AutismKB 2.0

Annotation Detail for TFR2


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Basic Information Top
Gene Symbol:TFR2 ( HFE3,MGC126368,TFRC2 )
Gene Full Name: transferrin receptor 2
Band: 7q22.1
Quick LinksEntrez ID:7036; OMIM: 604720; Uniprot ID:TFR2_HUMAN; ENSEMBL ID: ENSG00000106327; HGNC ID: 11762
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
Desease IDDesease Name
Inherited disorders of ion transport and metabolism
H00211Hemochromatosis
Genetic disorders
No data
Desease Name
HEMATOLOGICAL
hematological parameters
mean corpuscular volume
METABOLIC
iron load
hematocrit
Desease Name
Mean corpuscular volume
Hematological parameters
Hematocrit
Desease Name
Hemochromatosis, type 3
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D007501 Iron [HFE protein binds to TFR2 protein] which affects the susceptibility to Ironaffects binding|affects response to substance 16893896
D007501 Iron TFR2 protein affects the susceptibility to Ironaffects response to substance 16893896
D007501 Iron [HBB-B1 gene mutant form results in increased abundance of Iron] which results in decreased expression of TFR2 mRNAdecreases expression|increases abundance 17018382
D007501 Iron [HBB-B2 gene mutant form results in increased abundance of Iron] which results in decreased expression of TFR2 mRNAdecreases expression|increases abundance 17018382
D007501 Iron TFR2 protein affects the metabolism of Ironaffects metabolic processing 17194590
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of TFR2 mRNAdecreases expression 18163543
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.7315322242 14514962 11752688
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 4.2616835633
MESH:D019896 alpha 1-Antitrypsin Deficiency Iron 6.5416640825
MESH:D000544 Alzheimer Disease Iron 3.0816563566 16640825
MESH:D000740 Anemia Iron 10.6516566752 16434484
MESH:D000740 Anemia Tetrachlorodibenzodioxin 10.6511748828
MESH:D018798 Anemia, Iron-Deficiency Iron 5.1516569441 17375513 17163184 17162259 17147795
MESH:D000756 Anemia, Sideroblastic Iron 5.3616910769
MESH:D001145 Arrhythmias, Cardiac Iron 4.8716604332
MESH:D001260 Ataxia Telangiectasia Iron 6.3415336622
MESH:D050197 Atherosclerosis Iron 3.9616632123 16640825
MESH:D001321 Autistic Disorder Iron 2.7617352947
MESH:D001424 Bacterial Infections Iron 6.0816640825
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.5912125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.8615340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 3.0515746008
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.6620435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.2116835633
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.6018850075 16120746 18670907
MESH:D009202 Cardiomyopathies Iron 4.3416640825
MESH:D002311 Cardiomyopathy, Dilated Iron 3.5816604332
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.6316835633
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2615668235 15340226 16354765 12621046 8697196
MESH:D003110 Colonic Neoplasms Iron 2.9516640825
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.5317141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2715322242 10048152 20055451
MESH:D003920 Diabetes Mellitus Iron 4.9216604332 16640825
MESH:D003922 Diabetes Mellitus, Type 1 Iron 3.4716506275
MESH:D003924 Diabetes Mellitus, Type 2 Iron 4.8516506275
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 4.8517107852
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 1.6320420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 3.1211462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.9212711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.9718230668 16714409 15322242
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.539294722 10568697
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.3811564622
MESH:D005234 Fatty Liver Iron 4.6316640825
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 4.2211858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.7120067830
MESH:D005621 Friedreich Ataxia Iron 6.1916640825 16604332
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.6610696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.5510048152 11294989
MESH:D006432 Hemochromatosis marker/mechanism 17241880
MESH:D006432 Hemochromatosis Iron 4.8317236123 16574947 17255318 17053826 16604332 16640825
MESH:C537248 Hemochromatosis, type 3 marker/mechanism
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.8911000095
MESH:D006486 Hemosiderosis Iron 6.2816604332
MESH:D006525 Hepatitis, Viral, Human Iron 6.5416640825
MESH:D006527 Hepatolenticular Degeneration Iron 5.7017182432
MESH:D006529 Hepatomegaly Iron 11.4316890145
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 11.4315340226 16120746 12621046
MESH:D015658 HIV Infections Iron 3.8816597321
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 5.1216354765 8697196 15340226 16959395 18606429
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 2.0418850075 18670907
MESH:D007006 Hypogonadism Iron 4.7316640825
MESH:D007037 Hypothyroidism Iron 5.8516640825
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 2.0612878042 12200463
MESH:D019189 Iron Metabolism Disorders Iron 5.6417163184
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.8916580747
MESH:D020961 Lewy Body Disease Iron 6.1916563566
MESH:D008103 Liver Cirrhosis Iron 3.9516640825
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2512878042
MESH:D008108 Liver Diseases, Alcoholic Iron 5.7716737972 17207112
MESH:D008113 Liver Neoplasms Iron 5.2220302851 16640825
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 5.2216984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.3812151625
MESH:D008175 Lung Neoplasms Iron 2.6916640825
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.6919555203 11884234
MESH:D008268 Macular Degeneration Iron 4.2116640825
MESH:D020528 Multiple Sclerosis, Chronic Progressive Iron 6.7417086897
MESH:D009181 Mycoses Iron 6.5416640825
MESH:D017202 Myocardial Ischemia Iron 10.5616604332
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 10.5612213967
MESH:D015428 Myocardial Reperfusion Injury Iron 4.6516604332
MESH:D009404 Nephrotic Syndrome Iron 4.9817178036
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.8914600291
MESH:D019636 Neurodegenerative Diseases Iron 4.6817296847 16604332
MESH:D010003 Osteoarthritis Iron 4.2316640825
MESH:D010024 Osteoporosis Iron 4.1316648989 16640825
MESH:D010212 Papilloma Iron 5.2412065085
MESH:D020447 Parasomnias Iron 7.0917352947
MESH:D010300 Parkinson Disease Iron 3.4616640825 16563566
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 5.3212520081
MESH:D010900 Pituitary Diseases Iron 6.7416604332
MESH:D011041 Poisoning Iron 4.8916604332
MESH:D017119 Porphyria Cutanea Tarda Iron 13.3716640825
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 13.3718163543
MESH:D011225 Pre-Eclampsia Iron 4.8116640825
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 4.0811118676 11399792 11896295 11222880
MESH:D011528 Protozoan Infections Iron 7.0916640825
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.5118990726
MESH:D012148 Restless Legs Syndrome Iron 4.9116930377
MESH:D012878 Skin Neoplasms Iron 6.5112065085
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 6.5116192470
MESH:D013398 Sudden Infant Death Iron 6.3416640825
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.9712697716
MESH:D014376 Tuberculosis Iron 4.3616597321
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.6612125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 5.3215886252
No data
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA36477
    • No data
    Releated disease ID Related disease Name
    PA444405Hemochromatosis
    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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