AutismKB 2.0

Annotation Detail for MTRR


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Basic Information Top
Gene Symbol:MTRR ( MGC129643,MSR,cblE )
Gene Full Name: 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
Band: 5p15.31
Quick LinksEntrez ID:4552; OMIM: 602568; Uniprot ID:MTRR_HUMAN; ENSEMBL ID: ENSG00000124275; HGNC ID: 7473
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
Desease IDDesease Name
Inherited disorders of amino acid metabolism
Genetic disorders
H00183Homocystinuria
Desease IDDesease Name
1707Multiple myeloma
1740Alzheimer's disease
1781Rheumatoid arthritis
1831Prostate cancer
1856Obesity
1944Breast cancer
1983Down syndrome
1996Abruption placentae
1998Enteritis
2045Bipolar disorder
2051Leukemia
2064Spinal dysraphism
2069Schizophrenia
1823Infertility, Male
2039Hyperhomocysteinemia
2106Pancreas cancer
2126Encephalopathies
2214Malignant glioma
2191Meningioma
Desease Name
colorectal cancer
Drug Hypersensitivity
altered B vitamin/thiol metabolism
CANCER
folate homocysteine vitamin B12
esophageal cancer
Carcinoma, Pancreatic Ductal
gastric cardia cancer
neural tube defects
METABOLIC
Infertility, Male
DEVELOPMENTAL
REPRODUCTION
Pancreatic Neoplasms
No data
Desease Name
Homocystinuria-megaloblastic anemia, cbl E type
Neural tube defects, folate-sensitive, susceptibility to
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of MTRR mRNAaffects expression 21346803
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane results in decreased expression of MTRR mRNAdecreases expression 18648102
C005984 5-methyltetrahydrofolate MTRR protein affects the abundance of 5-methyltetrahydrofolateaffects abundance 17369066
D006710 Homocysteine MTRR protein affects the abundance of Homocysteineaffects abundance 17369066
D001151 Arsenic MTRR protein affects the metabolism of Arsenicaffects metabolic processing 18682255
D005492 Folic Acid Folic Acid affects the expression of MTRR mRNAaffects expression 17311948
D008715 Methionine MTRR protein affects the abundance of Methionineaffects abundance 17369066
D010634 Phenobarbital Phenobarbital results in increased expression of MTRR mRNAincreases expression 19270015
D012402 Rotenone Rotenone results in increased expression of MTRR mRNAincreases expression 19013527
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Phenobarbital 3.726195326
MESH:D058186 Acute Kidney Injury Folic Acid 4.5316595132 16316344 17003819
MESH:D000236 Adenoma marker/mechanism 17389618
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 7.383712494
MESH:D000236 Adenoma Folic Acid 7.3816963246
MESH:D018248 Adenoma, Liver Cell Phenobarbital 4.2617620307
MESH:D018246 Adrenocortical Adenoma Arsenic 5.5317306315
MESH:D000544 Alzheimer Disease Folic Acid 3.0817116317
MESH:D020261 Arsenic Poisoning Arsenic 2.9112569548 18414634 16251483 16835338
MESH:D050197 Atherosclerosis Arsenic 3.3612928151 19371607
MESH:D001321 Autistic Disorder 5-methyltetrahydrofolate 3.0418461502
MESH:D001321 Autistic Disorder Folic Acid 3.0421388746
MESH:D001321 Autistic Disorder Homocysteine 3.0416297937 20468076
MESH:D001321 Autistic Disorder Methionine 3.0419056591 16917939 19267885
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 5.3411289319 1440618
MESH:D001943 Breast Neoplasms Folic Acid 3.1516777985
MESH:D002280 Carcinoma, Basal Cell Arsenic 3.6915504454 17687452
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 6.8316705839
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 6.837296757 3581430
MESH:D006528 Carcinoma, Hepatocellular Arsenic 6.8316507464 17306315
MESH:D006528 Carcinoma, Hepatocellular Phenobarbital 6.8317173139 1701930 6705139 20935162 20007298
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 2.767296757
MESH:D002294 Carcinoma, Squamous Cell Arsenic 2.7417687452 18922899 15504454
MESH:D002295 Carcinoma, Transitional Cell Arsenic 4.2718640142
MESH:D002318 Cardiovascular Diseases Arsenic 8.2015738583 19152805 17938729
MESH:D002318 Cardiovascular Diseases Folic Acid 8.2016755160
MESH:D002340 Carotid Artery Diseases Arsenic 4.4918022660 16973168
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 7.126135515
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 7.127505956
MESH:D002493 Central Nervous System Diseases Phenobarbital 4.514080065
MESH:D002659 Child Development Disorders, Pervasive Methionine 4.3819267885
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 3.3019486331 9022650
MESH:D002971 Cleft Lip Folic Acid 4.0721254359
