AutismKB 2.0

Annotation Detail for CIITA


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Basic Information Top
Gene Symbol:CIITA ( C2TA,CIITAIV,MHC2TA,NLRA )
Gene Full Name: class II, major histocompatibility complex, transactivator
Band: 16p13.13
Quick LinksEntrez ID:4261; OMIM: 600005; Uniprot ID:C2TA_HUMAN; ENSEMBL ID: ENSG00000179583; HGNC ID: 7067
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa05145Toxoplasmosis
hsa05340Primary immunodeficiency
hsa04612Antigen processing and presentation
No data
No data
No data
No data
Related Diseases/Disorders Top
Desease IDDesease Name
H00093Combined immunodeficiencies
Immune system diseases
Primary immunodeficiency
Desease IDDesease Name
1707Multiple myeloma
1712Yersinia infection
1767Immunologic deficiency syndrome
1807Autoimmune disease
1829Gastrointestinal cancer
2051Leukemia
2099Hepatitis B
2146Lupus erythematosus
2200Intraocular melanoma
Desease Name
Celiac Disease
multiple sclerosis rheumatoid arthritis
ulcerative colitis
IMMUNE
autoimmune inflammatory disease
Addison's disease
Desease Name
Celiac disease
Ulcerative colitis
Desease Name
Bare lymphocyte syndrome, type II, complementation group A
Rheumatoid arthritis, susceptibility to
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C054649 3-(2-hydroxy-4-(1,1-dimethylheptyl)phenyl)-4-(3-hydroxypropyl)cyclohexanol 3-(2-hydroxy-4-(1,1-dimethylheptyl)phenyl)-4-(3-hydroxypropyl)cyclohexanol inhibits the reaction [IFNG protein results in increased expression of CIITA mRNA]decreases reaction|increases expression 14757364
C103303 alitretinoin alitretinoin results in increased expression of CIITA mRNAincreases expression 17229644
C061133 Am 80 Am 80 results in increased expression of CIITA mRNAincreases expression 17229644
D000643 Ammonium Chloride Ammonium Chloride affects the expression of CIITA mRNAaffects expression 16483693
C006632 arsenic trioxide arsenic trioxide results in decreased expression of CIITA mRNAdecreases expression 20458559
D001374 Azacitidine [Azacitidine promotes the reaction [IFNG protein results in increased expression of CIITA mRNA]] which results in increased expression of HLA-DRA proteinincreases expression|increases reaction 18829986
D001374 Azacitidine [Azacitidine results in decreased methylation of CIITA promoter] promotes the reaction [IFNG protein results in increased expression of CIITA mRNA]decreases methylation|increases expression|increases reaction 18829986
C014347 decitabine decitabine promotes the reaction [IFNG protein results in increased expression of CIITA mRNA]increases expression|increases reaction 16650406
C006253 pirinixic acid pirinixic acid results in decreased expression of CIITA mRNAdecreases expression 17426115
D014212 Tretinoin Tretinoin results in increased expression of CIITA mRNAincreases expression 17229644
D015032 Zinc Zinc affects the expression of CIITA mRNAaffects expression 16979875
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000138 Acidosis Ammonium Chloride 3.8018287403
MESH:D000169 Acrodermatitis Zinc 5.6416889938 17190629 17202136
MESH:D055371 Acute Lung Injury pirinixic acid 3.3018653653
