AutismKB 2.0

Annotation Detail for MTMR2


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Basic Information Top
Gene Symbol:MTMR2 ( CMT4B,CMT4B1,KIAA1073 )
Gene Full Name: myotubularin related protein 2
Band: 11q21
Quick LinksEntrez ID:8898; OMIM: 603557; Uniprot ID:MTMR2_HUMAN; ENSEMBL ID: ENSG00000087053; HGNC ID: 7450
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa00051Fructose and mannose metabolism
No data
No data
No data
No data
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1726Charcot-Marie-Tooth disease
1791Neuropathy
Desease Name
recessive Charcot-Marie-Tooth disease
No data
Desease Name
Charcot-Marie-Tooth disease, type 4B1
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene results in increased expression of MTMR2 mRNAincreases expression 20406850
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of MTMR2 mRNAaffects expression 21346803
C035207 4-amino-2,6-dinitrotoluene 4-amino-2,6-dinitrotoluene affects the expression of MTMR2 mRNAaffects expression 21346803
C006632 arsenic trioxide arsenic trioxide results in decreased expression of MTMR2 mRNAdecreases expression 20458559
D016572 Cyclosporine Cyclosporine results in increased expression of MTMR2 mRNAincreases expression 20106945
C017947 sodium arsenite sodium arsenite results in increased expression of MTMR2 mRNAincreases expression 17879257
D013629 Tamoxifen Tamoxifen results in increased expression of MTMR2 mRNAincreases expression 15849065
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000008 Abdominal Neoplasms Tamoxifen 5.0714745880
MESH:D000014 Abnormalities, Drug-Induced 4-amino-2,6-dinitrotoluene 4.417525203
MESH:D000230 Adenocarcinoma arsenic trioxide 2.3411798837 19825857
MESH:D000310 Adrenal Gland Neoplasms sodium arsenite 5.2215276417
MESH:D018246 Adrenocortical Adenoma sodium arsenite 5.4216712894 17306315
MESH:D001778 Blood Coagulation Disorders arsenic trioxide 4.0016206674
MESH:D001943 Breast Neoplasms Tamoxifen 2.1818855134 15668708 21152245 19011961 17242785 19115204 17440819 19189212 18425577 18815881 16202921 19221464 19103187 17893378 20005174 11161223 20859285 20390343 18821012 19084267 19410462 19155303 17261762 18351453 19244106 20544844 16818667 19189210 20065188 15565566 21138602 20135344 19200415 18629630 19066611 19487384 19059307 16873071 19288272 18997820 16273361 19289846 17049068 18984771 19142967
MESH:D002051 Burkitt Lymphoma arsenic trioxide 4.6811589617
MESH:D018270 Carcinoma, Ductal, Breast Tamoxifen 4.9219066611
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 6.9216705839
MESH:D006528 Carcinoma, Hepatocellular arsenic trioxide 6.9214691202 15073043 11135700 16217749 15553829
MESH:D006528 Carcinoma, Hepatocellular sodium arsenite 6.9217306315 16507464 15276417
MESH:D006528 Carcinoma, Hepatocellular Tamoxifen 6.9216924424
MESH:D002291 Carcinoma, Papillary arsenic trioxide 5.4019014326
MESH:D018288 Carcinoma, Small Cell arsenic trioxide 4.4212490120
MESH:D002294 Carcinoma, Squamous Cell sodium arsenite 2.4518572023
MESH:D002295 Carcinoma, Transitional Cell Tamoxifen 3.9217572228
MESH:D002386 Cataract 4-amino-2,6-dinitrotoluene 3.7914694615
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 12.416135515
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 12.4112371664
MESH:D002471 Cell Transformation, Neoplastic sodium arsenite 12.4120056578 19524636
MESH:C535420 Charcot-Marie-Tooth disease, Type 4B1 marker/mechanism
MESH:D002779 Cholestasis Cyclosporine 3.1419486331
MESH:D015179 Colorectal Neoplasms arsenic trioxide 1.8620501625
MESH:D000013 Congenital Abnormalities 4-amino-2,6-dinitrotoluene 4.4515095906
