AutismKB 2.0

Annotation Detail for BMPR2


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Basic Information Top
Gene Symbol:BMPR2 ( BMPR-II,BMPR3,BMR2,BRK-3,FLJ41585,FLJ76945,PPH1,T-ALK )
Gene Full Name: bone morphogenetic protein receptor, type II (serine/threonine kinase)
Band: 2q33.1-q33.2
Quick LinksEntrez ID:659; OMIM: 600799; Uniprot ID:BMPR2_HUMAN; ENSEMBL ID: ENSG00000204217; HGNC ID: 1078
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04350TGF-beta signaling pathway
hsa04060Cytokine-cytokine receptor interaction
Pathway IDPathway Name
Signaling by BMP
Pathway IDPathway Name
200123BMP receptor signaling
200138ALK2 signaling events
200126ALK1 signaling events
Pathway IDPathway Name
P00052TGF-beta signaling pathway
No data
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1724Vascular disease
1746Hypertension, Pulmonary
1766Renal Cell cancer
1831Prostate cancer
1944Breast cancer
1975Congenital heart disease
2091Hypertension
2066Lung cancer
2074Asthma
2120Rabies
2158Pulmonary hypertension
2162Capillaries disease
Desease Name
CARDIOVASCULAR
hypertension
No data
Desease Name
Pulmonary hypertension, primary, fenfluramine-associated
Pulmonary hypertension, familial primary
Pulmonary venoocclusive disease
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane results in increased expression of BMPR2 mRNAincreases expression 18648102
C035763 5,5'-bis(8-(phenylamino)-1-naphthalenesulfonate) 5,5'-bis(8-(phenylamino)-1-naphthalenesulfonate) binds to BMPR2 proteinaffects binding 17363346
C035763 5,5'-bis(8-(phenylamino)-1-naphthalenesulfonate) 5,5'-bis(8-(phenylamino)-1-naphthalenesulfonate) promotes the reaction [BMP7 protein binds to BMPR2 protein]affects binding|increases reaction 17363346
D000643 Ammonium Chloride Ammonium Chloride affects the expression of BMPR2 mRNAaffects expression 16483693
D001151 Arsenic Arsenic results in decreased expression of BMPR2 mRNAdecreases expression 19654921
C006632 arsenic trioxide arsenic trioxide results in increased expression of BMPR2 mRNAincreases expression 20458559
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of BMPR2 mRNAdecreases expression 20064835
20106945
D004041 Dietary Fats Dietary Fats results in decreased expression of BMPR2 mRNAdecreases expression 18042831
D004958 Estradiol Estradiol results in decreased expression of BMPR2 mRNAdecreases expression 20068009
C041786 palm oil palm oil results in decreased expression of BMPR2 mRNAdecreases expression 18042831
D013654 Taurine Taurine results in decreased expression of BMPR2 mRNAdecreases expression 16579726
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of BMPR2 mRNAincreases expression 12377990
C025643 vinclozolin vinclozolin affects the expression of BMPR2 mRNAaffects expression 19015723
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.0011752688 14514962 15322242
MESH:D000138 Acidosis Ammonium Chloride 3.7118287403
MESH:D000230 Adenocarcinoma arsenic trioxide 7.2219825857 11798837
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 7.2220464547 20127859
MESH:D000230 Adenocarcinoma Estradiol 7.2211473722
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 6.803712494
MESH:D000236 Adenoma Benzo(a)pyrene 6.806695378
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.5316835633
MESH:D018246 Adrenocortical Adenoma Arsenic 5.3917306315
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.0511748828
MESH:D001008 Anxiety Disorders vinclozolin 3.7319015723
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.2119183758
MESH:D020261 Arsenic Poisoning Arsenic 2.8916251483 18414634 16835338 12569548
MESH:D001161 Arteriosclerosis Dietary Fats 4.0315238619
MESH:D050197 Atherosclerosis Arsenic 3.3119371607 12928151
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 5.1911289319 1440618
MESH:D001778 Blood Coagulation Disorders arsenic trioxide 9.3316206674
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 9.3312125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 3.9615340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.8315746008
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 1.9320146248 17474063
MESH:D001943 Breast Neoplasms Dietary Fats 1.9320435547
MESH:D001943 Breast Neoplasms Estradiol 1.9317018787 17289903 17261762 12948864 18497071 16675129 14630087 19861407