MESH:D000224 Addison Disease marker/mechanism 18593762
MESH:D000230 Adenocarcinoma arsenic trioxide 2.3219825857 11798837
MESH:D018248 Adenoma, Liver Cell pirinixic acid 3.7216434500
MESH:D000505 Alopecia Tretinoin 3.7515955085
MESH:D000544 Alzheimer Disease Zinc 2.7916325427 16580781 17119284 16410023
MESH:D000755 Anemia, Sickle Cell Zinc 5.1016916123
MESH:D001169 Arthritis, Experimental Tretinoin 3.1816412693
MESH:D001172 Arthritis, Rheumatoid marker/mechanism
MESH:D001172 Arthritis, Rheumatoid Am 80 5.2316819260
MESH:D001172 Arthritis, Rheumatoid Tretinoin 5.2316292516
MESH:D001249 Asthma Tretinoin 5.2216456186
MESH:D001249 Asthma Zinc 5.2217085522
MESH:D050197 Atherosclerosis Am 80 4.4316484594
MESH:C537079 Bare lymphocyte syndrome 2 marker/mechanism
MESH:D001471 Barrett Esophagus Tretinoin 4.6016935849
MESH:D001778 Blood Coagulation Disorders arsenic trioxide 16.3916206674
MESH:D001778 Blood Coagulation Disorders pirinixic acid 16.3919483382
MESH:D001778 Blood Coagulation Disorders Tretinoin 16.3916197459 16206674
MESH:D001930 Brain Injuries Zinc 4.9017109824
MESH:D001943 Breast Neoplasms alitretinoin 2.0716344269
MESH:D001943 Breast Neoplasms decitabine 2.0719208741 18320071
MESH:D001943 Breast Neoplasms Tretinoin 2.0716166294 16443354 16873071
MESH:D001997 Bronchopulmonary Dysplasia Tretinoin 4.8316813970
MESH:D002051 Burkitt Lymphoma arsenic trioxide 4.5111589617
MESH:D018236 Carcinoma, Embryonal Tretinoin 5.4216168501
MESH:D006528 Carcinoma, Hepatocellular arsenic trioxide 3.1511135700 14691202 15553829 16217749 15073043
MESH:D006528 Carcinoma, Hepatocellular Tretinoin 3.151917145
MESH:D002291 Carcinoma, Papillary arsenic trioxide 5.1419014326
MESH:D018288 Carcinoma, Small Cell arsenic trioxide 4.2812490120
MESH:D002294 Carcinoma, Squamous Cell decitabine 7.9119215824
MESH:D002294 Carcinoma, Squamous Cell Tretinoin 7.9116051514 16096774
MESH:D002294 Carcinoma, Squamous Cell Zinc 7.9116543248
MESH:D002318 Cardiovascular Diseases Zinc 3.7716936243
MESH:D002386 Cataract Tretinoin 3.1917460283
MESH:D018290 Cervical Intraepithelial Neoplasia Tretinoin 4.8316129372
MESH:D002779 Cholestasis pirinixic acid 2.9519176532
MESH:D002822 Choriocarcinoma Tretinoin 5.4216461808
MESH:D002972 Cleft Palate Tretinoin 2.739407595
MESH:D003092 Colitis Tretinoin 3.9217035595
MESH:D003110 Colonic Neoplasms decitabine 2.3617616700
MESH:D015179 Colorectal Neoplasms arsenic trioxide 3.6420501625
MESH:D015179 Colorectal Neoplasms Azacitidine 3.6419934284
MESH:D015179 Colorectal Neoplasms decitabine 3.6418981723
MESH:D023903 Coronary Restenosis arsenic trioxide 4.3812609071
MESH:D019465 Craniofacial Abnormalities arsenic trioxide 4.0110525206
MESH:D019465 Craniofacial Abnormalities Tretinoin 4.0114991402 9211117 9664655 9224671 9125849 16925845 17551590 9142499 8800419 10589399
MESH:D019465 Craniofacial Abnormalities Zinc 4.0119302082
MESH:D016757 Death, Sudden, Cardiac arsenic trioxide 4.2815213294
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.4918249437
MESH:D003920 Diabetes Mellitus Zinc 4.3616479319
MESH:D003967 Diarrhea 3-(2-hydroxy-4-(1,1-dimethylheptyl)phenyl)-4-(3-hydroxypropyl)cyclohexanol 5.0810611417
