AutismKB 2.0

Annotation Detail for C2


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:C2 ( CO2,DKFZp779M0311 )
Gene Full Name: complement component 2
Band: 6p21.33
Quick LinksEntrez ID:717; OMIM: 217000; Uniprot ID:CO2_HUMAN; ENSEMBL ID: ENSG00000166278; HGNC ID: 1248
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa05322Systemic lupus erythematosus
hsa05150Staphylococcus aureus infection
hsa04610Complement and coagulation cascades
Pathway IDPathway Name
Signaling in Immune system
No data
No data
Pathway IDPathway Name
500470Initial triggering of complement
Related Diseases/Disorders Top
Desease IDDesease Name
H00080Systemic lupus erythematosus
Immune system diseases
Primary immunodeficiency
Allergies and autoimmune diseases
H00102Classic complement pathway component defects
Desease IDDesease Name
1822Infectious lung disease
1840Macular degeneration
Desease Name
HEMATOLOGICAL
Pneumonia, Ventilator-Associated
Macular Degeneration
Cross Infection
Wounds and Injuries
VISION
C2-deficiency gene
INFECTION
Desease Name
Age-related macular degeneration
Desease Name
Macular degeneration, age-related, reduced risk of
C2 deficiency
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane results in increased expression of C2 mRNAincreases expression 18648102
D000082 Acetaminophen Acetaminophen affects the expression of C2 mRNAaffects expression 17562736
D016604 Aflatoxin B1 Aflatoxin B1 affects the expression of C2 proteinaffects expression 20106945
D016572 Cyclosporine Cyclosporine results in decreased expression of C2 mRNAdecreases expression 20106945
D004041 Dietary Fats Dietary Fats results in decreased expression of C2 mRNAdecreases expression 18042831
15238619
D004958 Estradiol Estradiol affects the expression of C2 mRNAaffects expression 15598610
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of C2 mRNAincreases expression 17557909
16174780
D009151 Mustard Gas Mustard Gas results in increased expression of C2 mRNAincreases expression 18988085
C041786 palm oil palm oil results in decreased expression of C2 mRNAdecreases expression 18042831
C023036 perfluorooctanoic acid perfluorooctanoic acid results in decreased expression of C2 mRNAdecreases expression 18467677
C023036 perfluorooctanoic acid PPARA protein promotes the reaction [perfluorooctanoic acid results in decreased expression of C2 mRNA]decreases expression|increases reaction 18467677
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of C2 mRNAaffects binding|decreases expression|increases activity 19710929
C006253 pirinixic acid pirinixic acid results in decreased expression of C2 mRNAdecreases expression 17426115
17950772
20059764
18467677
C006253 pirinixic acid PPARA protein promotes the reaction [pirinixic acid results in decreased expression of C2 mRNA]decreases expression|increases reaction 18467677
20059764
17950772
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of C2 mRNAincreases expression 20106945
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of C2 mRNAdecreases expression 15703262
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of C2 mRNAincreases expression 15703262
16267337
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.0011752688 14514962 15322242
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.1217505938
MESH:D055371 Acute Lung Injury pirinixic acid 3.2318653653
MESH:D000230 Adenocarcinoma Estradiol 4.3011473722
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 4.3014692618
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 2.813712494
MESH:D018248 Adenoma, Liver Cell pirinixic acid 10.4216434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 10.4216835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.0511748828
MESH:D000799 Angioedema Acetaminophen 4.0210982225
MESH:D001161 Arteriosclerosis Dietary Fats 10.3815238619
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 10.3811256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.7315885639
MESH:D001249 Asthma Mustard Gas 2.7410378619
MESH:D001321 Autistic Disorder Acetaminophen 1.4118445737
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 5.1911289319 1440618
MESH:D001768 Blister Mustard Gas 5.3119167455
MESH:D001778 Blood Coagulation Disorders pirinixic acid 9.1419483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 9.1412125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 3.9615340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.8315746008
MESH:D001943 Breast Neoplasms Dietary Fats 1.8220435547
MESH:D001943 Breast Neoplasms Estradiol 1.8218497071 12948864 17018787 17289903 19861407 14630087 16675129 17261762
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.8220435547
MESH:D001989 Bronchiolitis Obliterans Mustard Gas 5.3115286001
MESH:D029481 Bronchitis, Chronic Mustard Gas 5.1517687719 10378619
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 4.6216111702
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.8916835633
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 6.683581430 7296757
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 6.683084413
MESH:D006528 Carcinoma, Hepatocellular Aflatoxin B1 6.6821507988 12619106 12907637
MESH:D006528 Carcinoma, Hepatocellular Estradiol 6.6816924424
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 2.727296757
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4218850075 18670907 16120746
MESH:D002386 Cataract Acetaminophen 2.6410977129
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 11.587505956
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 11.5812371664
MESH:D002471 Cell Transformation, Neoplastic Estradiol 11.5818566989
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.2616835633
