AutismKB 2.0

Annotation Detail for CD247


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Basic Information Top
Gene Symbol:CD247 ( CD3-ZETA,CD3H,CD3Q,CD3Z,T3Z,TCRZ )
Gene Full Name: CD247 molecule
Band: 1q24.2
Quick LinksEntrez ID:919; OMIM: 186780; Uniprot ID:CD3Z_HUMAN; ENSEMBL ID: ENSG00000198821; HGNC ID: 1677
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04650Natural killer cell mediated cytotoxicity
hsa05142Chagas disease
hsa04660T cell receptor signaling pathway
Pathway IDPathway Name
Signaling in Immune system
HIV Infection
Pathway IDPathway Name
200034IL12-mediated signaling events
200184Downstream signaling in naive CD8+ T cells
200133HIV-1 Nef: Negative effector of Fas and TNF-alpha
200083CXCR4-mediated signaling events
200062TCR signaling in naive CD8+ T cells
200022TCR signaling in naive CD4+ T cells
200197IL12 signaling mediated by STAT4
Pathway IDPathway Name
P00053T cell activation
Pathway IDPathway Name
500755Nef and signal transduction
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1712Yersinia infection
1766Renal Cell cancer
1800Lupus vulgaris
1832Congenital abnormality
1848Embryoma
1865Hyperopia
2025Polyarthritis
1841Stomach cancer
2029Tuberculosis
2146Lupus erythematosus
2147Neurotic disorder
1846Pleural effusion, Malignant
Desease Name
Celiac Disease
IMMUNE
Desease Name
Systemic sclerosis
Rheumatoid arthritis
Celiac disease
Desease Name
Immunodeficiency due to defect in CD3-zeta
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D001151 Arsenic Arsenic affects the expression of CD247 mRNAaffects expression 18414638
D009151 Mustard Gas Mustard Gas results in increased expression of CD247 mRNAincreases expression 15674843
C025299 polyphenols polyphenols results in decreased expression of CD247 mRNAdecreases expression 16293270
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D018246 Adrenocortical Adenoma Arsenic 6.0817306315
MESH:D020261 Arsenic Poisoning Arsenic 2.9612569548 16251483 18414634 16835338
MESH:D001249 Asthma Mustard Gas 2.8110378619
MESH:D050197 Atherosclerosis Arsenic 3.4812928151 19371607
MESH:D001768 Blister Mustard Gas 5.9019167455
MESH:D001989 Bronchiolitis Obliterans Mustard Gas 5.9015286001
MESH:D029481 Bronchitis, Chronic Mustard Gas 5.8417687719 10378619
MESH:D002280 Carcinoma, Basal Cell Arsenic 3.8015504454 17687452
MESH:D006528 Carcinoma, Hepatocellular Arsenic 2.3216507464 17306315
MESH:D002294 Carcinoma, Squamous Cell Arsenic 2.7818922899 17687452 15504454
MESH:D002295 Carcinoma, Transitional Cell Arsenic 4.5218640142
MESH:D002318 Cardiovascular Diseases Arsenic 3.7415738583 17938729 19152805
MESH:D002340 Carotid Artery Diseases Arsenic 4.7318022660 16973168
MESH:D003110 Colonic Neoplasms polyphenols 2.7316293270
MESH:D056486 Drug-Induced Liver Injury polyphenols 2.8319370779
MESH:D004487 Edema Mustard Gas 3.789260866 11428647 11402378 11428631
MESH:D004890 Erythema Mustard Gas 5.909357497
MESH:D005534 Foot Diseases Arsenic 6.436392382
MESH:D017488 Hyperkeratosis, Epidermolytic Arsenic 4.9017050553
MESH:D006973 Hypertension Arsenic 3.009931084 11953799 16076760
MESH:D006987 Hypesthesia Arsenic 6.4316093927
OMIM:610163 IMMUNODEFICIENCY DUE TO DEFECT IN CD3-ZETA marker/mechanism
MESH:D007249 Inflammation Mustard Gas 6.1617524151 16001271 9260866 11428631 11428620 11402378 8975870 9357497 11428647
MESH:D007249 Inflammation polyphenols 6.1616366677
MESH:D007642 Keratosis Arsenic 5.7312749816 16930632
MESH:D015473 Leukemia, Promyelocytic, Acute Arsenic 3.8217339181
MESH:D008107 Liver Diseases Arsenic 4.7811134558
MESH:D008107 Liver Diseases polyphenols 4.7816698588
MESH:D008113 Liver Neoplasms Arsenic 2.8016368122
MESH:D008171 Lung Diseases Mustard Gas 3.7318702808 18161513
MESH:D008175 Lung Neoplasms Arsenic 2.8617976673 19168569 17306315
MESH:D008175 Lung Neoplasms Mustard Gas 2.863148597 8781369
MESH:D017202 Myocardial Ischemia Arsenic 4.3515371236
MESH:D009436 Neural Tube Defects Arsenic 3.7216620997
MESH:D020078 Neurogenic Inflammation Arsenic 4.9017056641
MESH:D009503 Neutropenia Mustard Gas 4.507688884 16761898
MESH:D010051 Ovarian Neoplasms Arsenic 2.8517306315
MESH:D010523 Peripheral Nervous System Diseases Arsenic 4.7616093927
MESH:D016491 Peripheral Vascular Diseases Arsenic 5.7316905509 6392382 15371236
MESH:D011041 Poisoning Mustard Gas 4.3215727166
MESH:D011471 Prostatic Neoplasms Arsenic 3.5416140617
MESH:D011507 Proteinuria Arsenic 4.5321343184
MESH:D011537 Pruritus Mustard Gas 4.8318058305
MESH:D011658 Pulmonary Fibrosis Mustard Gas 3.0617620002 17266442 17720292 17894541 10334151
MESH:D012595 Scleroderma, Systemic marker/mechanism 20383147
MESH:D012871 Skin Diseases Arsenic 5.4317453740 6392382 17938729 17548696 16353154 16759981 18709164 15952646 19834688 17050553 16702368
MESH:D012871 Skin Diseases Mustard Gas 5.4312880345 15451306 16961503
MESH:D012878 Skin Neoplasms Arsenic 3.1815504454 17029826 19538983 17050553 17976673 16251483
MESH:D013705 Temporomandibular Joint Disorders polyphenols 6.1217997062
MESH:D001749 Urinary Bladder Neoplasms Arsenic 2.9519322015 15987713 11144890 17306315 17976673 19429237 18640142
MESH:D014652 Vascular Diseases Arsenic 5.4817056641
Pathway ID Pathway Name
KEGG:05142 Chagas disease (American trypanosomiasis)
REACT:6185 HIV Infection
KEGG:04650 Natural killer cell mediated cytotoxicity
REACT:6900 Signaling in Immune system
KEGG:04660 T cell receptor signaling pathway
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA26219
    • No data
    Releated disease ID Related disease Name
    PA443815Crohn Disease
    PA446155Precursor Cell Lymphoblastic Leukemia-Lymphoma
    Releated drug ID Related drug Name
    PA449167cyclosporine
    PA451578tacrolimus
    PA164743471adenosine triphosphate
    Drug Bank Top
    Drugbank ID Action Drug Name Description
    DB00075 - Muromonab Immunomodulatory Agents;Immunosuppressive Agents
    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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