MESH:D004487 Edema pirinixic acid 2.6512083418
MESH:D004489 Edema, Cardiac Tretinoin 4.7318230668
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Am 80 5.2916819260
MESH:D004701 Endocrine Gland Neoplasms decitabine 5.3819294695
MESH:D016889 Endometrial Neoplasms Tretinoin 3.2116569247
MESH:D004938 Esophageal Neoplasms arsenic trioxide 4.8812903497
MESH:D004938 Esophageal Neoplasms Zinc 4.8816543248
MESH:D005124 Eye Abnormalities Tretinoin 3.7016938888 9664655
MESH:D005234 Fatty Liver arsenic trioxide 8.3015073043
MESH:D005234 Fatty Liver pirinixic acid 8.3020131406 19236843
MESH:D005355 Fibrosis Tretinoin 3.7317994277
MESH:D005706 Gallbladder Neoplasms arsenic trioxide 4.4616904648
MESH:D005756 Gastritis Zinc 5.0617241300
MESH:D005909 Glioblastoma Tretinoin 3.1117312396
MESH:D006130 Growth Disorders Zinc 4.0717217573
MESH:D006258 Head and Neck Neoplasms decitabine 8.2019215824
MESH:D006258 Head and Neck Neoplasms Tretinoin 8.2016096774
MESH:D006317 Hearing Loss, Noise-Induced Tretinoin 5.4216084493
MESH:D006330 Heart Defects, Congenital Tretinoin 2.9814991402 9664655
MESH:D006333 Heart Failure pirinixic acid 7.4820558911
MESH:D006333 Heart Failure Zinc 7.4817162251
MESH:D006335 Heart Injuries Zinc 6.0317074742
MESH:D016481 Helicobacter Infections Zinc 4.7217241300
MESH:D006527 Hepatolenticular Degeneration Zinc 4.9017276780
MESH:D006529 Hepatomegaly pirinixic acid 3.2119772884 16221962 19176532 18467677
MESH:D006930 Hyperalgesia Tretinoin 3.3516870215
MESH:D017681 Hypereosinophilic Syndrome Tretinoin 4.7816778211
MESH:D006943 Hyperglycemia pirinixic acid 3.3420558911
MESH:D007248 Infertility, Male decitabine 3.3117581917
MESH:D007333 Insulin Resistance pirinixic acid 2.7416306350
MESH:D007410 Intestinal Diseases Tretinoin 3.9817994277
MESH:D007511 Ischemia Zinc 4.8516584753
MESH:D007569 Jaw Abnormalities Tretinoin 4.0715992940 17551590
MESH:D017492 Keratosis, Seborrheic alitretinoin 5.8716144296
MESH:D007674 Kidney Diseases Zinc 3.4116960431
MESH:D007676 Kidney Failure, Chronic Zinc 4.5916518626
MESH:D007938 Leukemia arsenic trioxide 15.6615070760
MESH:D007938 Leukemia Azacitidine 15.6619148494
MESH:D007938 Leukemia decitabine 15.6619235587 18980019
MESH:D007938 Leukemia Tretinoin 15.6617143497
MESH:D015459 Leukemia-Lymphoma, Adult T-Cell arsenic trioxide 3.9717077332 12560223
MESH:D007948 Leukemia, Monocytic, Acute arsenic trioxide 4.5416972261
MESH:D015464 Leukemia, Myelogenous, Chronic, BCR-ABL Positive arsenic trioxide 3.5514633726
MESH:D007951 Leukemia, Myeloid arsenic trioxide 24.3419077051
MESH:D007951 Leukemia, Myeloid Azacitidine 24.3419077051
MESH:D007951 Leukemia, Myeloid decitabine 24.3417236224 18454857 19117987
MESH:D007951 Leukemia, Myeloid Tretinoin 24.3416482212 16932348 19285840
MESH:D015470 Leukemia, Myeloid, Acute arsenic trioxide 9.0520471514 17050201 16467208 19850784 16968895
MESH:D015470 Leukemia, Myeloid, Acute Azacitidine 9.0517596541 18720364
MESH:D015470 Leukemia, Myeloid, Acute decitabine 9.0518460780 18704418 17679729 18206229 19010910 19387464
MESH:D015470 Leukemia, Myeloid, Acute Tretinoin 9.0519850784 16294345 17596541
