AutismKB 2.0

Annotation Detail for MASP2


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Basic Information Top
Gene Symbol:MASP2 ( MAP19,MASP-2,MASP1P1,sMAP )
Gene Full Name: mannan-binding lectin serine peptidase 2
Band: 1p36.22
Quick LinksEntrez ID:10747; OMIM: 605102; Uniprot ID:MASP2_HUMAN; ENSEMBL ID: ENSG00000009724; HGNC ID: 6902
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa05150Staphylococcus aureus infection
hsa04610Complement and coagulation cascades
Pathway IDPathway Name
Signaling in Immune system
No data
No data
No data
Related Diseases/Disorders Top
Desease IDDesease Name
Immune system diseases
Primary immunodeficiency
H00105Mannose-binding lectin pathway component defects
Desease IDDesease Name
1822Infectious lung disease
1826Cystic fibrosis
1848Embryoma
1873Neutropenia
1992Aortic valve disease
1998Enteritis
2018Rheumatic fever
2237Neoplasm metastasis
No data
No data
Desease Name
MASP2 deficiency
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C016403 2,4-dinitrotoluene 2,4-dinitrotoluene affects the expression of MASP2 mRNAaffects expression 21346803
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene results in decreased expression of MASP2 mRNAdecreases expression 20406850
D000638 Amiodarone Amiodarone affects the expression of MASP2 mRNAaffects expression 19483382
D000643 Ammonium Chloride Ammonium Chloride affects the expression of MASP2 mRNAaffects expression 16483693
D001553 Benzbromarone Benzbromarone affects the expression of MASP2 mRNAaffects expression 19483382
D002251 Carbon Tetrachloride Carbon Tetrachloride affects the expression of MASP2 mRNAaffects expression 12734012
D002994 Clofibrate Clofibrate affects the expression of MASP2 mRNAaffects expression 19483382
D005001 Ethionine Ethionine affects the expression of MASP2 mRNAaffects expression 19483382
D009853 Omeprazole Omeprazole affects the expression of MASP2 mRNAaffects expression 19483382
C006253 pirinixic acid pirinixic acid results in decreased expression of MASP2 mRNAdecreases expression 17950772
C006253 pirinixic acid PPARA protein promotes the reaction [pirinixic acid results in decreased expression of MASP2 mRNA]decreases expression|increases reaction 17950772
C006253 pirinixic acid pirinixic acid affects the expression of MASP2 mRNAaffects expression 19483382
D011441 Propylthiouracil Propylthiouracil affects the expression of MASP2 mRNAaffects expression 19483382
D013853 Thioacetamide Thioacetamide affects the expression of MASP2 mRNAaffects expression 19483382
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000138 Acidosis Ammonium Chloride 3.7118287403
MESH:D055371 Acute Lung Injury pirinixic acid 3.2318653653
MESH:D018248 Adenoma, Liver Cell pirinixic acid 3.6316434500
MESH:D001145 Arrhythmias, Cardiac Amiodarone 3.9018218290 18057881 20041841
MESH:D001281 Atrial Fibrillation Amiodarone 3.9818651412 19698954
MESH:D001778 Blood Coagulation Disorders Amiodarone 53.0919483382
MESH:D001778 Blood Coagulation Disorders Benzbromarone 53.0919483382
MESH:D001778 Blood Coagulation Disorders Clofibrate 53.0919483382
MESH:D001778 Blood Coagulation Disorders Ethionine 53.0919483382
MESH:D001778 Blood Coagulation Disorders Omeprazole 53.0919483382
MESH:D001778 Blood Coagulation Disorders pirinixic acid 53.0919483382
MESH:D001778 Blood Coagulation Disorders Propylthiouracil 53.0919483382
MESH:D001778 Blood Coagulation Disorders Thioacetamide 53.0919483382
MESH:D002252 Carbon Tetrachloride Poisoning Carbon Tetrachloride 3.9216227642 16192424 15673190 18705752 15700767 16050911 15721981 16124888 16097048 10355542 16011737 3786805
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 9.0716705839
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 9.0716705839
MESH:D006528 Carcinoma, Hepatocellular Benzbromarone 9.071701930
MESH:D006528 Carcinoma, Hepatocellular Carbon Tetrachloride 9.0718788625
MESH:D006528 Carcinoma, Hepatocellular Thioacetamide 9.0717997003