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.9320435547
MESH:D002051 Burkitt Lymphoma arsenic trioxide 4.4511589617
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 4.6216111702
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.8916835633
MESH:D002280 Carcinoma, Basal Cell Arsenic 3.6517687452 15504454
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 6.737296757 3581430
MESH:D006528 Carcinoma, Hepatocellular Arsenic 6.7317306315 16507464
MESH:D006528 Carcinoma, Hepatocellular arsenic trioxide 6.7315553829 16217749 11135700 14691202 15073043
MESH:D006528 Carcinoma, Hepatocellular Estradiol 6.7316924424
MESH:D002291 Carcinoma, Papillary arsenic trioxide 5.0519014326
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 2.727296757
MESH:D018288 Carcinoma, Small Cell arsenic trioxide 4.2212490120
MESH:D002294 Carcinoma, Squamous Cell Arsenic 4.8118922899 15504454 17687452
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 4.8120419170
MESH:D002295 Carcinoma, Transitional Cell Arsenic 4.1818640142
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4216120746 18850075 18670907
MESH:D002318 Cardiovascular Diseases Arsenic 3.5219152805 15738583 17938729
MESH:D002340 Carotid Artery Diseases Arsenic 4.4116973168 18022660
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 6.917505956
MESH:D002471 Cell Transformation, Neoplastic Estradiol 6.9118566989
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.2616835633
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 3.239022650 19486331
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.148697196 15340226 12621046 15668235 16354765
MESH:D015179 Colorectal Neoplasms arsenic trioxide 1.8620501625
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.1617141729 14669216
MESH:D023903 Coronary Restenosis arsenic trioxide 4.3112609071
MESH:D019465 Craniofacial Abnormalities arsenic trioxide 2.5010525206
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 2.5015322242 10048152 20055451
MESH:D003456 Cryptorchidism vinclozolin 4.4714966744
MESH:D016757 Death, Sudden, Cardiac arsenic trioxide 4.2115213294
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 2.9418759878 11906362 8156756 14531868 12868966 2524372 8970840 11298694
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 3.613621924 2952479
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.6917107852
MESH:D058065 Diabetic Cardiomyopathies Taurine 6.2116025228
MESH:D003928 Diabetic Nephropathies Estradiol 3.5119279558
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 6.5518289764 1440618 18692083 6679447 8291058 11289319 9022650 9328219 6482804 18648102 9653073 7440962 16192314
MESH:D056486 Drug-Induced Liver Injury Taurine 6.559328219
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 6.5520420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.8411462148
MESH:D050171 Dyslipidemias Dietary Fats 3.5318367378
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.4811000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.0818230668 15322242 16714409
MESH:D016889 Endometrial Neoplasms Estradiol 3.0519148513 18566989 11473722
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.1210568697 9294722
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 7.373581430
MESH:D004938 Esophageal Neoplasms arsenic trioxide 7.3712903497
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 7.3716530937
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.0911564622
MESH:D005234 Fatty Liver arsenic trioxide 8.2615073043
MESH:D005234 Fatty Liver Dietary Fats 8.2617967931 18296743 19551842 19004024
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.5911858732
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 5.196705139
MESH:D005355 Fibrosis Dietary Fats 9.0918296743
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 9.0920067830
MESH:D005534 Foot Diseases Arsenic 5.736392382
MESH:D005706 Gallbladder Neoplasms arsenic trioxide 4.3916904648
MESH:D030342 Genetic Diseases, Inborn vinclozolin 5.0916973722
MESH:D005832 Genital Diseases, Male vinclozolin 5.4716417039
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.157505956
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.7710696789
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 6.6320471113
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 6.6311294989 10048152