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 19.9019486331 9022650
MESH:D002779 Cholestasis Cyclosporine 19.9019486331
MESH:D002779 Cholestasis Ethinyl Estradiol 19.9016105132 11677210 17681005 16919318 17110522 17333356 15861022
MESH:D002779 Cholestasis pirinixic acid 19.9019176532
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1415668235 8697196 15340226 16354765 12621046
OMIM:217000 COMPLEMENT COMPONENT 2 DEFICIENCY marker/mechanism
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.1617141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2620055451 10048152 15322242
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 2.9414531868 18759878 11906362 8156756 8970840 12868966 11298694 2524372
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.4718249437
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 3.613621924 2952479
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.6917107852
MESH:D003928 Diabetic Nephropathies Estradiol 3.5119279558
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 6.296679447 9328219 16192314 18648102 9653073 11289319 7440962 6482804 9022650 18289764 8291058 18692083 1440618
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 6.2915619225 12958197 2444490 12705907 19370779 19739265 10774834 15968718 16485898 11421492 17562736 17522070 19923254 19416960 12392966 11461765 12594235 16781746 16081117 14725611 16177239 16227642 19420014 11834606 19164858 19085960 16393943 14986274 16109766 12540782 10663392 18071297 12153990 10915739 17906064 11739529 14550746 11529661 11287661 18713872 11743745
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 6.2920420201
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.2719426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.8411462148
MESH:D050171 Dyslipidemias Dietary Fats 3.5318367378
MESH:D004487 Edema Mustard Gas 17.409260866 11428631 11428647 11402378
MESH:D004487 Edema perfluorooctanoic acid 17.4017259670 12083418
MESH:D004487 Edema pirinixic acid 17.4012083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 17.4011000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.0815322242 16714409 18230668
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.3112538720
MESH:D016889 Endometrial Neoplasms Estradiol 3.0519148513 18566989 11473722
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.1210568697 9294722
MESH:D004890 Erythema Mustard Gas 5.319357497
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 2.133581430
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.0911564622
MESH:D005234 Fatty Liver Cyclosporine 19.6819224547
MESH:D005234 Fatty Liver Dietary Fats 19.6818296743 17967931 19004024 19551842
MESH:D005234 Fatty Liver Ethinyl Estradiol 19.6815345470
MESH:D005234 Fatty Liver pirinixic acid 19.6820131406 19236843
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.5911858732
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 5.196705139
MESH:D005355 Fibrosis Cyclosporine 15.5612639820 12168785
MESH:D005355 Fibrosis Dietary Fats 15.5618296743
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 15.5620067830
MESH:D005756 Gastritis Acetaminophen 3.8516983495
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.378708960
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.157505956
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.7710696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.3810048152 11294989
MESH:D006333 Heart Failure pirinixic acid 2.6020558911
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.5815720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.4411000095
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 3.646705139
MESH:D006529 Hepatomegaly perfluorooctanoic acid 15.303609246
MESH:D006529 Hepatomegaly pirinixic acid 15.3019772884 18467677 19176532 16221962
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 15.3015340226 16120746 12621046
MESH:D006558 Herpes Genitalis Estradiol 5.2115709030
MESH:D019584 Hot Flashes Estradiol 3.9317088409
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.2216354765 15340226 8697196 18606429 16959395
MESH:D006930 Hyperalgesia Acetaminophen 8.1516870215
MESH:D006930 Hyperalgesia perfluorooctanoic acid 8.1512083418
MESH:D006937 Hypercholesterolemia Dietary Fats 3.7021332399
MESH:D006943 Hyperglycemia pirinixic acid 3.2920558911
MESH:D006949 Hyperlipidemias Dietary Fats 3.7321332399
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 4.0815034207
MESH:D006973 Hypertension Cyclosporine 5.0710903974
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 5.0718670907 18850075
MESH:D007021 Hypospadias Ethinyl Estradiol 3.9516945680 16569931
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.5812013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.5617937319
MESH:D007249 Inflammation Dietary Fats 12.4620412841
MESH:D007249 Inflammation Mustard Gas 12.4611402378 11428620 11428631 9260866 9357497 8975870 11428647 17524151 16001271
MESH:D007249 Inflammation perfluorooctanoic acid 12.4612083418
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 12.4612878042 12200463
MESH:D007333 Insulin Resistance Dietary Fats 12.7011836018 18457598
MESH:D007333 Insulin Resistance Estradiol 12.7016393666 16627594
MESH:D007333 Insulin Resistance pirinixic acid 12.7016306350
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 5.198074119 9022650
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.4416580747
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.6215604871
MESH:D007674 Kidney Diseases Acetaminophen 10.3315629191 12587719
MESH:D007674 Kidney Diseases Cyclosporine 10.3318776723 10903974 8314463
MESH:D007674 Kidney Diseases Estradiol 10.3315618244
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 12.916582329
