AutismKB 2.0

Annotation Detail for ACVR2A


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Basic Information Top
Gene Symbol:ACVR2A ( ACTRII,ACVR2 )
Gene Full Name: activin A receptor, type IIA
Band: 2q22.3-q23.1
Quick LinksEntrez ID:92; OMIM: 102581; Uniprot ID:AVR2A_HUMAN; ENSEMBL ID: ENSG00000121989; HGNC ID: 173
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
200126ALK1 signaling events
Pathway IDPathway Name
P00052TGF-beta signaling pathway
No data
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1831Prostate cancer
2053Colon cancer
No data
Desease Name
Response to statin therapy
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000643 Ammonium Chloride Ammonium Chloride affects the expression of ACVR2A mRNAaffects expression 16483693
D002251 Carbon Tetrachloride Carbon Tetrachloride results in decreased expression of ACVR2A mRNAdecreases expression 12706302
D004041 Dietary Fats Dietary Fats results in decreased expression of ACVR2A mRNAdecreases expression 18042831
D019833 Genistein Genistein results in decreased expression of ACVR2A mRNAdecreases expression 17341692
C041786 palm oil palm oil results in decreased expression of ACVR2A mRNAdecreases expression 18042831
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of ACVR2A mRNAaffects binding|increases activity|increases expression 19710929
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin affects the expression of ACVR2A mRNAaffects expression 18691609
D014212 Tretinoin Tretinoin results in increased expression of ACVR2Aincreases expression 8959336
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.1815322242 14514962 11752688
MESH:D000138 Acidosis Ammonium Chloride 3.9018287403
MESH:D055371 Acute Lung Injury pirinixic acid 3.3818653653
MESH:D000230 Adenocarcinoma Genistein 2.5211473722
MESH:D018248 Adenoma, Liver Cell pirinixic acid 11.0516434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 11.0516835633
MESH:D000505 Alopecia Tretinoin 3.8115955085
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.1711748828
MESH:D001161 Arteriosclerosis Dietary Fats 4.1915238619
MESH:D001169 Arthritis, Experimental Tretinoin 3.2116412693
MESH:D001172 Arthritis, Rheumatoid Tretinoin 2.3116292516
MESH:D001249 Asthma Tretinoin 2.4016456186
MESH:D001471 Barrett Esophagus Tretinoin 4.6816935849
MESH:D001778 Blood Coagulation Disorders pirinixic acid 16.7319483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 16.7312125929
MESH:D001778 Blood Coagulation Disorders Tretinoin 16.7316206674 16197459
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.1715340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9115746008
MESH:D001943 Breast Neoplasms Dietary Fats 1.9820435547
MESH:D001943 Breast Neoplasms Genistein 1.9816541309 16873071 17200150
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.9820435547
MESH:D001943 Breast Neoplasms Tretinoin 1.9816166294 16873071 16443354
MESH:D001997 Bronchopulmonary Dysplasia Tretinoin 4.9316813970
MESH:D002252 Carbon Tetrachloride Poisoning Carbon Tetrachloride 4.0816227642 16124888 15700767 16192424 15721981 16097048 15673190 10355542 16011737 3786805 18705752 16050911
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9916835633
MESH:D018236 Carcinoma, Embryonal Tretinoin 5.5416168501
MESH:D006528 Carcinoma, Hepatocellular Carbon Tetrachloride 4.8218788625
MESH:D006528 Carcinoma, Hepatocellular Genistein 4.8216924424
MESH:D006528 Carcinoma, Hepatocellular Tretinoin 4.821917145
MESH:D002294 Carcinoma, Squamous Cell Tretinoin 2.3416051514 16096774
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4916120746 18670907 18850075
MESH:D002318 Cardiovascular Diseases Genistein 3.4616332659
MESH:D002386 Cataract Tretinoin 3.2217460283
MESH:D018290 Cervical Intraepithelial Neoplasia Tretinoin 4.9316129372
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.3816835633
MESH:D002779 Cholestasis pirinixic acid 3.0019176532
MESH:D002822 Choriocarcinoma Tretinoin 5.5416461808
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 6.0515668235 8697196 12621046 15340226 16354765
MESH:D002972 Cleft Palate Tretinoin 6.059407595
MESH:D003092 Colitis Tretinoin 4.0117035595
MESH:D003110 Colonic Neoplasms Genistein 2.3217182828
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.2717141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 2.5020055451 15322242 10048152
MESH:D019465 Craniofacial Abnormalities Tretinoin 2.509142499 9664655 16925845 10589399 8800419 14991402 9224671 17551590 9211117 9125849
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5218249437
MESH:D003924 Diabetes Mellitus, Type 2 Genistein 4.4916647724
