsa-miR-21-5pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI19578724
MIR21hsa-miR-21-5pMirecordsexternal_infoNANA19578724
MIR100hsa-miR-100-5pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI22684006
MIR21hsa-miR-21-5pOncomiRDBexternal_infoNANA19578724
MIR17hsa-miR-17-5pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI19390056
MIR17hsa-miR-17-5pMirecordsexternal_info{changed}NA19390056
MIR92A2hsa-miR-92a-3pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotNon-Functional MTI19390056
MIR302Chsa-miR-302c-3pMirtarbaseexternal_infoImmunoblot//Luciferase reporter assay//qRT-PCRFunctional MTI22988237

Predicted Target Of
Summary Value
Count of predictions:6233
Count of miRNA genes:1166
Interacting mature miRNAs:1504
Transcripts:ENST00000374574, ENST00000374580, ENST00000479069
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


1 to 10 of 38 rows
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD ID
Symbol
Name
LOD
P Value
Trait
Sub Trait
Chr
Start
Stop
Species
597606557GWAS1663417_Hmetabolic disease QTL GWAS1663417 (human)3e-11metabolic disease2202535276202535277Human
597034143GWAS1130217_Htriglyceride measurement QTL GWAS1130217 (human)6e-13triglyceride measurementblood triglyceride level (CMO:0000118)2202567081202567082Human
597195988GWAS1292062_Hlean body mass QTL GWAS1292062 (human)3e-08body lean mass (VT:0010483)total body lean mass (CMO:0003950)2202427316202427317Human
597041304GWAS1137378_Htriglyceride measurement QTL GWAS1137378 (human)5e-10triglyceride measurementblood triglyceride level (CMO:0000118)2202567081202567082Human
597195991GWAS1292065_Hlean body mass QTL GWAS1292065 (human)3e-08body lean mass (VT:0010483)total body lean mass (CMO:0003950)2202534835202534836Human
597273800GWAS1369874_Hlow density lipoprotein cholesterol measurement QTL GWAS1369874 (human)1e-30low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)2202437904202437905Human
597347983GWAS1444057_Hmyocardial infarction QTL GWAS1444057 (human)0.000003myocardial infarction2202473172202473173Human
596954689GWAS1074208_Hsize QTL GWAS1074208 (human)1e-09size2202476260202476261Human
597426379GWAS1522453_Hgout QTL GWAS1522453 (human)3e-15gout2202553814202553815Human
407385554GWAS1034530_Hobsolete_red blood cell distribution width QTL GWAS1034530 (human)2e-08obsolete_red blood cell distribution width2202406544202406545Human

