AutismKB 2.0

Annotation Detail for TRPV4


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Basic Information Top
Gene Symbol:TRPV4 ( CMT2C,HMSN2C,OTRPC4,SPSMA,TRP12,VRL2,VROAC )
Gene Full Name: transient receptor potential cation channel, subfamily V, member 4
Band: 12q24.11
Quick LinksEntrez ID:59341; OMIM: 605427; Uniprot ID:TRPV4_HUMAN; ENSEMBL ID: ENSG00000111199; HGNC ID: 18083
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1826Cystic fibrosis
No data
No data
Desease Name
Metatropic dysplasia
Scapuloperoneal spinal muscular atrophy
Spondylometaphyseal dysplasia, Kozlowski type
Hereditary motor and sensory neuropathy, type IIc
Brachyolmia type 3
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000643 Ammonium Chloride Ammonium Chloride affects the expression of TRPV4 mRNAaffects expression 16483693
D002118 Calcium TRPV4 protein promotes the reaction [phorbol-12,13-didecanoate results in increased import of Calcium]increases import|increases reaction 18355916
D005419 Flavonoids Flavonoids results in decreased expression of TRPV4 mRNAdecreases expression 18035473
C008876 phorbol-12,13-didecanoate phorbol-12,13-didecanoate binds to and results in increased activity of TRPV4 proteinaffects binding|increases activity 18587396
C008876 phorbol-12,13-didecanoate TRPV4 protein promotes the reaction [phorbol-12,13-didecanoate results in increased import of Calcium]increases import|increases reaction 18355916
C008876 phorbol-12,13-didecanoate phorbol-12,13-didecanoate binds to and results in increased activity of TRPV4 proteinaffects binding|increases activity 19029406
C008876 phorbol-12,13-didecanoate phorbol-12,13-didecanoate results in increased activity of TRPV4 proteinincreases activity 19075100
C025299 polyphenols polyphenols results in increased expression of TRPV4 mRNAincreases expression 16293270
D012430 Ruthenium Red Ruthenium Red results in decreased activity of TRPV4 proteindecreases activity 19075100
D017673 Sodium Chloride, Dietary Sodium Chloride, Dietary results in increased expression of TRPV4 proteinincreases expression 19075100
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of TRPV4 mRNAincreases expression 20106945
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.1811752688 14514962 15322242
MESH:D000138 Acidosis Ammonium Chloride 3.9018287403
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.7116835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.1711748828
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.2912125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.1715340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9115746008
OMIM:113500 BRACHYOLMIA TYPE 3 marker/mechanism
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.6820435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9916835633
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4918850075 16120746 18670907
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.3816835633
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1916354765 15340226 8697196 12621046 15668235
MESH:D003110 Colonic Neoplasms polyphenols 2.7016293270
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.2714669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2615322242 20055451 10048152
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7117107852
MESH:D056486 Drug-Induced Liver Injury polyphenols 4.1819370779
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 4.1820420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9311462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.6111000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.2816714409 15322242 18230668
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.2510568697 9294722
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1911564622
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.7611858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.2520067830
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.9710696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4410048152 11294989
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.5811000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.2015340226 16120746 12621046
OMIM:606071 HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC marker/mechanism 20037586 20037587 20037588
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.4218606429 8697196 16959395 16354765 15340226
MESH:D006973 Hypertension Sodium Chloride, Dietary 6.1318524855
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 6.1318670907 18850075
MESH:D007249 Inflammation Flavonoids 9.0717296493
MESH:D007249 Inflammation polyphenols 9.0716366677
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 9.0712878042 12200463
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.5816580747
MESH:D007683 Kidney Tubular Necrosis, Acute Calcium 5.4216316344
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2412878042
MESH:D008107 Liver Diseases polyphenols 2.8316698588
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 1.7916984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.2412151625
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 1.2411884234 19555203
OMIM:156530 METATROPIC DYSPLASIA marker/mechanism 20425821
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.2112213967
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.4914600291
MESH:D010009 Osteochondrodysplasias marker/mechanism 18587396
MESH:D010024 Osteoporosis Calcium 3.9217882678
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.6212520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.8418163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.5311118676 11222880 11896295 11399792
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.1218990726
OMIM:181405 SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY marker/mechanism 20037587 20037588
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1416192470
OMIM:600175 SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE marker/mechanism 20037588
MESH:C535797 Spondylometaphyseal dysplasia, Kozlowski type marker/mechanism
MESH:D013705 Temporomandibular Joint Disorders polyphenols 5.6317997062
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.2812697716
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.9712125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.6215886252
No data
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA38293
    • No data
    Releated disease ID Related disease Name
    PA162168980brachyolmia
    Releated drug ID Related drug Name
    PA164743471adenosine triphosphate
    PA448478l-arginine
    PA164747225l-citrulline
    PA450635nitric oxide
    Drug Bank Top

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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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