MESH:D023903 Coronary Restenosis arsenic trioxide 4.5712609071
MESH:D019465 Craniofacial Abnormalities arsenic trioxide 1.8910525206
MESH:D003490 Cyanosis 2,6-dinitrotoluene 4.4418551238
MESH:D016757 Death, Sudden, Cardiac arsenic trioxide 4.4515213294
MESH:D003711 Demyelinating Diseases Tamoxifen 4.7819031437
MESH:D003928 Diabetic Nephropathies Tamoxifen 3.7619279558
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 4.3518551238 21346803
MESH:D056486 Drug-Induced Liver Injury 4-amino-2,6-dinitrotoluene 4.3521346803
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Tamoxifen 3.9219031437
MESH:D016889 Endometrial Neoplasms Tamoxifen 3.2417893378 20544844 19155303 16202921
MESH:D004938 Esophageal Neoplasms arsenic trioxide 2.3712903497
MESH:D005234 Fatty Liver arsenic trioxide 15.0915073043
MESH:D005234 Fatty Liver Cyclosporine 15.0919224547
MESH:D005234 Fatty Liver Tamoxifen 15.0919224547 14986274
MESH:D052776 Female Urogenital Diseases Tamoxifen 3.4116709447
MESH:D018221 Fibromatosis, Abdominal Tamoxifen 4.9914745880
MESH:D018222 Fibromatosis, Aggressive Tamoxifen 4.6419069698
MESH:D005355 Fibrosis Cyclosporine 3.5612639820 12168785
MESH:D005706 Gallbladder Neoplasms arsenic trioxide 4.6416904648
MESH:D005833 Genital Neoplasms, Female sodium arsenite 5.1416452187
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.688708960
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.8815720958
MESH:D006689 Hodgkin Disease sodium arsenite 3.4312676792
MESH:D006973 Hypertension Cyclosporine 2.1910903974
MESH:D007248 Infertility, Male sodium arsenite 3.1915346721 12646999
MESH:D007249 Inflammation Tamoxifen 2.4919457130
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.9615604871
MESH:D007674 Kidney Diseases Cyclosporine 6.5618776723 10903974 8314463
MESH:D007674 Kidney Diseases sodium arsenite 6.5620008137
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 13.9816705839
MESH:D007680 Kidney Neoplasms Cyclosporine 13.9812371664
MESH:D007680 Kidney Neoplasms Tamoxifen 13.9818625569
MESH:D007938 Leukemia arsenic trioxide 2.9615070760
MESH:D015459 Leukemia-Lymphoma, Adult T-Cell arsenic trioxide 4.1212560223 17077332
MESH:D007948 Leukemia, Monocytic, Acute arsenic trioxide 4.7716972261
MESH:D015464 Leukemia, Myelogenous, Chronic, BCR-ABL Positive arsenic trioxide 3.6614633726
MESH:D007951 Leukemia, Myeloid arsenic trioxide 4.0919077051
MESH:D015470 Leukemia, Myeloid, Acute arsenic trioxide 2.1816467208 17050201 20471514 16968895 19850784
MESH:D015473 Leukemia, Promyelocytic, Acute arsenic trioxide 3.4116891316 15748426 19075265 16330433 11468182 12712474 16823087 17217047 17107899 17869043 15213294 16331271 9834237 19225113 19035177 12679006 16112521 15336539 17649720 12018890 19642359 11161223 17712046 15622746 16966277
MESH:D015458 Leukemia, T-Cell arsenic trioxide 4.7316882451
MESH:D008064 Lipidoses Tamoxifen 3.3715342952 17567588
MESH:D008106 Liver Cirrhosis, Experimental Tamoxifen 1.7518564211
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 11.577678174
MESH:D008113 Liver Neoplasms arsenic trioxide 11.5714682389
MESH:D008113 Liver Neoplasms sodium arsenite 11.5716712894 15276417
MESH:D008113 Liver Neoplasms Tamoxifen 11.5716684651
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 6.576135515 2876786 2876784
MESH:D008114 Liver Neoplasms, Experimental arsenic trioxide 6.5720377131
MESH:D008133 Long QT Syndrome arsenic trioxide 3.5915213294
MESH:D008171 Lung Diseases sodium arsenite 3.3719095001
MESH:D008175 Lung Neoplasms arsenic trioxide 3.6311798837 19825857
MESH:D008175 Lung Neoplasms sodium arsenite 3.6319931552 17306315 17077188 16712894 15276417