1 to 10 of 38 rows
D2S2918  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372203,250,655 - 203,250,794UniSTSGRCh37
Build 362202,958,900 - 202,959,039RGDNCBI36
Celera2197,002,438 - 197,002,577RGD
Cytogenetic Map2q33-q34UniSTS
HuRef2195,097,753 - 195,097,892UniSTS
RH48774  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372203,430,454 - 203,430,610UniSTSGRCh37
Build 362203,138,699 - 203,138,855RGDNCBI36
Celera2197,182,384 - 197,182,540RGD
Cytogenetic Map2q33-q34UniSTS
HuRef2195,277,292 - 195,277,448UniSTS
GeneMap99-GB4 RH Map2631.2UniSTS
NCBI RH Map21529.6UniSTS
G31877  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372203,371,139 - 203,371,350UniSTSGRCh37
Build 362203,079,384 - 203,079,595RGDNCBI36
Celera2197,123,142 - 197,123,353RGD
Cytogenetic Map2q33-q34UniSTS
HuRef2195,218,153 - 195,218,364UniSTS
RH94008  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372203,426,872 - 203,426,991UniSTSGRCh37
Build 362203,135,117 - 203,135,236RGDNCBI36
Celera2197,178,802 - 197,178,921RGD
Cytogenetic Map2q33-q34UniSTS
HuRef2195,273,710 - 195,273,829UniSTS
GeneMap99-GB4 RH Map2631.2UniSTS
SHGC-104910  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372203,393,781 - 203,394,085UniSTSGRCh37
Build 362203,102,026 - 203,102,330RGDNCBI36
Celera2197,145,669 - 197,145,973RGD
Cytogenetic Map2q33-q34UniSTS
HuRef2195,240,641 - 195,240,945UniSTS
TNG Radiation Hybrid Map2102429.0UniSTS
G31437  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372203,426,872 - 203,426,985UniSTSGRCh37
Build 362203,135,117 - 203,135,230RGDNCBI36
Celera2197,178,802 - 197,178,915RGD
Cytogenetic Map2q33-q34UniSTS
HuRef2195,273,710 - 195,273,823UniSTS
BMPR2_2375  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372203,431,614 - 203,432,273UniSTSGRCh37
Build 362203,139,859 - 203,140,518RGDNCBI36
Celera2197,183,544 - 197,184,203RGD
HuRef2195,278,452 - 195,279,111UniSTS
RH69577  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372203,360,317 - 203,360,530UniSTSGRCh37
Build 362203,068,562 - 203,068,775RGDNCBI36
Celera2197,112,324 - 197,112,537RGD
Cytogenetic Map2q33-q34UniSTS
HuRef2195,207,332 - 195,207,545UniSTS
GeneMap99-GB4 RH Map2628.34UniSTS
NCBI RH Map21520.7UniSTS
SHGC-57059  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372203,240,409 - 203,240,559UniSTSGRCh37
Build 362202,948,654 - 202,948,804RGDNCBI36
Celera2196,992,186 - 196,992,336RGD
Cytogenetic Map2q33-q34UniSTS
HuRef2195,087,631 - 195,087,781UniSTS
RH69994  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372203,431,685 - 203,431,844UniSTSGRCh37
Build 362203,139,930 - 203,140,089RGDNCBI36
Celera2197,183,615 - 197,183,774RGD
Cytogenetic Map2q33-q34UniSTS
HuRef2195,278,523 - 195,278,682UniSTS
GeneMap99-GB4 RH Map2631.3UniSTS
NCBI RH Map21529.6UniSTS
GDB:434012  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map2q31.2-q33.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map5q21UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map17q25.2UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map1p21.3-p13.1UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map1pter-q31.3UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map10p11.1UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map2q11.2-q12UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic MapXq21.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map4p16UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map6pter-p12.1UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map14q31UniSTS




adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2437 2788 2253 4973 1726 2351 5 623 1951 465 2269 7303 6471 53 3734 1 852 1744 1617 175 1


1 to 30 of 32 rows
RefSeq Transcripts NG_009363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011511687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343506 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC009960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC064836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC073410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK093832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY277593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018743 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC041039 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC043650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC052985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF063564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG530017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ889263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ896556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU176845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  C15977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D50516 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA787547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB233604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH191353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
1 to 30 of 32 rows

Ensembl Acc Id: ENST00000374574   ⟹   ENSP00000363702
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2202,377,434 - 202,567,751 (+)Ensembl
Ensembl Acc Id: ENST00000374580   ⟹   ENSP00000363708
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2202,376,327 - 202,567,749 (+)Ensembl
Ensembl Acc Id: ENST00000479069
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2202,464,826 - 202,475,139 (+)Ensembl
Ensembl Acc Id: ENST00000638587   ⟹   ENSP00000491062
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2202,464,808 - 202,560,341 (+)Ensembl
RefSeq Acc Id: NM_001204   ⟹   NP_001195
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382202,376,327 - 202,567,749 (+)NCBI
GRCh372203,241,033 - 203,432,474 (+)NCBI
Build 362202,949,916 - 203,140,719 (+)NCBI Archive
HuRef2195,088,272 - 195,279,312 (+)ENTREZGENE
CHM1_12203,247,530 - 203,439,226 (+)NCBI
T2T-CHM13v2.02202,857,368 - 203,049,012 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011511687   ⟹   XP_011509989
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382202,376,327 - 202,567,749 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054343506   ⟹   XP_054199481
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02202,857,368 - 203,049,014 (+)NCBI
RefSeq Acc Id: NP_001195   ⟸   NM_001204
- Peptide Label: precursor
- UniProtKB: Q53SA5 (UniProtKB/Swiss-Prot),   Q4ZG08 (UniProtKB/Swiss-Prot),   Q16569 (UniProtKB/Swiss-Prot),   Q13161 (UniProtKB/Swiss-Prot),   Q585T8 (UniProtKB/Swiss-Prot),   Q13873 (UniProtKB/Swiss-Prot),   A8K8R5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011509989   ⟸   XM_011511687
- Peptide Label: isoform X1
- UniProtKB: A8K8R5 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000491062   ⟸   ENST00000638587
Ensembl Acc Id: ENSP00000363702   ⟸   ENST00000374574
Ensembl Acc Id: ENSP00000363708   ⟸   ENST00000374580
Protein kinase

