AutismKB 2.0

Annotation Detail for PLCB2


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Basic Information Top
Gene Symbol:PLCB2 ( FLJ38135 )
Gene Full Name: phospholipase C, beta 2
Band: 15q15.1
Quick LinksEntrez ID:5330; OMIM: 604114; Uniprot ID:PLCB2_HUMAN; ENSEMBL ID: ENSG00000137841; HGNC ID: 9055
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Pathway IDPathway Name
PWY-6367D-myo-inositol-5-phosphate metabolism
LIPASYN-PWYphospholipases
PWY-6351D-myo-inositol (1,4,5)-trisphosphate biosynthesis
Pathway IDPathway Name
hsa00562Inositol phosphate metabolism
hsa04270Vascular smooth muscle contraction
hsa04973Carbohydrate digestion and absorption
hsa04912GnRH signaling pathway
hsa04916Melanogenesis
hsa04720Long-term potentiation
hsa04020Calcium signaling pathway
hsa05142Chagas disease
hsa05146Amoebiasis
hsa04310Wnt signaling pathway
hsa04540Gap junction
hsa04730Long-term depression
hsa04970Salivary secretion
hsa04972Pancreatic secretion
hsa05016Huntington's disease
hsa05010Alzheimer's disease
hsa04971Gastric acid secretion
hsa01100Metabolic pathways
hsa04742Taste transduction
hsa04062Chemokine signaling pathway
hsa04070Phosphatidylinositol signaling system
Pathway IDPathway Name
Signaling by GPCR
Synaptic Transmission
Diabetes pathways
Opioid Signalling
Integration of energy metabolism
Pathway IDPathway Name
200187Alpha-synuclein signaling
200069Thromboxane A2 receptor signaling
200071S1P1 pathway
200190RAC1 signaling pathway
Pathway IDPathway Name
P04385Histamine H1 receptor mediated signaling pathway
P04391Oxytocin receptor mediated signaling pathway
P00019Endothelin signaling pathway
P04394Thyrotropin-releasing hormone receptor signaling pathway
P043745HT2 type receptor mediated signaling pathway
P05730Endogenous cannabinoid signaling
P00002Alpha adrenergic receptor signaling pathway
P057262-arachidonoylglycerol biosynthesis
P00027Heterotrimeric G-protein signaling pathway-Gq alpha and Go alpha mediated pathway
P00031Inflammation mediated by chemokine and cytokine signaling pathway
P00057Wnt signaling pathway
No data
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1934Cancer
No data
No data
Desease Name
Platelet PLC beta-2 deficiency
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000643 Ammonium Chloride Ammonium Chloride affects the expression of PLCB2 mRNAaffects expression 16483693
C004742 daidzein daidzein promotes the reaction [GNB1 protein results in increased activity of PLCB2 protein]increases activity|increases reaction 16972265
C004742 daidzein daidzein promotes the reaction [GNB1 protein results in increased activity of PLCB2 protein results in increased activity of MAPK1 protein]increases activity|increases reaction 16972265
C004742 daidzein daidzein promotes the reaction [GNB1 protein results in increased activity of PLCB2 protein results in increased activity of MAPK3 protein]increases activity|increases reaction 16972265
D013749 Tetrachlorodibenzodioxin AHR protein affects the reaction [Tetrachlorodibenzodioxin results in increased expression of PLCB2 mRNA]affects reaction|increases expression 16891777
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of PLCB2 mRNAincreases expression 16891777
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.5914514962 11752688 15322242
MESH:D000138 Acidosis Ammonium Chloride 4.3018287403
MESH:D000230 Adenocarcinoma daidzein 3.5011473722
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 4.1216835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.3911748828
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.5312125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.6615340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 3.0215746008
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.6620435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.1616835633
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5818670907 16120746 18850075
MESH:D002318 Cardiovascular Diseases daidzein 4.5416332659
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.5816835633
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2516354765 15340226 15668235 8697196 12621046
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.4814669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2720055451 15322242 10048152
MESH:D003924 Diabetes Mellitus, Type 2 daidzein 4.9516647724
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 4.9517107852
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 1.6220420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 3.0911462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.8512711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.7718230668 16714409 15322242
MESH:D016889 Endometrial Neoplasms daidzein 4.5711473722
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.4710568697 9294722
MESH:D007172 Erectile Dysfunction daidzein 5.6014972507
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.3411564622
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 4.1111858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.6020067830
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.4610696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.5310048152 11294989
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.8211000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.5412621046 15340226 16120746
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.918697196 15340226 16959395 16354765 18606429
MESH:D006973 Hypertension daidzein 5.9717169123
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 5.9718670907 18850075
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 2.0412200463 12878042
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.8216580747
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2512878042
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 1.8416984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.3512151625
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 1.2419555203 11884234
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.3812213967
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.8014600291
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 5.1212520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 4.1418163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.9311896295 11222880 11118676 11399792
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.4218990726
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.2116192470
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.7712697716
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.4612125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 5.1215886252
Pathway ID Pathway Name
KEGG:05143 African trypanosomiasis
KEGG:05010 Alzheimer's disease
KEGG:05146 Amoebiasis
KEGG:04020 Calcium signaling pathway
KEGG:04973 Carbohydrate digestion and absorption
KEGG:05142 Chagas disease (American trypanosomiasis)
KEGG:04062 Chemokine signaling pathway
REACT:15380 Diabetes pathways
KEGG:04961 Endocrine and other factor-regulated calcium reabsorption
KEGG:04540 Gap junction
KEGG:04971 Gastric acid secretion
KEGG:04724 Glutamatergic synapse
KEGG:04912 GnRH signaling pathway
KEGG:05016 Huntington's disease
KEGG:00562 Inositol phosphate metabolism
REACT:1505 Integration of energy metabolism
KEGG:04730 Long-term depression
KEGG:04720 Long-term potentiation
KEGG:04916 Melanogenesis
KEGG:01100 Metabolic pathways
REACT:15295 Opioid Signalling
KEGG:04972 Pancreatic secretion
KEGG:04070 Phosphatidylinositol signaling system
KEGG:04970 Salivary secretion
REACT:14797 Signaling by GPCR
REACT:13685 Synaptic Transmission
KEGG:04742 Taste transduction
KEGG:04270 Vascular smooth muscle contraction
KEGG:04310 Wnt signaling pathway
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA33385
    • No data
    Releated disease ID Related disease Name
    PA445062Neoplasms
    Releated drug ID Related drug Name
    PA449092colchicine
    PA449396dopamine
    PA451578tacrolimus
    PA448478l-arginine
    PA450635nitric oxide
    Drug Bank Top

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    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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