MESH:D015477 Leukemia, Myelomonocytic, Chronic decitabine 5.7318055864
MESH:D054429 Leukemia, Myelomonocytic, Juvenile Azacitidine 5.3719299654
MESH:D015473 Leukemia, Promyelocytic, Acute Am 80 13.5616819260 16531727
MESH:D015473 Leukemia, Promyelocytic, Acute arsenic trioxide 13.5616331271 16112521 16330433 19642359 17712046 19035177 17869043 16823087 15622746 17649720 15336539 17107899 9834237 11468182 15748426 12712474 12679006 15213294 12018890 19075265 17217047 11161223 19225113 16966277 16891316
MESH:D015473 Leukemia, Promyelocytic, Acute Tretinoin 13.5617217047 17506722 19225113 12679006 16140955 16891316 17368321 19075265 16331271 16788101 16766008 16823087 17301526 17294898 19029980 17649720 17339181 17107899 16935935 17712046 15748426 17361223 19035177 9834237 19642359
MESH:D015458 Leukemia, T-Cell arsenic trioxide 4.5516882451
MESH:D017880 Limb Deformities, Congenital Tretinoin 3.439224671
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 2.3915474484
MESH:D008106 Liver Cirrhosis, Experimental Tretinoin 2.3918397230 16248980
MESH:D008113 Liver Neoplasms arsenic trioxide 4.6714682389
MESH:D008113 Liver Neoplasms pirinixic acid 4.6720007298 15890375 16377806
MESH:D008114 Liver Neoplasms, Experimental arsenic trioxide 2.8320377131
MESH:D008133 Long QT Syndrome arsenic trioxide 3.4815213294
MESH:D008175 Lung Neoplasms alitretinoin 3.8016413115
MESH:D008175 Lung Neoplasms arsenic trioxide 3.8019825857 11798837
MESH:D008175 Lung Neoplasms Azacitidine 3.8021224363
MESH:D008223 Lymphoma decitabine 3.5419470736
MESH:D008325 Mammary Neoplasms, Experimental Zinc 3.4012773700
MESH:D008527 Medulloblastoma Tretinoin 2.8417453147
MESH:D008545 Melanoma decitabine 3.5016505122 17785578
MESH:D008545 Melanoma Tretinoin 3.5016752155
MESH:D008591 Meningomyelocele Tretinoin 4.6416940565
MESH:D009006 Monosomy Azacitidine 6.3519299654
MESH:D009101 Multiple Myeloma Am 80 18.4017229644
MESH:D009101 Multiple Myeloma arsenic trioxide 18.4014977855 15949261 19417148 19549372 11468182
MESH:D009101 Multiple Myeloma Azacitidine 18.4018443271 19549372
MESH:D009101 Multiple Myeloma decitabine 18.4018172295
MESH:D009103 Multiple Sclerosis marker/mechanism
MESH:D009128 Muscle Spasticity 3-(2-hydroxy-4-(1,1-dimethylheptyl)phenyl)-4-(3-hydroxypropyl)cyclohexanol 6.3417220914
MESH:D009135 Muscular Diseases pirinixic acid 3.7216239165
MESH:D009182 Mycosis Fungoides arsenic trioxide 4.9418349030
MESH:D009190 Myelodysplastic Syndromes arsenic trioxide 18.3716105982 16882451
MESH:D009190 Myelodysplastic Syndromes Azacitidine 18.3718720364 17596541 19805378 17611569
MESH:D009190 Myelodysplastic Syndromes decitabine 18.3716882708 18608210 19157545 19010910
MESH:D009190 Myelodysplastic Syndromes Tretinoin 18.3717596541
MESH:D009203 Myocardial Infarction pirinixic acid 2.2019151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.0816411023
MESH:D009361 Neoplasm Invasiveness arsenic trioxide 4.1616624393
MESH:D009369 Neoplasms alitretinoin 12.5716946489
MESH:D009369 Neoplasms decitabine 12.5717925555 19470736 19116145
MESH:D009369 Neoplasms pirinixic acid 12.5717405874
MESH:D009369 Neoplasms Tretinoin 12.5716946489 16594593
