AutismKB 2.0

Annotation Detail for SLC9A3R2


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Basic Information Top
Gene Symbol:SLC9A3R2 ( E3KARP,MGC104639,NHE3RF2,NHERF-2,NHERF2,OCTS2,SIP-1,SIP1,TKA-1 )
Gene Full Name: solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 2
Band: 16p13.3
Quick LinksEntrez ID:9351; OMIM: 606553; Uniprot ID:NHRF2_HUMAN; ENSEMBL ID: ENSG00000065054; HGNC ID: 11076
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04960Aldosterone-regulated sodium reabsorption
No data
Pathway IDPathway Name
200011LPA receptor mediated events
No data
No data
Related Diseases/Disorders Top
No data
Desease IDDesease Name
2053Colon cancer
2154Adenoma
No data
No data
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane results in increased expression of SLC9A3R2 mRNAincreases expression 18648102
D015081 2-Naphthylamine 2-Naphthylamine results in decreased expression of SLC9A3R2 mRNAdecreases expression 18247414
D000643 Ammonium Chloride Ammonium Chloride affects the expression of SLC9A3R2 mRNAaffects expression 16483693
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of SLC9A3R2 mRNAdecreases expression 18247414
D001564 Benzo(a)pyrene Benzo(a)pyrene results in increased expression of SLC9A3R2 mRNAincreases expression 20106945
D004041 Dietary Fats Dietary Fats results in increased expression of SLC9A3R2 mRNAincreases expression 18042831
D004997 Ethinyl Estradiol Ethinyl Estradiol results in decreased expression of SLC9A3R2 mRNAdecreases expression 16174780
D004997 Ethinyl Estradiol Ethinyl Estradiol results in decreased expression of SLC9A3R2 mRNAdecreases expression 16174780
C051890 irinotecan irinotecan metabolite results in increased expression of SLC9A3R2 mRNAincreases expression 15956246
C051890 irinotecan irinotecan results in increased expression of SLC9A3R2 mRNAincreases expression 15956246
D008628 Mercury Mercury results in increased expression of SLC9A3R2 mRNAincreases expression 16823088
D008748 Methylcholanthrene Methylcholanthrene results in decreased expression of SLC9A3R2 mRNAdecreases expression 20713471
D009538 Nicotine Nicotine results in decreased expression of SLC9A3R2 mRNAdecreases expression 18247414
D010126 Ozone Ozone results in decreased expression of SLC9A3R2 mRNAdecreases expression 16716893
C041786 palm oil palm oil results in increased expression of SLC9A3R2 mRNAincreases expression 18042831
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of SLC9A3R2 mRNAincreases expression 20106945
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of SLC9A3R2 mRNAdecreases expression 19465110
C025643 vinclozolin vinclozolin affects the expression of SLC9A3R2 mRNAaffects expression 19015723
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 2.9314514962 15322242 11752688
MESH:D000138 Acidosis Ammonium Chloride 3.6418287403
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.0417505938
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 4.2220464547 20127859
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 4.2214692618
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 11.403712494
MESH:D000236 Adenoma Benzo(a)pyrene 11.406695378
MESH:D000236 Adenoma Methylcholanthrene 11.4010545420 6695378
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.4616835633
MESH:D000544 Alzheimer Disease Nicotine 4.6816627626
MESH:D000544 Alzheimer Disease Ozone 4.6815513908
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.0011748828
MESH:D001008 Anxiety Disorders vinclozolin 3.6819015723
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.1519183758
MESH:D001161 Arteriosclerosis Dietary Fats 10.1515238619
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 10.1511256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.6915885639
MESH:D001172 Arthritis, Rheumatoid Ozone 2.5715570426
MESH:D001249 Asthma Ozone 2.6516373670 17854713
MESH:D050197 Atherosclerosis Methylcholanthrene 3.4811922910
MESH:D001321 Autistic Disorder Mercury 2.7817497416
MESH:D001327 Autoimmune Diseases Mercury 4.9416634805
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 5.1211289319 1440618
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.1012125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 3.8915340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.8015746008
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 1.9617474063 20146248
MESH:D001943 Breast Neoplasms Dietary Fats 1.9620435547
MESH:D001943 Breast Neoplasms Methylcholanthrene 1.9617474063
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.9620435547
MESH:D016535 Bronchial Hyperreactivity Ozone 3.7215516495 19059883 18315731 18417511 14754758 16777450 17626835
MESH:D002100 Cachexia Ozone 4.8216183385
MESH:D002277 Carcinoma Methylcholanthrene 8.4810545420
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 8.4816835633
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 1.757296757 3581430
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 2.707296757
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 2.0620419170
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.3918850075 16120746 18670907
MESH:D002311 Cardiomyopathy, Dilated Mercury 3.4710334427
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 7.057505956
MESH:D002471 Cell Transformation, Neoplastic Methylcholanthrene 7.0516192471
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.2116835633
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 7.9919486331 9022650
MESH:D002779 Cholestasis Ethinyl Estradiol 7.9916919318 15861022 16105132 11677210 17681005 17110522 17333356
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.128697196 12621046 16354765 15340226 15668235
MESH:D003110 Colonic Neoplasms irinotecan 2.6017287894 17725105
MESH:D015179 Colorectal Neoplasms irinotecan 2.3615273666 16391804 17159606 18259882 18509181 16303861 17454858
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.1114669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2610048152 20055451 15322242
MESH:D003456 Cryptorchidism vinclozolin 4.4114966744
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 7.438156756 18759878 11906362 11298694 8970840 12868966 2524372 14531868
MESH:D017449 Dermatitis, Allergic Contact Mercury 7.4316823706
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 3.553621924 2952479
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.6817107852
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 3.7416192314 18289764 9022650 6482804 9328219 11289319 8291058 9653073 7440962 18692083 6679447 18648102 1440618
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 3.7420420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.8011462148
MESH:D050171 Dyslipidemias Dietary Fats 3.4918367378
MESH:D020821 Dystonic Disorders Nicotine 6.0117881519
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.4312711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.0016714409 15322242 18230668
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.2512538720
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.0710568697 9294722