MESH:D002972 Cleft Palate Folic Acid 3.648946559 21254359
MESH:D015179 Colorectal Neoplasms marker/mechanism 16985020 17389618
MESH:D015179 Colorectal Neoplasms Folic Acid 2.7017245555 16985020 17087956 17116713 16963246
MESH:D003324 Coronary Artery Disease Homocysteine 3.8216379339
MESH:D003490 Cyanosis 2,6-dinitrotoluene 4.2818551238
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 3.0611298694 12868966 2524372 8156756 14531868 8970840 11906362 18759878
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 3.712952479 3621924
MESH:D003924 Diabetes Mellitus, Type 2 Folic Acid 3.1716886840
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 4.0218551238 21346803
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 4.027440962 9328219 9022650 18692083 18648102 1440618 18289764 8291058 11289319 9653073 6679447 6482804 16192314
MESH:D004421 Dystonia Phenobarbital 4.221851702
MESH:D016889 Endometrial Neoplasms Folic Acid 4.1317301261
MESH:D004831 Epilepsies, Myoclonic Phenobarbital 4.373659116
MESH:D004828 Epilepsies, Partial Phenobarbital 4.193922381 11558140
MESH:D004827 Epilepsy Phenobarbital 2.9820417680
MESH:D004832 Epilepsy, Absence Phenobarbital 3.726401628
MESH:D017029 Epilepsy, Complex Partial Phenobarbital 4.517750514
MESH:D004830 Epilepsy, Tonic-Clonic Phenobarbital 4.303659116
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 2.153581430
MESH:D017889 Exfoliation Syndrome Folic Acid 14.3616504073
MESH:D017889 Exfoliation Syndrome Homocysteine 14.3616504073
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 5.346705139
MESH:D005534 Foot Diseases Arsenic 5.886392382
MESH:D005756 Gastritis Folic Acid 5.4117171786
MESH:D005901 Glaucoma Folic Acid 12.6016504073
MESH:D005901 Glaucoma Homocysteine 12.6016504073
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.267505956
MESH:D006330 Heart Defects, Congenital Folic Acid 7.8116524890 17286298
MESH:D006330 Heart Defects, Congenital Homocysteine 7.8119638421
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 3.756705139
MESH:D006529 Hepatomegaly Phenobarbital 3.7416109766
MESH:D006679 HIV Seropositivity Folic Acid 5.7817209195
MESH:D006712 Homocystinuria 5-methyltetrahydrofolate 7.1117413090
OMIM:236270 HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblE COMPLEMENTATION TYPE marker/mechanism
MESH:D020138 Hyperhomocysteinemia marker/mechanism 16575899 17369066
MESH:D020138 Hyperhomocysteinemia Folic Acid 10.4516395265 16865747 16433478 16755160 16397167
MESH:D020138 Hyperhomocysteinemia Homocysteine 10.4517292331 18234410 17369066
MESH:D017488 Hyperkeratosis, Epidermolytic Arsenic 4.6517050553
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 4.2015034207
MESH:D006973 Hypertension Arsenic 2.9311953799 16076760 9931084
MESH:D006987 Hypesthesia Arsenic 5.8816093927
MESH:D007248 Infertility, Male marker/mechanism 16861746
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 5.348074119 9022650
MESH:D007642 Keratosis Arsenic 5.2816930632 12749816
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 7.9416705839
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 7.946582329
MESH:D015473 Leukemia, Promyelocytic, Acute Arsenic 3.6817339181
MESH:D008103 Liver Cirrhosis Phenobarbital 3.0021047994
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.319327722 15034207
MESH:D008106 Liver Cirrhosis, Experimental Methionine 3.4915158331
MESH:D008107 Liver Diseases Arsenic 7.0111134558
MESH:D008107 Liver Diseases Folic Acid 7.0116877991
MESH:D008107 Liver Diseases Phenobarbital 7.0119363144
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 7.927678174
MESH:D008113 Liver Neoplasms Arsenic 7.9216368122
MESH:D008113 Liver Neoplasms Phenobarbital 7.9219812893 8742319 19073162 15975961 19482888 21047994
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 10.572876786 2876784 6135515
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 10.57598648 3712494 6587162 1399818
MESH:D008114 Liver Neoplasms, Experimental Phenobarbital 10.5717172636 18308698 6150874 2563599 1399818
MESH:D008175 Lung Neoplasms Arsenic 2.2019168569 17306315 17976673
MESH:D008180 Lupus Erythematosus, Systemic Folic Acid 3.3817718048
MESH:D019767 Maxillofacial Abnormalities Folic Acid 5.9816832597
MESH:D008591 Meningomyelocele Homocysteine 5.7916602021
MESH:D009203 Myocardial Infarction Homocysteine 3.7917412321
MESH:D017202 Myocardial Ischemia Arsenic 4.1515371236
MESH:D020191 Myoclonic Epilepsies, Progressive Phenobarbital 4.7617484760