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.4411000095
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 3.646705139
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.0316120746 15340226 12621046
MESH:D006558 Herpes Genitalis Estradiol 5.2115709030
MESH:D019584 Hot Flashes Estradiol 3.9317088409
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.2215340226 16959395 8697196 18606429 16354765
MESH:D006937 Hypercholesterolemia Dietary Fats 3.7021332399
MESH:D017488 Hyperkeratosis, Epidermolytic Arsenic 4.5617050553
MESH:D006949 Hyperlipidemias Dietary Fats 3.7321332399
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 4.0815034207
MESH:D006973 Hypertension Arsenic 5.3516076760 11953799 9931084
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 5.3518850075 18670907
MESH:D006976 Hypertension, Pulmonary marker/mechanism
MESH:D006987 Hypesthesia Arsenic 5.7316093927
MESH:D007248 Infertility, Male vinclozolin 3.1116467254
MESH:D007249 Inflammation Dietary Fats 5.0920412841
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.0912878042 12200463
MESH:D007333 Insulin Resistance Dietary Fats 7.6011836018 18457598
MESH:D007333 Insulin Resistance Estradiol 7.6016393666 16627594
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 5.198074119 9022650
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.4416580747
MESH:D007642 Keratosis Arsenic 5.1412749816 16930632
MESH:D007674 Kidney Diseases Estradiol 2.6415618244
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 7.676582329
MESH:D007680 Kidney Neoplasms Estradiol 7.6715610895
MESH:D007938 Leukemia arsenic trioxide 2.8815070760
MESH:D015459 Leukemia-Lymphoma, Adult T-Cell arsenic trioxide 3.9017077332 12560223
MESH:D007948 Leukemia, Monocytic, Acute arsenic trioxide 4.4616972261
MESH:D015464 Leukemia, Myelogenous, Chronic, BCR-ABL Positive arsenic trioxide 3.5114633726
MESH:D007951 Leukemia, Myeloid arsenic trioxide 3.8719077051
MESH:D015470 Leukemia, Myeloid, Acute arsenic trioxide 2.1517050201 16968895 19850784 20471514 16467208
MESH:D015473 Leukemia, Promyelocytic, Acute Arsenic 8.0117339181
MESH:D015473 Leukemia, Promyelocytic, Acute arsenic trioxide 8.0119035177 19225113 11468182 16966277 17217047 16331271 17107899 15748426 9834237 11161223 15336539 16330433 16112521 16891316 19642359 12712474 17712046 17649720 12018890 12679006 19075265 17869043 16823087 15622746 15213294
MESH:D015458 Leukemia, T-Cell arsenic trioxide 4.4816882451
MESH:D007984 Leydig Cell Tumor vinclozolin 4.8916417039
MESH:D008103 Liver Cirrhosis Dietary Fats 2.9318296743
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.269327722 15034207
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 3.7014716833 14659978
MESH:D008106 Liver Cirrhosis, Experimental Taurine 3.7015931870 15893842
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 3.7012878042
MESH:D008107 Liver Diseases Arsenic 2.5611134558
MESH:D008113 Liver Neoplasms Arsenic 11.0316368122
MESH:D008113 Liver Neoplasms arsenic trioxide 11.0314682389
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 11.0320195826 21137059
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 11.0316984957
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 10.191399818 598648 6587162 3712494
MESH:D008114 Liver Neoplasms, Experimental arsenic trioxide 10.1920377131
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 10.1912151625
MESH:D008133 Long QT Syndrome arsenic trioxide 3.4315213294
MESH:D008175 Lung Neoplasms Arsenic 4.9417976673 17306315 19168569
MESH:D008175 Lung Neoplasms arsenic trioxide 4.9419825857 11798837
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 4.9418520028 6695378 17053015 18569708 20869020 18816296 20064080 20464547 20135361
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 4.9411884234 19555203
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 2.6211807958 11408345 16891317 17203775
MESH:D020149 Manganese Poisoning Estradiol 4.6619453300
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.2716381670
MESH:D009101 Multiple Myeloma arsenic trioxide 3.1819417148 14977855 15949261 11468182 19549372
MESH:D009182 Mycosis Fungoides arsenic trioxide 4.8518349030
MESH:D009190 Myelodysplastic Syndromes arsenic trioxide 3.2016882451 16105982
MESH:D017202 Myocardial Ischemia Arsenic 9.3015371236
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 9.3012213967