Name Modeler Protein Id AA Range Protein Structure
AF-Q13873-F1-model_v2 AlphaFold Q13873 1-1038 view protein structure

RGD ID:6862564
Promoter ID:EPDNEW_H4447
Type:initiation region
Name:BMPR2_1
Description:bone morphogenetic protein receptor type 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4448  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382202,376,438 - 202,376,498EPDNEW
RGD ID:6862566
Promoter ID:EPDNEW_H4448
Type:initiation region
Name:BMPR2_2
Description:bone morphogenetic protein receptor type 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4447  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382202,376,813 - 202,376,873EPDNEW
RGD ID:6796867
Promoter ID:HG_KWN:36763
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001204,   OTTHUMT00000336292,   OTTHUMT00000336293,   UC002UZE.2,   UC010FTR.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362202,948,936 - 202,950,502 (+)MPROMDB


1 to 40 of 42 rows
Database
Acc Id
Source(s)
COSMIC BMPR2 COSMIC
Ensembl Genes ENSG00000204217 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000374574.2 UniProtKB/Swiss-Prot
  ENST00000374580 ENTREZGENE
  ENST00000374580.10 UniProtKB/Swiss-Prot
Gene3D-CATH 2.10.60.10 UniProtKB/Swiss-Prot
  Phosphorylase Kinase, domain 1 UniProtKB/Swiss-Prot
  Transferase(Phosphotransferase) domain 1 UniProtKB/Swiss-Prot
GTEx ENSG00000204217 GTEx
HGNC ID HGNC:1078 ENTREZGENE
Human Proteome Map BMPR2 Human Proteome Map
InterPro Activin_recp UniProtKB/Swiss-Prot
  Kinase-like_dom_sf UniProtKB/Swiss-Prot
  Prot_kinase_dom UniProtKB/Swiss-Prot
  Protein_kinase_ATP_BS UniProtKB/Swiss-Prot
  Snake_toxin-like_sf UniProtKB/Swiss-Prot
  TGFB_receptor UniProtKB/Swiss-Prot
KEGG Report hsa:659 UniProtKB/Swiss-Prot
NCBI Gene 659 ENTREZGENE
OMIM 600799 OMIM
PANTHER BONE MORPHOGENETIC PROTEIN RECEPTOR TYPE-2 UniProtKB/Swiss-Prot
  PTHR23255 UniProtKB/Swiss-Prot
Pfam Activin_recp UniProtKB/Swiss-Prot
  Pkinase UniProtKB/Swiss-Prot
PharmGKB PA25388 PharmGKB
PROSITE PROTEIN_KINASE_ATP UniProtKB/Swiss-Prot
  PROTEIN_KINASE_DOM UniProtKB/Swiss-Prot
Superfamily-SCOP SSF56112 UniProtKB/Swiss-Prot
  SSF57302 UniProtKB/Swiss-Prot
UniProt A8K8R5 ENTREZGENE, UniProtKB/TrEMBL
  BMPR2_HUMAN UniProtKB/Swiss-Prot
  Q13161 ENTREZGENE
  Q13873 ENTREZGENE
  Q16569 ENTREZGENE
  Q4ZG08 ENTREZGENE
  Q53SA5 ENTREZGENE
  Q585T8 ENTREZGENE
UniProt Secondary Q13161 UniProtKB/Swiss-Prot
  Q16569 UniProtKB/Swiss-Prot
  Q4ZG08 UniProtKB/Swiss-Prot
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Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-03 BMPR2  bone morphogenetic protein receptor type 2    bone morphogenetic protein receptor type II  Symbol and/or name change 5135510 APPROVED
2016-03-31 BMPR2  bone morphogenetic protein receptor type II  PPH1  primary pulmonary hypertension 1  Data merged from RGD:1353235 737654 PROVISIONAL
2015-12-08 BMPR2  bone morphogenetic protein receptor type II    bone morphogenetic protein receptor, type II (serine/threonine kinase)  Symbol and/or name change 5135510 APPROVED