AutismKB 2.0

Annotation Detail for JPH3


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Basic Information Top
Gene Symbol:JPH3 ( CAGL237,FLJ44707,HDL2,JP-3,JP3,TNRC22 )
Gene Full Name: junctophilin 3
Band: 16q24.2
Quick LinksEntrez ID:57338; OMIM: 605268; Uniprot ID:JPH3_HUMAN; ENSEMBL ID: ENSG00000154118; HGNC ID: 14203
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1740Alzheimer's disease
1745Huntington disease
1789Movement disorder
No data
No data
Desease Name
Huntington disease-like 2
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C016403 2,4-dinitrotoluene 2,4-dinitrotoluene affects the expression of JPH3 mRNAaffects expression 21346803
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of JPH3 mRNAaffects expression 21346803
D000082 Acetaminophen Acetaminophen affects the expression of JPH3 mRNAaffects expression 17562736
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of JPH3 mRNAincreases expression 17942748
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of JPH3 mRNAaffects cotreatment|increases expression 17942748
D013629 Tamoxifen Tamoxifen results in increased expression of JPH3 mRNAincreases expression 17555576
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of JPH3 mRNAaffects cotreatment|increases expression 17942748
D019287 Zinc Sulfate Zinc Sulfate results in increased expression of JPH3 mRNAincreases expression 16330358
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000008 Abdominal Neoplasms Tamoxifen 4.9914745880
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.2415322242 14514962 11752688
MESH:D000138 Acidosis Zinc Sulfate 5.307265320
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.3817505938
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8614692618
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.7716835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.2111748828
MESH:D000799 Angioedema Acetaminophen 4.2910982225
MESH:D000860 Anoxia Zinc Sulfate 5.417265320
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.8211256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.8215885639
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.3312125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.2315340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9315746008
MESH:D001943 Breast Neoplasms Tamoxifen 1.9319059307 19189210 16273361 18351453 18984771 20544844 20005174 16202921 20390343 19221464 20065188 19189212 19066611 18629630 17440819 19244106 16818667 15668708 19289846 11161223 16873071 19084267 19103187 19115204 17261762 19155303 21152245 19011961 19487384 19142967 19288272 20135344 19410462 18855134 21138602 15565566 18425577 18815881 18821012 17893378 18997820 17049068 19200415 17242785 20859285
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.9320435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.0216835633
MESH:D018270 Carcinoma, Ductal, Breast Tamoxifen 4.8719066611
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 6.8416705839
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 6.8416705839
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 6.843084413
MESH:D006528 Carcinoma, Hepatocellular Tamoxifen 6.8416924424
MESH:D002295 Carcinoma, Transitional Cell Tamoxifen 3.8817572228
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5018850075 18670907 16120746
MESH:D002386 Cataract Acetaminophen 2.7310977129
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 2.956135515
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.4116835633
MESH:D002779 Cholestasis Ethinyl Estradiol 3.0717333356 16105132 11677210 17681005 17110522 16919318 15861022
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.208697196 15668235 15340226 12621046 16354765
MESH:D015179 Colorectal Neoplasms marker/mechanism 17892325
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.3114669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2610048152 15322242 20055451
MESH:D003490 Cyanosis 2,4-dinitrotoluene 12.1218551238
MESH:D003490 Cyanosis 2,6-dinitrotoluene 12.1218551238
MESH:D003711 Demyelinating Diseases Tamoxifen 4.7219031437
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7217107852
MESH:D003928 Diabetic Nephropathies Tamoxifen 3.7219279558
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 9.5218551238 21346803
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 9.5218551238 21346803
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 9.5212392966 10915739 11743745 19416960 11529661 16177239 16485898 12958197 10774834 17906064 16781746 18071297 17562736 12705907 18713872 17522070 19420014 15968718 19370779 11834606 14725611 19739265 11739529 19085960 14550746 11287661 10663392 16227642 15619225 14986274 12540782 16081117 12153990 16109766 16393943 11421492 12594235 11461765 19923254 2444490 19164858
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 9.5220420201
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.5419426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9611462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.6511000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.3516714409 15322242 18230668
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 10.0612538720
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Tamoxifen 10.0619031437
MESH:D016889 Endometrial Neoplasms Tamoxifen 3.2119155303 20544844 16202921 17893378
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.299294722 10568697
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.2111564622
MESH:D005234 Fatty Liver Ethinyl Estradiol 8.6415345470
