AutismKB 2.0

Annotation Detail for IGHMBP2


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Basic Information Top
Gene Symbol:IGHMBP2 ( CATF1,FLJ34220,FLJ41171,HCSA,HMN6,SMARD1,SMUBP2 )
Gene Full Name: immunoglobulin mu binding protein 2
Band: 11q13.3
Quick LinksEntrez ID:3508; OMIM: 600502; Uniprot ID:SMBP2_HUMAN; ENSEMBL ID: ENSG00000132740; HGNC ID: 5542
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1944Breast cancer
2083IGA glomerulonephritis
2134Amyotrophic lateral sclerosis
Desease Name
nephropathy in other diseases
RENAL
No data
Desease Name
Neuronopathy, distal hereditary motor, type VI
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C016403 2,4-dinitrotoluene 2,4-dinitrotoluene affects the expression of IGHMBP2 mRNAaffects expression 21346803
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of IGHMBP2 mRNAaffects expression 21346803
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane results in increased expression of IGHMBP2 mRNAincreases expression 18648102
D000643 Ammonium Chloride Ammonium Chloride affects the expression of IGHMBP2 mRNAaffects expression 16483693
D009151 Mustard Gas Mustard Gas results in increased expression of IGHMBP2 mRNAincreases expression 15674843
C025299 polyphenols polyphenols results in decreased expression of IGHMBP2 mRNAdecreases expression 16293270
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000138 Acidosis Ammonium Chloride 4.0218287403
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 2.923712494
MESH:D001249 Asthma Mustard Gas 2.7810378619
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 5.541440618 11289319
MESH:D001768 Blister Mustard Gas 5.6219167455
MESH:D001989 Bronchiolitis Obliterans Mustard Gas 5.6215286001
MESH:D029481 Bronchitis, Chronic Mustard Gas 5.5017687719 10378619
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 4.7816705839
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 4.7816705839
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 4.783581430 7296757
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 2.807296757
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 7.366135515
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 7.367505956
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 3.389022650 19486331
MESH:D003110 Colonic Neoplasms polyphenols 2.7116293270
MESH:D003490 Cyanosis 2,4-dinitrotoluene 12.3218551238
MESH:D003490 Cyanosis 2,6-dinitrotoluene 12.3218551238
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 3.2118759878 8156756 12868966 11906362 2524372 8970840 11298694 14531868
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 3.843621924 2952479
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 9.6718551238 21346803
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 9.6718551238 21346803
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 9.6718289764 11289319 18692083 1440618 9653073 6679447 8291058 16192314 18648102 9328219 9022650 6482804 7440962
MESH:D056486 Drug-Induced Liver Injury polyphenols 9.6719370779
MESH:D004487 Edema Mustard Gas 3.6311428647 9260866 11402378 11428631
MESH:D004890 Erythema Mustard Gas 5.629357497
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 2.173581430
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 5.546705139
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.397505956
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 3.896705139
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 4.3615034207
MESH:D007249 Inflammation Mustard Gas 5.9711402378 17524151 9357497 8975870 11428631 11428620 11428647 9260866 16001271
MESH:D007249 Inflammation polyphenols 5.9716366677
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 5.548074119 9022650
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 14.0016705839
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 14.0016705839
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 14.006582329
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.3815034207 9327722
MESH:D008107 Liver Diseases polyphenols 2.8416698588
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 2.247678174
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 6.502876784 2876786 6135515
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 6.50598648 3712494 1399818 6587162
MESH:D008171 Lung Diseases Mustard Gas 3.6518161513 18702808
MESH:D008175 Lung Neoplasms Mustard Gas 2.178781369 3148597
MESH:D009336 Necrosis 2,4-dinitrotoluene 11.9418551238
MESH:D009336 Necrosis 2,6-dinitrotoluene 11.947678174 18551238
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 2.573581430
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 3.106679447
MESH:D009503 Neutropenia Mustard Gas 4.327688884 16761898
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 16.9016049721 12819281
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 16.9016049721
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 16.904026338 6482804
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 5.543988306
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 3.907296757
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 4.996228378
MESH:D011041 Poisoning Mustard Gas 4.1515727166
MESH:D011537 Pruritus Mustard Gas 4.5518058305
MESH:D011658 Pulmonary Fibrosis Mustard Gas 3.0210334151 17266442 17620002 17894541 17720292
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.613692021
MESH:D012640 Seizures 2,4-dinitrotoluene 6.5618551238
MESH:D012640 Seizures 2,6-dinitrotoluene 6.5618551238
MESH:D012871 Skin Diseases Mustard Gas 2.7815451306 12880345 16961503
OMIM:604320 SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1 marker/mechanism
MESH:D013705 Temporomandibular Joint Disorders polyphenols 5.7717997062
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 3.126582329 6587162 7505956 3712494 1399818
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 8.8916049721
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 8.8916049721
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 8.898074119
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 13.5810091137
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 13.5810091137
No data
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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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