MESH:D008175 Lung Neoplasms Tamoxifen 3.6318625569
MESH:D015674 Mammary Neoplasms, Animal Tamoxifen 4.2219428831
MESH:D008325 Mammary Neoplasms, Experimental Tamoxifen 2.8111731420 19196723 14580682 16827153 19196722
MESH:D020149 Manganese Poisoning Tamoxifen 5.0719453300
MESH:D008545 Melanoma sodium arsenite 3.4619082730 16487513
MESH:D008545 Melanoma Tamoxifen 3.4612393984 19393235
MESH:D018328 Melanoma, Amelanotic Tamoxifen 4.6415990972
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.3116801185
MESH:D009101 Multiple Myeloma arsenic trioxide 3.3215949261 19417148 11468182 14977855 19549372
MESH:D009182 Mycosis Fungoides arsenic trioxide 5.1918349030
MESH:D009190 Myelodysplastic Syndromes arsenic trioxide 3.3016882451 16105982
MESH:D009336 Necrosis 2,6-dinitrotoluene 4.327678174 18551238
MESH:D009361 Neoplasm Invasiveness arsenic trioxide 4.3416624393
MESH:D009362 Neoplasm Metastasis Tamoxifen 2.6519393235
MESH:D009364 Neoplasm Recurrence, Local Tamoxifen 2.6019410462
MESH:D009369 Neoplasms sodium arsenite 2.6311559025
MESH:D009374 Neoplasms, Experimental sodium arsenite 4.0820056578
MESH:D009376 Neoplasms, Hormone-Dependent Tamoxifen 4.5219196722 19189210 19200415
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.9617954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.5718481113 19348381
MESH:D009436 Neural Tube Defects arsenic trioxide 7.9810525206
MESH:D009436 Neural Tube Defects sodium arsenite 7.9812854658
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 10.1616049721
MESH:D009784 Occupational Diseases 4-amino-2,6-dinitrotoluene 10.1614694615
MESH:D010051 Ovarian Neoplasms arsenic trioxide 5.1819769630 16624393 12452020
MESH:D010051 Ovarian Neoplasms sodium arsenite 5.1817306315 15276417
MESH:D010190 Pancreatic Neoplasms arsenic trioxide 2.6115580305
MESH:D010235 Paraganglioma arsenic trioxide 4.5119927285
MESH:D011230 Precancerous Conditions Cyclosporine 3.5112371664
MESH:D011471 Prostatic Neoplasms arsenic trioxide 2.5219131511
MESH:D011471 Prostatic Neoplasms sodium arsenite 2.5216039940
MESH:D011471 Prostatic Neoplasms Tamoxifen 2.5215067354
MESH:D011565 Psoriasis Cyclosporine 2.3116882103
MESH:D012512 Sarcoma, Ewing's arsenic trioxide 4.3416646077
MESH:D012640 Seizures 2,6-dinitrotoluene 2.7418551238
MESH:D012878 Skin Neoplasms sodium arsenite 2.8218572023 19524636
MESH:D013088 Spermatocele Tamoxifen 4.8116709447
MESH:D013119 Spinal Cord Injuries Tamoxifen 4.5019457130
MESH:D016135 Spinal Dysraphism sodium arsenite 4.0412854658
MESH:D013274 Stomach Neoplasms arsenic trioxide 1.8617007042
MESH:D013964 Thyroid Neoplasms arsenic trioxide 3.3219014326
MESH:D016171 Torsades de Pointes arsenic trioxide 4.4215213294
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 12.8016049721
MESH:D001749 Urinary Bladder Neoplasms arsenic trioxide 12.8011780464 20435036 12845720 12973940
MESH:D001749 Urinary Bladder Neoplasms sodium arsenite 12.8017306315 16452187 16712894 11723127
MESH:D001749 Urinary Bladder Neoplasms Tamoxifen 12.808653321 16712894 17572228
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 4.7810091137
MESH:D002583 Uterine Cervical Neoplasms sodium arsenite 4.0711813266
MESH:D014605 Uveitis Cyclosporine 4.501336536
MESH:D014652 Vascular Diseases sodium arsenite 4.8917056641
MESH:D014985 Xerophthalmia Cyclosporine 4.9617120751
Pathway ID Pathway Name
KEGG:00051 Fructose and mannose metabolism
Pharmacogenomics Knowledge Base Top
Drug Bank Top

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  (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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