MESH:D015428 Myocardial Reperfusion Injury Estradiol 3.3616810080
MESH:D009361 Neoplasm Invasiveness arsenic trioxide 4.0916624393
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 2.513581430
MESH:D009369 Neoplasms Benzo(a)pyrene 2.2211141357
MESH:D009389 Neovascularization, Pathologic Estradiol 3.8917289903
MESH:D009421 Nervous System Malformations Estradiol 9.8916427766 11399458
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 9.8914600291
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 12.596679447
MESH:D009436 Neural Tube Defects Arsenic 12.5916620997
MESH:D009436 Neural Tube Defects arsenic trioxide 12.5910525206
MESH:D020078 Neurogenic Inflammation Arsenic 4.4917056641
MESH:D009765 Obesity Dietary Fats 2.3118457598 21332399 20518802 11836018 19632207 16723640 17217161 18674790 20132043
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 3.526482804 4026338
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 5.193988306
MESH:D010051 Ovarian Neoplasms Arsenic 8.1117306315
MESH:D010051 Ovarian Neoplasms arsenic trioxide 8.1116624393 19769630 12452020
MESH:D010051 Ovarian Neoplasms Estradiol 8.1119401270
MESH:D010190 Pancreatic Neoplasms arsenic trioxide 2.5615580305
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 3.627296757
MESH:D010235 Paraganglioma arsenic trioxide 4.2819927285
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.4212520081
MESH:D010523 Peripheral Nervous System Diseases Arsenic 4.3016093927
MESH:D016491 Peripheral Vascular Diseases Arsenic 5.146392382 16905509 15371236
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 4.646228378
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.6918163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 10.0111896295 11118676 11222880 11399792
MESH:D011297 Prenatal Exposure Delayed Effects vinclozolin 10.0118042343 19015723 18220299
MESH:D011469 Prostatic Diseases vinclozolin 5.0918220299
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 3.9920887781
MESH:D011471 Prostatic Neoplasms Arsenic 2.0616140617
MESH:D011471 Prostatic Neoplasms arsenic trioxide 2.0619131511
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 2.0617292933
MESH:D011471 Prostatic Neoplasms Estradiol 2.0616740699
MESH:D011472 Prostatitis vinclozolin 5.0918629315
MESH:D011507 Proteinuria Arsenic 4.1221343184
MESH:D011668 Pulmonary Veno-Occlusive Disease marker/mechanism
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 3.9618990726
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.463692021
MESH:D012512 Sarcoma, Ewing's arsenic trioxide 4.0916646077
MESH:D012871 Skin Diseases Arsenic 2.7717050553 19834688 17548696 18709164 15952646 17453740 16759981 17938729 16353154 6392382 16702368
MESH:D012878 Skin Neoplasms Arsenic 9.7217976673 15504454 17029826 16251483 19538983 17050553
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 9.7219755658 10029692
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 9.7216192470
MESH:D013274 Stomach Neoplasms arsenic trioxide 2.3917007042
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 2.3920155912 2093021
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.0812697716
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 7.447505956 6582329 3712494 1399818 6587162
MESH:D013964 Thyroid Neoplasms arsenic trioxide 7.4419014326
MESH:D013978 Tibial Fractures Estradiol 4.8619048282
MESH:D016171 Torsades de Pointes arsenic trioxide 4.1115213294
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 12.278074119
MESH:D001749 Urinary Bladder Neoplasms Arsenic 12.2717976673 17306315 19322015 15987713 11144890 18640142 19429237
MESH:D001749 Urinary Bladder Neoplasms arsenic trioxide 12.2720435036 11780464 12845720 12973940
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 12.2717053015
MESH:D014652 Vascular Diseases Arsenic 4.8917056641
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.7712125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.4215886252
MESH:D015430 Weight Gain Dietary Fats 3.8316723640
Pathway ID Pathway Name
KEGG:04060 Cytokine-cytokine receptor interaction
REACT:12034 Signaling by BMP
KEGG:04350 TGF-beta signaling pathway
Pharmacogenomics Knowledge Base Top
Drug Bank Top

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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