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 4.4917107852
MESH:D056486 Drug-Induced Liver Injury Carbon Tetrachloride 3.929327722 7440962 2869522 3732212 16227642 15968718 21278145 7120509 17522070 15998439 4309450 19085960 10915739 6623471 7179309 19336974 6884620 11566570 10092053 16177239 15027814 3786805
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 3.9220420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9311462148
MESH:D050171 Dyslipidemias Dietary Fats 3.6218367378
MESH:D004487 Edema pirinixic acid 7.3512083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 7.3511000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 13.2318230668 15322242 16714409
MESH:D004489 Edema, Cardiac Tretinoin 13.2318230668
MESH:D004714 Endometrial Hyperplasia Genistein 4.9316402032
MESH:D016889 Endometrial Neoplasms Genistein 8.0511473722
MESH:D016889 Endometrial Neoplasms Tretinoin 8.0516569247
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.259294722 10568697
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 9.4311564622
MESH:D005124 Eye Abnormalities Tretinoin 9.439664655 16938888
MESH:D005234 Fatty Liver Carbon Tetrachloride 14.5661145 12631006 16045604 12795759 19224547 17595544 16239168 15959796
MESH:D005234 Fatty Liver Dietary Fats 14.5619004024 18296743 19551842 17967931
MESH:D005234 Fatty Liver pirinixic acid 14.5620131406 19236843
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.7611858732
MESH:D005355 Fibrosis Carbon Tetrachloride 23.9018705752
MESH:D005355 Fibrosis Dietary Fats 23.9018296743
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 23.9020067830
MESH:D005355 Fibrosis Tretinoin 23.9017994277
MESH:D005909 Glioblastoma Genistein 7.7016598420
MESH:D005909 Glioblastoma Tretinoin 7.7017312396
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.9710696789
MESH:D006258 Head and Neck Neoplasms Tretinoin 3.3416096774
MESH:D006317 Hearing Loss, Noise-Induced Tretinoin 5.5416084493
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 6.9110048152 11294989
MESH:D006330 Heart Defects, Congenital Tretinoin 6.9114991402 9664655
MESH:D006333 Heart Failure pirinixic acid 2.6720558911
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.5811000095
MESH:D006505 Hepatitis Carbon Tetrachloride 3.8819110552 19900420
MESH:D006529 Hepatomegaly pirinixic acid 9.3016221962 19176532 18467677 19772884
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 9.3015340226 16120746 12621046
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.4215340226 18606429 16959395 8697196 16354765
MESH:D006930 Hyperalgesia Tretinoin 3.4016870215
MESH:D006932 Hyperbilirubinemia Carbon Tetrachloride 4.8716899240
MESH:D006937 Hypercholesterolemia Dietary Fats 3.8321332399
MESH:D017681 Hypereosinophilic Syndrome Tretinoin 4.8816778211
MESH:D006943 Hyperglycemia pirinixic acid 3.4120558911
MESH:D006949 Hyperlipidemias Dietary Fats 3.8721332399
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9818850075 18670907
MESH:D006975 Hypertension, Portal Carbon Tetrachloride 4.3915338365
MESH:D007249 Inflammation Dietary Fats 5.2920412841
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.2912200463 12878042
MESH:D007333 Insulin Resistance Dietary Fats 7.7418457598 11836018
MESH:D007333 Insulin Resistance pirinixic acid 7.7416306350
MESH:D007410 Intestinal Diseases Tretinoin 4.0717994277
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 10.7616580747
MESH:D007569 Jaw Abnormalities Tretinoin 10.7615992940 17551590
MESH:D007938 Leukemia Genistein 6.7718980019 17468513
MESH:D007938 Leukemia Tretinoin 6.7717143497
MESH:D007951 Leukemia, Myeloid Tretinoin 3.9419285840 16482212 16932348
MESH:D015470 Leukemia, Myeloid, Acute Tretinoin 2.1117596541 16294345 19850784
MESH:D015473 Leukemia, Promyelocytic, Acute Tretinoin 3.3019225113 17107899 19029980 16788101 17301526 17339181 17294898 19075265 16891316 17361223 17649720 19642359 16823087 17712046 12679006 19035177 17506722 15748426 16935935 17217047 16140955 9834237 17368321 16331271 16766008
MESH:D017880 Limb Deformities, Congenital Tretinoin 3.479224671
MESH:D008103 Liver Cirrhosis Carbon Tetrachloride 7.0311903743 17334410 16943688 16221502 17157831 16239168 11408273 17174718 21278145
MESH:D008103 Liver Cirrhosis Dietary Fats 7.0318296743