MESH:D002311 Cardiomyopathy, Dilated Amiodarone 2.9215710769 19225199
MESH:D002341 Carotid Artery Thrombosis Amiodarone 5.2418974383
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 7.196135515
MESH:D002471 Cell Transformation, Neoplastic Clofibrate 7.191399818
MESH:D002637 Chest Pain Omeprazole 5.2815447763
MESH:D018281 Cholangiocarcinoma Thioacetamide 4.3918291259
MESH:D002779 Cholestasis pirinixic acid 2.9119176532
MESH:D003093 Colitis, Ulcerative marker/mechanism
MESH:D003490 Cyanosis 2,4-dinitrotoluene 11.3618551238
MESH:D003490 Cyanosis 2,6-dinitrotoluene 11.3618551238
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.4718249437
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 12.3721346803 18551238
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 12.3718551238 21346803
MESH:D056486 Drug-Induced Liver Injury Amiodarone 12.3715265979 18218290
MESH:D056486 Drug-Induced Liver Injury Carbon Tetrachloride 12.377440962 3732212 9327722 3786805 16177239 7120509 2869522 19336974 10092053 6623471 16227642 7179309 10915739 11566570 21278145 15968718 6884620 15027814 19085960 15998439 17522070 4309450
MESH:D056486 Drug-Induced Liver Injury Thioacetamide 12.3712963478
MESH:D004381 Duodenal Ulcer Omeprazole 4.4517151854 16613094 15991576 21218061
MESH:D050171 Dyslipidemias Clofibrate 4.1416707586
MESH:D004487 Edema pirinixic acid 2.5912083418
MESH:D005218 Fat Necrosis Thioacetamide 5.8916456712
MESH:D005234 Fatty Liver Amiodarone 19.7614986274
MESH:D005234 Fatty Liver Carbon Tetrachloride 19.7619224547 15959796 16239168 61145 17595544 12795759 16045604 12631006
MESH:D005234 Fatty Liver Clofibrate 19.7619224547
MESH:D005234 Fatty Liver pirinixic acid 19.7620131406 19236843
MESH:D005355 Fibrosis Carbon Tetrachloride 3.5918705752
MESH:D006333 Heart Failure pirinixic acid 2.6020558911
MESH:D006501 Hepatic Encephalopathy Thioacetamide 4.6817276928 18665440 15929193
MESH:D006505 Hepatitis Carbon Tetrachloride 9.9119110552 19900420
MESH:D006505 Hepatitis Thioacetamide 9.9116456712
MESH:D006529 Hepatomegaly Amiodarone 9.0415265979
MESH:D006529 Hepatomegaly pirinixic acid 9.0418467677 16221962 19176532 19772884
MESH:D006932 Hyperbilirubinemia Carbon Tetrachloride 4.6916899240
MESH:D006937 Hypercholesterolemia Amiodarone 3.988137927 9751232
MESH:D006943 Hyperglycemia pirinixic acid 3.2920558911
MESH:D006975 Hypertension, Portal Carbon Tetrachloride 4.2315338365
MESH:D007037 Hypothyroidism Amiodarone 12.0817991464 18020914
MESH:D007037 Hypothyroidism Propylthiouracil 12.0818031379 8137927
MESH:D007333 Insulin Resistance pirinixic acid 2.7016306350
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 7.6716705839
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 7.6716705839
MESH:D016773 Leishmaniasis, Cutaneous Omeprazole 4.1919248655
MESH:D008064 Lipidoses Amiodarone 3.5915342952 17567588
MESH:D008103 Liver Cirrhosis Carbon Tetrachloride 2.8616943688 17174718 11408273 11903743 17334410 16221502 21278145 16239168 17157831
MESH:D008106 Liver Cirrhosis, Experimental Carbon Tetrachloride 3.6012609069 16015684 16097048 12632514 17766677 15338365 18263696 17525996 16027843 18251166 18205269 17869086 15123356 17823541 18166357 14512876 15931870 18472332 18481824 17708605 16033810 17805973 15052691 15673190 18705752 14620537 17976157 18277467 17721639 17698563 17944888 17922224 18317297 18472094 15959796 12666154 12632512 18006644 15057751 17640975 17631135 18376398 16192424 15876570 17565644 17714472 17900296 18418968 10355542 17557913 15996030 16638106 18279442 18412020 14716833 12898905 12741479 17481882 14724832 12445418 18420326 15925388 18429990 18156304 15893842 18210741 15650968 16248980 16011737 15370692 18395095 12649538 12586293 17761835 20821823 15818738 16116963 14716496 18339082 12546737 18187930 12445421 11481614 18054572 15362042 12389079 13678700 14748882 12958196 16136751 18395914 12667390 15730626