MESH:D007680 Kidney Neoplasms Cyclosporine 12.9112371664
MESH:D007680 Kidney Neoplasms Estradiol 12.9115610895
MESH:D007984 Leydig Cell Tumor perfluorooctanoic acid 5.388812269
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 3.4414659978 14716833
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 3.4415474484
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 3.4412878042
MESH:D008107 Liver Diseases Acetaminophen 1.6516610002 12587719 19784758 11587558 12969438 16611625 19460945 19014921
MESH:D017114 Liver Failure, Acute Acetaminophen 3.3416871587 17185352
MESH:D008113 Liver Neoplasms Aflatoxin B1 11.039163691 15890375 2125692 18177683
MESH:D008113 Liver Neoplasms perfluorooctanoic acid 11.0318709148 14757943
MESH:D008113 Liver Neoplasms pirinixic acid 11.0315890375 20007298 16377806
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 11.0316984957
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 10.196587162 1399818 3712494 598648
MESH:D008114 Liver Neoplasms, Experimental Aflatoxin B1 10.198603461
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 10.1912151625
MESH:D008171 Lung Diseases Mustard Gas 3.5218702808 18161513
MESH:D008175 Lung Neoplasms Aflatoxin B1 3.5014755239
MESH:D008175 Lung Neoplasms Mustard Gas 3.503148597 8781369
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 3.5011884234 19555203
MESH:D008268 Macular Degeneration marker/mechanism 16518403
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 2.6211807958 17203775 16891317 11408345
MESH:D020149 Manganese Poisoning Estradiol 4.6619453300
MESH:D008546 Melanoma, Experimental Acetaminophen 3.7119513568
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 4.9616801185
MESH:D009135 Muscular Diseases pirinixic acid 3.6416239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.1819151258
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.1112213967
MESH:D015428 Myocardial Reperfusion Injury Estradiol 8.5316810080
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 8.5316411023
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 2.513581430
MESH:D009369 Neoplasms pirinixic acid 1.9917405874
MESH:D009389 Neovascularization, Pathologic Estradiol 3.8917289903
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.6217954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.3818481113 19348381
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 2.986679447
MESH:D019636 Neurodegenerative Diseases Acetaminophen 2.9618514411
MESH:D009503 Neutropenia Mustard Gas 4.0916761898 7688884
MESH:D052556 Niemann-Pick Disease, Type C perfluorooctanoic acid 5.099802331
MESH:D009765 Obesity Dietary Fats 4.5220132043 17217161 18457598 19632207 16723640 21332399 11836018 18674790 20518802
MESH:D009765 Obesity pirinixic acid 4.5220558911
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 3.526482804 4026338
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 5.193988306
MESH:D010051 Ovarian Neoplasms Estradiol 2.2519401270
MESH:D010146 Pain Acetaminophen 2.4816870215
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.8011578682
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 3.627296757
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.4212520081
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 4.646228378
MESH:D011041 Poisoning Mustard Gas 3.9115727166
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.6918163543
MESH:D011230 Precancerous Conditions Cyclosporine 3.3212371664
MESH:D011297 Prenatal Exposure Delayed Effects perfluorooctanoic acid 10.1917132714
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 10.1911399792 11118676 11222880 11896295
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 3.9920887781
MESH:D011471 Prostatic Neoplasms Estradiol 3.0716740699
MESH:D011537 Pruritus Ethinyl Estradiol 10.0515861022 16919318
MESH:D011537 Pruritus Mustard Gas 10.0518058305
MESH:D011565 Psoriasis Cyclosporine 2.2616882103
MESH:D011658 Pulmonary Fibrosis Mustard Gas 2.9617720292 10334151 17620002 17266442 17894541
MESH:D015427 Reperfusion Injury pirinixic acid 2.4319058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 3.9618990726
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.463692021
MESH:D012871 Skin Diseases Mustard Gas 2.7416961503 15451306 12880345
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.0916192470
MESH:D013088 Spermatocele Ethinyl Estradiol 4.1216709447
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.7411994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.2515669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.0812697716
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 2.976587162 6582329 7505956 3712494 1399818
MESH:D013978 Tibial Fractures Estradiol 4.8619048282
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 2.318074119
MESH:D014581 Urticaria Acetaminophen 3.0910982225
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.4214692618
MESH:D014605 Uveitis Cyclosporine 4.161336536
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.7712125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.6515869587 14671159
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.4215886252
MESH:D015430 Weight Gain Dietary Fats 3.8316723640
MESH:D014985 Xerophthalmia Cyclosporine 4.6217120751
Pathway ID Pathway Name
KEGG:04610 Complement and coagulation cascades
REACT:6900 Signaling in Immune system
KEGG:05150 Staphylococcus aureus infection
KEGG:05322 Systemic lupus erythematosus
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA25637
    • No data
    No data
    Releated drug ID Related drug Name
    PA450287magnesium
    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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