MESH:D008106 Liver Cirrhosis, Experimental Carbon Tetrachloride 6.9912586293 18156304 18481824 18205269 15362042 18395914 18187930 17525996 18339082 17823541 18166357 17721639 15123356 15370692 16011737 17698563 17766677 18251166 17565644 18418968 17631135 18210741 12632512 15925388 16192424 17805973 15876570 15673190 18317297 15818738 17944888 10355542 15057751 17714472 18705752 17557913 16116963 16248980 15650968 12546737 15893842 17761835 15996030 12667390 18263696 18429990 15052691 17640975 12958196 12666154 15959796 12632514 17976157 14716496 12741479 18006644 18420326 15730626 16033810 18279442 16136751 12898905 16097048 13678700 18054572 18412020 20821823 14620537 14748882 12389079 11481614 12445421 18472332 16027843 18472094 18376398 12445418 14512876 12649538 17708605 17869086 15338365 17922224 18395095 17900296 16015684 15931870 17481882 14716833 12609069 14724832 16638106 18277467
MESH:D008106 Liver Cirrhosis, Experimental Genistein 6.9917823541
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 6.9915474484
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 6.9912878042
MESH:D008106 Liver Cirrhosis, Experimental Tretinoin 6.9918397230 16248980
MESH:D008107 Liver Diseases Carbon Tetrachloride 2.1316246199 15720792 15830285 17285989 16964402
MESH:D017093 Liver Failure Carbon Tetrachloride 4.4715123358
MESH:D017114 Liver Failure, Acute Carbon Tetrachloride 3.9214706259 16899240
MESH:D008113 Liver Neoplasms Carbon Tetrachloride 7.7919294768
MESH:D008113 Liver Neoplasms pirinixic acid 7.7920007298 16377806 15890375
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 7.7916984957
MESH:D008114 Liver Neoplasms, Experimental Carbon Tetrachloride 6.2312014681 15583823
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.2312151625
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 1.2411884234 19555203
MESH:D008325 Mammary Neoplasms, Experimental Genistein 3.0814578162 12929590
MESH:D008527 Medulloblastoma Tretinoin 2.8617453147
MESH:D008545 Melanoma Tretinoin 1.9716752155
MESH:D008591 Meningomyelocele Tretinoin 4.7316940565
MESH:D009135 Muscular Diseases pirinixic acid 3.8116239165
MESH:D009190 Myelodysplastic Syndromes Tretinoin 3.2017596541
MESH:D009203 Myocardial Infarction Genistein 5.9617141266
MESH:D009203 Myocardial Infarction pirinixic acid 5.9619151258
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.2112213967
MESH:D015428 Myocardial Reperfusion Injury Genistein 9.0117141266
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 9.0116411023
MESH:D009369 Neoplasms pirinixic acid 5.2617405874
MESH:D009369 Neoplasms Tretinoin 5.2616946489 16594593
MESH:D009421 Nervous System Malformations Genistein 18.0916427766
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 18.0914600291
MESH:D009421 Nervous System Malformations Tretinoin 18.099125849
MESH:D009436 Neural Tube Defects Tretinoin 3.209142499
MESH:D009765 Obesity Dietary Fats 4.6018674790 20518802 21332399 19632207 11836018 16723640 18457598 20132043 17217161
MESH:D009765 Obesity pirinixic acid 4.6020558911
MESH:D010024 Osteoporosis Genistein 3.3919401787
MESH:D015663 Osteoporosis, Postmenopausal Genistein 4.3516169203
MESH:D010051 Ovarian Neoplasms Genistein 5.1619005980
MESH:D010051 Ovarian Neoplasms Tretinoin 5.1616936753
MESH:D010146 Pain Tretinoin 3.1016870215
MESH:D010190 Pancreatic Neoplasms Tretinoin 2.5315976015
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.6212520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.8418163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.5311896295 11118676 11399792 11222880
MESH:D011471 Prostatic Neoplasms Genistein 3.4216925846 15256057 15378649
MESH:D011507 Proteinuria Tretinoin 3.8616636307
MESH:D011625 Pterygium Tretinoin 5.1316723453
MESH:D015427 Reperfusion Injury pirinixic acid 2.4919058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.1218990726
MESH:D012208 Rhabdomyosarcoma Tretinoin 4.3616283617 16116481
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 5.8916192470
MESH:D012878 Skin Neoplasms Tretinoin 5.8916467112
MESH:D013274 Stomach Neoplasms Tretinoin 1.8017261132
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.2812697716
MESH:D013964 Thyroid Neoplasms Tretinoin 3.2117045167 16026305
MESH:D014062 Tongue Neoplasms Tretinoin 4.0216051514
MESH:D014376 Tuberculosis Tretinoin 3.3616040207
MESH:D002583 Uterine Cervical Neoplasms Tretinoin 3.9016129372
MESH:D014604 Uveal Neoplasms Tretinoin 4.9916752155
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.9712125929
MESH:D014820 Vitiligo Tretinoin 4.3416761959
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.6215886252
MESH:D015430 Weight Gain Dietary Fats 3.9516723640
MESH:D009396 Wilms Tumor Tretinoin 4.1816287080
Pathway ID Pathway Name
KEGG:04060 Cytokine-cytokine receptor interaction
REACT:12034 Signaling by BMP
KEGG:04350 TGF-beta signaling pathway
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  (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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