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 3.6015474484
MESH:D008106 Liver Cirrhosis, Experimental Thioacetamide 3.6012085344 17127702 15316131 18263696 15158331 11481614 15716488 12679928 15078482 15362042 17355460 14739098 16097051 17050028 18380797 18615449 16126171 18395095 15474484 12175628 10677585 12557150 18458672 15288473 11172339 17629604 18295389 15075984 16343077 12531686 17292413 15465738 18031379 15334695 15288472 16511523 18606216 16489207 12891558 16098781 15095483 18416461 11682029 18032466 16248980
MESH:D008107 Liver Diseases Carbon Tetrachloride 4.3816964402 15830285 16246199 17285989 15720792
MESH:D008107 Liver Diseases Thioacetamide 4.3818374380 16337175 15158337
MESH:D017093 Liver Failure Carbon Tetrachloride 4.3015123358
MESH:D017114 Liver Failure, Acute Carbon Tetrachloride 10.1514706259 16899240
MESH:D017114 Liver Failure, Acute Thioacetamide 10.1515633222 12479984 15313186 17276928
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 7.627678174
MESH:D008113 Liver Neoplasms Carbon Tetrachloride 7.6219294768
MESH:D008113 Liver Neoplasms pirinixic acid 7.6216377806 20007298 15890375
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 6.146135515 2876784 2876786
MESH:D008114 Liver Neoplasms, Experimental Carbon Tetrachloride 6.1412014681 15583823
MESH:D008133 Long QT Syndrome Amiodarone 3.6615350150 11989578 17391786
MESH:D008171 Lung Diseases Amiodarone 3.4412587719
MESH:D017563 Lung Diseases, Interstitial Amiodarone 4.6518516814
MESH:D009135 Muscular Diseases pirinixic acid 3.6416239165
MESH:D009181 Mycoses Amiodarone 5.0817974566 12754197
MESH:D009203 Myocardial Infarction pirinixic acid 2.1819151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.0316411023
MESH:D009336 Necrosis 2,4-dinitrotoluene 10.8718551238
MESH:D009336 Necrosis 2,6-dinitrotoluene 10.8718551238 7678174
MESH:D009369 Neoplasms pirinixic acid 1.9917405874
MESH:D052556 Niemann-Pick Disease, Type C Clofibrate 5.089802331
MESH:D009765 Obesity pirinixic acid 1.8420558911
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 9.2316049721 12819281
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 9.2316049721
MESH:D011658 Pulmonary Fibrosis marker/mechanism
MESH:D011658 Pulmonary Fibrosis Amiodarone 2.8911597910 12490602 12832656
MESH:D015427 Reperfusion Injury pirinixic acid 2.4319058328
MESH:D012640 Seizures 2,4-dinitrotoluene 6.1118551238
MESH:D012640 Seizures 2,6-dinitrotoluene 6.1118551238
OMIM:609620 SHORT QT SYNDROME 1 Amiodarone 5.2418724381
MESH:D013272 Stomach Diseases Omeprazole 4.7618545984
MESH:D013276 Stomach Ulcer Amiodarone 7.9418087811
MESH:D013276 Stomach Ulcer Omeprazole 7.9410750652 18237397 16755016 17977527 11906479 15991576
MESH:D013610 Tachycardia Amiodarone 4.4211238279
MESH:D017180 Tachycardia, Ventricular Amiodarone 4.3219225199
MESH:D013959 Thyroid Diseases Amiodarone 4.9319731979
MESH:D013964 Thyroid Neoplasms Propylthiouracil 3.7615710170
MESH:D013971 Thyrotoxicosis Amiodarone 5.0018020914 19584973
MESH:D016171 Torsades de Pointes Amiodarone 4.3417467628 11989578
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 5.1416049721
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 5.1416049721
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 12.5110091137
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 12.5110091137
Pathway ID Pathway Name
KEGG:04610 Complement and coagulation cascades
REACT:6900 Signaling in Immune system
KEGG:05150 Staphylococcus aureus infection
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA30645
    • No data
    No data
    Releated drug ID Related drug Name
    PA450287magnesium
    Drug Bank Top
    Drugbank ID Action Drug Name Description
    DB04527 - Beta-Hydroxyasparagine
    No data
    No data
    No data

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    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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