MESH:D005234 Fatty Liver Tamoxifen 8.6414986274 19224547
MESH:D052776 Female Urogenital Diseases Tamoxifen 3.3916709447
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.8111858732
MESH:D018221 Fibromatosis, Abdominal Tamoxifen 4.9214745880
MESH:D018222 Fibromatosis, Aggressive Tamoxifen 4.5819069698
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.3120067830
MESH:D005756 Gastritis Acetaminophen 4.1216983495
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.0410696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4610048152 11294989
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.6211000095
MESH:D006527 Hepatolenticular Degeneration Zinc Sulfate 5.3617063115
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.2516120746 15340226 12621046
OMIM:606438 HUNTINGTON DISEASE-LIKE 2 marker/mechanism
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.4916354765 18606429 8697196 16959395 15340226
MESH:D006930 Hyperalgesia Acetaminophen 2.9216870215
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9918670907 18850075
MESH:D007021 Hypospadias Ethinyl Estradiol 4.1716945680 16569931
MESH:D007022 Hypotension Zinc Sulfate 4.777265320
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.7712013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.6617937319
MESH:D007249 Inflammation Tamoxifen 5.3219457130
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.3212878042 12200463
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.6216580747
MESH:D007674 Kidney Diseases Acetaminophen 2.3412587719 15629191
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 13.8116705839
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 13.8116705839
MESH:D007680 Kidney Neoplasms Tamoxifen 13.8118625569
MESH:D016773 Leishmaniasis, Cutaneous Zinc Sulfate 4.5015237267
MESH:D008064 Lipidoses Tamoxifen 3.3517567588 15342952
MESH:D008106 Liver Cirrhosis, Experimental Tamoxifen 2.3518564211
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.3512878042
MESH:D008107 Liver Diseases Acetaminophen 1.6819014921 16610002 19784758 11587558 19460945 12587719 12969438 16611625
MESH:D017114 Liver Failure, Acute Acetaminophen 3.5017185352 16871587
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 7.907678174
MESH:D008113 Liver Neoplasms Tamoxifen 7.9016684651
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 7.9016984957
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 6.272876784 6135515 2876786
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.2712151625
MESH:D008175 Lung Neoplasms Tamoxifen 2.3118625569
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.3119555203 11884234
MESH:D015674 Mammary Neoplasms, Animal Tamoxifen 4.1519428831
MESH:D008325 Mammary Neoplasms, Experimental Tamoxifen 2.7911731420 16827153 14580682 19196723 19196722
MESH:D020149 Manganese Poisoning Tamoxifen 4.9919453300
MESH:D008545 Melanoma Tamoxifen 1.9119393235 12393984
MESH:D018328 Melanoma, Amelanotic Tamoxifen 4.5815990972
MESH:D008546 Melanoma, Experimental Acetaminophen 3.9319513568
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.2412213967
MESH:D009336 Necrosis 2,4-dinitrotoluene 11.7018551238
MESH:D009336 Necrosis 2,6-dinitrotoluene 11.7018551238 7678174
MESH:D009362 Neoplasm Metastasis Tamoxifen 2.6419393235
MESH:D009364 Neoplasm Recurrence, Local Tamoxifen 2.5919410462
MESH:D009376 Neoplasms, Hormone-Dependent Tamoxifen 4.4419189210 19200415 19196722
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.5414600291
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.1018514411
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 9.7812819281 16049721
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 9.7816049721
MESH:D010146 Pain Acetaminophen 2.6216870215
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.9911578682
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.6912520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.8918163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.5911222880 11118676 11896295 11399792
MESH:D011471 Prostatic Neoplasms Tamoxifen 3.1015067354
MESH:D011537 Pruritus Ethinyl Estradiol 3.7115861022 16919318
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.1718990726
MESH:D012640 Seizures 2,4-dinitrotoluene 6.4718551238
MESH:D012640 Seizures 2,6-dinitrotoluene 6.4718551238
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1516192470
MESH:D013088 Spermatocele Ethinyl Estradiol 13.0916709447
MESH:D013088 Spermatocele Tamoxifen 13.0916709447
MESH:D013119 Spinal Cord Injuries Tamoxifen 4.4319457130
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.9211994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.4015669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.3512697716
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 8.8316049721
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 8.8316049721
MESH:D001749 Urinary Bladder Neoplasms Tamoxifen 8.838653321 16712894 17572228
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 13.3510091137
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 13.3510091137
MESH:D014581 Urticaria Acetaminophen 3.2810982225
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.6314692618
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.0412125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.8214671159 15869587
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.6915886252
No data
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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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