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 4.403581430
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 4.4016530937
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.0511564622
MESH:D005234 Fatty Liver Dietary Fats 7.9018296743 19004024 17967931 19551842
MESH:D005234 Fatty Liver Ethinyl Estradiol 7.9015345470
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.5311858732
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 5.126705139
MESH:D005354 Fibrosarcoma Methylcholanthrene 5.0210962813 14633661
MESH:D005355 Fibrosis Dietary Fats 8.8718296743
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 8.8720067830
MESH:D030342 Genetic Diseases, Inborn vinclozolin 5.0216973722
MESH:D005832 Genital Diseases, Male vinclozolin 5.4016417039
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.107505956
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.6910696789
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 6.5420471113
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 6.5410048152 11294989
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.3911000095
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 3.586705139
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 2.9615340226 16120746 12621046
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.148697196 15340226 16354765 18606429 16959395
MESH:D006937 Hypercholesterolemia Dietary Fats 3.6521332399
MESH:D006949 Hyperlipidemias Dietary Fats 3.6721332399
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 4.0115034207
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9218850075 18670907
MESH:D007021 Hypospadias Ethinyl Estradiol 3.8816569931 16945680
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.5212013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 6.7817937319
MESH:D007248 Infertility, Male vinclozolin 6.7816467254
MESH:D007249 Inflammation Dietary Fats 5.0020412841
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.0012200463 12878042
MESH:D007333 Insulin Resistance Dietary Fats 3.1418457598 11836018
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 5.129022650 8074119
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.3916580747
MESH:D007674 Kidney Diseases Mercury 3.5917934191
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 3.016582329
MESH:D007984 Leydig Cell Tumor vinclozolin 4.8116417039
MESH:D008103 Liver Cirrhosis Dietary Fats 2.9018296743
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.239327722 15034207
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2412878042
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 4.3920195826 21137059
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.3916984957
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 10.066587162 1399818 3712494 598648
MESH:D008114 Liver Neoplasms, Experimental Methylcholanthrene 10.06598648 1399818
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 10.0612151625
MESH:D008171 Lung Diseases Ozone 3.418266340 19066396
MESH:D055370 Lung Injury Ozone 3.9220417186
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 4.9220135361 20464547 18569708 17053015 18816296 18520028 20064080 20869020 6695378
MESH:D008175 Lung Neoplasms Methylcholanthrene 4.9220970405 21163286 6695378 16337739 11893704 1399818 17909032 7750092 16271038 15390079 10545420 9230183 20512841
MESH:D008175 Lung Neoplasms Ozone 4.927614698 8597069
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 4.9219555203 11884234
MESH:D008679 Metaplasia Ozone 5.2010496685
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.2316381670
MESH:D052016 Mucositis irinotecan 5.0917159606
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.0612213967
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 5.993581430
MESH:D009362 Neoplasm Metastasis irinotecan 5.9918259882
MESH:D009369 Neoplasms Benzo(a)pyrene 5.4911141357
MESH:D009369 Neoplasms Nicotine 5.4916365874
MESH:D009389 Neovascularization, Pathologic Nicotine 5.0816365874
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.2814600291
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 2.956679447
MESH:D009447 Neuroblastoma irinotecan 3.508761367
MESH:D017599 Neuroectodermal Tumors irinotecan 4.818761367
MESH:D009765 Obesity Dietary Fats 2.3016723640 17217161 20132043 21332399 18457598 19632207 11836018 18674790 20518802
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 3.476482804 4026338
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 5.123988306
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.7511578682
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 3.557296757
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.3512520081
MESH:D010538 Peritonitis Ozone 4.2016369182
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 4.576228378
MESH:D011014 Pneumonia Ozone 4.4818007984 18381685 18929643
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.6218163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 9.7711399792 11896295 11222880 11118676
MESH:D011297 Prenatal Exposure Delayed Effects vinclozolin 9.7718220299 18042343 19015723
MESH:D011469 Prostatic Diseases vinclozolin 5.0218220299
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 2.9617292933
MESH:D011472 Prostatitis vinclozolin 5.0218629315
MESH:D011537 Pruritus Ethinyl Estradiol 3.3916919318 15861022
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 3.9018990726
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.413692021
MESH:D012640 Seizures Nicotine 3.8317873105
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 5.5510029692 19755658
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 5.5516192470
MESH:D013088 Spermatocele Ethinyl Estradiol 4.0416709447
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 2.5620155912 2093021
MESH:D013274 Stomach Neoplasms irinotecan 2.5615723263
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.6811994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.2015669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.0012697716
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 2.921399818 6582329 3712494 6587162 7505956
OMIM:188890 TOBACCO ADDICTION, SUSCEPTIBILITY TO Nicotine 4.7711259349 16785264 16720336
MESH:D014029 Tobacco Use Disorder Nicotine 5.5218041664 15735609 17979512 18305452
MESH:D001749 Urinary Bladder Neoplasms 2-Naphthylamine 8.5811144890
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 8.588074119
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 8.5817053015
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.3614692618
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.6912125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.5915869587 14671159
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.3515886252
MESH:D015430 Weight Gain Dietary Fats 3.7916723640
Pathway ID Pathway Name
KEGG:04960 Aldosterone-regulated sodium reabsorption
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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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