MESH:D009421 Nervous System Malformations Tretinoin 3.989125849
MESH:D009436 Neural Tube Defects arsenic trioxide 7.6610525206
MESH:D009436 Neural Tube Defects Tretinoin 7.669142499
MESH:D009765 Obesity pirinixic acid 1.8520558911
MESH:D010051 Ovarian Neoplasms arsenic trioxide 8.2119769630 12452020 16624393
MESH:D010051 Ovarian Neoplasms decitabine 8.2119259094 19331143
MESH:D010051 Ovarian Neoplasms Tretinoin 8.2116936753
MESH:D010146 Pain Tretinoin 3.0416870215
MESH:D010190 Pancreatic Neoplasms arsenic trioxide 8.9815580305
MESH:D010190 Pancreatic Neoplasms decitabine 8.9819294695
MESH:D010190 Pancreatic Neoplasms Tretinoin 8.9815976015
MESH:D010235 Paraganglioma arsenic trioxide 4.3519927285
MESH:D017499 Porokeratosis alitretinoin 6.2716144296
MESH:D011225 Pre-Eclampsia Zinc 4.3117114810
MESH:D055728 Primary Myelofibrosis decitabine 4.9417616702
MESH:D011471 Prostatic Neoplasms Am 80 2.2016289102
MESH:D011471 Prostatic Neoplasms arsenic trioxide 2.2019131511
MESH:D011471 Prostatic Neoplasms Azacitidine 2.2018324645
MESH:D011471 Prostatic Neoplasms Zinc 2.2012429649 16700911 16517595 16606632
MESH:D011507 Proteinuria Tretinoin 3.7916636307
MESH:D011565 Psoriasis Am 80 4.1416819260
MESH:D011625 Pterygium Tretinoin 5.0316723453
MESH:D015427 Reperfusion Injury pirinixic acid 2.4619058328
MESH:D012162 Retinal Degeneration Zinc 4.2516584753
MESH:D012208 Rhabdomyosarcoma decitabine 11.5719155313
MESH:D012208 Rhabdomyosarcoma Tretinoin 11.5716283617 16116481
MESH:D012512 Sarcoma, Ewing's arsenic trioxide 4.1616646077
MESH:D012878 Skin Neoplasms Tretinoin 2.6816467112
MESH:D013274 Stomach Neoplasms arsenic trioxide 3.4917007042
MESH:D013274 Stomach Neoplasms decitabine 3.4919037991
MESH:D013274 Stomach Neoplasms Tretinoin 3.4917261132
MESH:D013964 Thyroid Neoplasms arsenic trioxide 12.8019014326
MESH:D013964 Thyroid Neoplasms decitabine 12.8017967635
MESH:D013964 Thyroid Neoplasms Tretinoin 12.8017045167 16026305
MESH:D014062 Tongue Neoplasms Tretinoin 10.5316051514
MESH:D014062 Tongue Neoplasms Zinc 10.5316543248
MESH:D016171 Torsades de Pointes arsenic trioxide 4.2015213294
MESH:D014376 Tuberculosis Tretinoin 3.3316040207
MESH:D001749 Urinary Bladder Neoplasms arsenic trioxide 5.4420435036 12973940 12845720 11780464
MESH:D001749 Urinary Bladder Neoplasms decitabine 5.4419087683 17616700
MESH:D002583 Uterine Cervical Neoplasms Tretinoin 3.8416129372
MESH:D014604 Uveal Neoplasms decitabine 13.7317785578
MESH:D014604 Uveal Neoplasms Tretinoin 13.7316752155
MESH:D014820 Vitiligo Tretinoin 4.2516761959
MESH:D009396 Wilms Tumor Tretinoin 4.1216287080
Pathway ID Pathway Name
KEGG:04612 Antigen processing and presentation
KEGG:05340 Primary immunodeficiency
REACT:6900 Signaling in Immune system
KEGG:05145 Toxoplasmosis
KEGG:05152 Tuberculosis
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA30795
    • No data
    Releated disease ID Related disease Name
    PA444987Multiple Sclerosis
    No data
    Drug Bank Top

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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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