MESH:D009336 Necrosis 2,6-dinitrotoluene 4.157678174 18551238
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 2.543581430
MESH:D009410 Nerve Degeneration Rotenone 4.0418619942 17356569 15790535
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 18.576679447
MESH:D009436 Neural Tube Defects 5-methyltetrahydrofolate 18.5717413090
MESH:D009436 Neural Tube Defects Arsenic 18.5716620997
MESH:D009436 Neural Tube Defects Folic Acid 18.5717438019
OMIM:601634 NEURAL TUBE DEFECTS, FOLATE-SENSITIVE marker/mechanism
MESH:D020078 Neurogenic Inflammation Arsenic 4.6017056641
MESH:D009503 Neutropenia Folic Acid 4.7216322990
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 9.5416049721
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 9.546482804 4026338
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 5.343988306
MESH:D010018 Osteomalacia Phenobarbital 4.6517016548
MESH:D010051 Ovarian Neoplasms Arsenic 2.8017306315
MESH:D010190 Pancreatic Neoplasms Phenobarbital 2.5516965848
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 3.747296757
MESH:D010300 Parkinson Disease Homocysteine 6.0816275827
MESH:D010300 Parkinson Disease Rotenone 6.0819114014 16140633 15451049 18619942 11535288 16412576 11445065 18191903 19232380
MESH:D020734 Parkinsonian Disorders Rotenone 4.2715574749 18197244 15927086 15795934
MESH:D010523 Peripheral Nervous System Diseases Arsenic 4.4216093927
MESH:D016491 Peripheral Vascular Diseases Arsenic 5.2815371236 6392382 16905509
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 4.796228378
MESH:D011230 Precancerous Conditions Phenobarbital 3.802563599
MESH:D054198 Precursor Cell Lymphoblastic Leukemia-Lymphoma marker/mechanism 17136115
MESH:D011471 Prostatic Neoplasms Arsenic 3.5816140617
MESH:D011507 Proteinuria Arsenic 4.2221343184
MESH:D019310 Pseudolymphoma Phenobarbital 4.8112752131
MESH:D051437 Renal Insufficiency Folic Acid 5.0415728788
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.523692021
MESH:D012559 Schizophrenia Folic Acid 6.1616641680
MESH:D012559 Schizophrenia Homocysteine 6.1616641680
MESH:D012559 Schizophrenia Methionine 6.1615737665
MESH:D012640 Seizures 2,6-dinitrotoluene 6.3818551238
MESH:D012640 Seizures Phenobarbital 6.383137016 11442880 16876388 4039156
MESH:D003294 Seizures, Febrile Phenobarbital 5.116407741
MESH:D012871 Skin Diseases Arsenic 5.4916353154 17548696 19834688 17050553 6392382 15952646 16702368 17453740 16759981 18709164 17938729
MESH:D012871 Skin Diseases Folic Acid 5.4918709164
MESH:D012878 Skin Neoplasms Arsenic 3.0917029826 16251483 17050553 17976673 19538983 15504454
MESH:D013118 Spinal Cord Diseases Folic Acid 5.7816361298
MESH:D013274 Stomach Neoplasms Folic Acid 2.7017171786
MESH:D020521 Stroke Folic Acid 4.4916517955
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 7.673712494 6582329 6587162 7505956 1399818
MESH:D013964 Thyroid Neoplasms Phenobarbital 7.671399818
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 8.7616049721
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 8.768074119
MESH:D001749 Urinary Bladder Neoplasms Arsenic 8.7619322015 17306315 11144890 15987713 17976673 19429237 18640142
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 4.6010091137
MESH:D014652 Vascular Diseases Arsenic 5.0217056641
No data
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA31277
    • No data
    Releated disease ID Related disease Name
    PA443359Aneurysm
    PA446509Aortic Aneurysm, Abdominal
    PA445062Neoplasms
    PA446155Precursor Cell Lymphoblastic Leukemia-Lymphoma
    PA443434Arthritis, Rheumatoid
    PA446892Hyperhomocysteinemia
    PA444818Lung Neoplasms
    PA443796Coronary Artery Disease
    PA446974Choroidal Neovascularization
    PA445095Neural Tube Defects
    PA446286Spina Bifida Cystica
    PA444367Heart Defects, Congenital
    Releated drug ID Related drug Name
    PA450645nitrous oxide
    PA450428methotrexate
    PA449692folic acid
    PA451871verteporfin
    Drug Bank Top
    Drugbank ID Action Drug Name Description
    DB00115 - Liver-Stomach Concentrate with Intrinsic Factor Antianemic Agents;Essential Vitamin;Vitamins (Vitamin B Complex)
    DB00134 - L-Methionine Dietary supplement;Micronutrient;Essential Amino Acids
    DB00200 other Vege 1 Daily Caplet Nutritional Supplement;Anti-anemic Agents;Vitamin B Complex;Hematinics
    No data
    No data
    No data

    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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