AutismKB 2.0

Annotation Detail for CASR


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Basic Information Top
Gene Symbol:CASR ( CAR,EIG8,FHH,FIH,GPRC2A,HHC,HHC1,MGC138441,NSHPT,PCAR1 )
Gene Full Name: calcium-sensing receptor
Band: 3q13.33-q21.1
Quick LinksEntrez ID:846; OMIM: 601199; Uniprot ID:CASR_HUMAN; ENSEMBL ID: ENSG00000036828; HGNC ID: 1514
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
No data
Pathway IDPathway Name
Signaling by GPCR
Pathway IDPathway Name
200125E-cadherin signaling in keratinocytes
No data
Pathway IDPathway Name
500431Class C/3 (Metabotropic glutamate/pheromone receptors)
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1707Multiple myeloma
1797Vitamin D deficiency
1799Epilepsy
1807Autoimmune disease
1902Kidney failure
1918Atherosclerosis
1932Pancreatitis
2053Colon cancer
2105Primary hyperparathyroidism
1920Hyperparathyroidism
Desease Name
total serum calcium
primary hyperparathyroidism
colorectal cancer
CARDIOVASCULAR
calcium
hypercalciuria
albumin bone density calcium fractures, vertebral hyperparathyroidism kidney stone disease
CANCER
Familial hypocalciuric hypercalcemia
bone density
hyperparathyroidism, primary
METABOLIC
electrolyte levels
calcium cardiac death heart disease, ischemic myocardial infarct phosphate
hyperparathyroidism
Desease Name
Serum phosphorus concentrations
Serum calcium
Desease Name
Epilepsy, idiopathic generalized, susceptibility to, 8
Hypocalcemia, autosomal dominant
Hyperparathyroidism, neonatal
Hypocalcemia, autosomal dominant, with Bartter syndrome
Hypocalciuric hypercalcemia, type I
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000643 Ammonium Chloride Ammonium Chloride affects the expression of CASR mRNAaffects expression 16483693
C070515 bisindolylmaleimide I bisindolylmaleimide I inhibits the reaction [NPS R-467 promotes the reaction [Calcium results in increased phosphorylation of CASR protein]]decreases reaction|increases phosphorylation|increases reaction 17376781
D002118 Calcium bisindolylmaleimide I inhibits the reaction [NPS R-467 promotes the reaction [Calcium results in increased phosphorylation of CASR protein]]decreases reaction|increases phosphorylation|increases reaction 17376781
D002118 Calcium Calcium Chloride promotes the reaction [Calcium results in increased phosphorylation of CASR protein]increases phosphorylation|increases reaction 17376781
D002118 Calcium Calcium results in increased phosphorylation of CASR proteinincreases phosphorylation 17376781
D002118 Calcium CASR gene mutant form results in increased susceptibility to Calciumincreases response to substance 11089548
D002118 Calcium N-(2-chlorophenylpropyl)-1-(3-methoxyphenyl)ethylamine affects the reaction [CASR gene mutant form results in increased susceptibility to Calcium]affects reaction|increases response to substance 11089548
D002118 Calcium N-(2-chlorophenylpropyl)-1-(3-methoxyphenyl)ethylamine promotes the reaction [CASR protein results in increased susceptibility to Calcium]increases reaction|increases response to substance 11089548
D002118 Calcium NPS R-467 promotes the reaction [Calcium results in increased phosphorylation of CASR protein]increases phosphorylation|increases reaction 17376781
D002118 Calcium Calcium affects the expression of CASR mRNAaffects expression 15788476
D002118 Calcium Calcium affects the expression of CASR proteinaffects expression 15788476
D002118 Calcium Calcium binds to and results in increased activity of CASR proteinaffects binding|increases activity 11071898
D002122 Calcium Chloride Calcium Chloride promotes the reaction [Calcium results in increased phosphorylation of CASR protein]increases phosphorylation|increases reaction 17376781
C059041 calyculin A [phorbolol myristate acetate co-treated with calyculin A] results in increased phosphorylation of CASR proteinaffects cotreatment|increases phosphorylation 17376781
C059041 calyculin A calyculin A promotes the reaction [phorbolol myristate acetate results in increased phosphorylation of CASR protein]increases phosphorylation|increases reaction 17376781
D002713 Chlorine [Ozone co-treated with Chlorine] results in decreased expression of CASR mRNAaffects cotreatment|decreases expression 18636392
D003993 Dibutyl Phthalate Dibutyl Phthalate results in decreased expression of CASR mRNAdecreases expression 15620428
D004041 Dietary Fats Dietary Fats results in decreased expression of CASR mRNAdecreases expression 18042831
D002117 Calcitriol Calcitriol results in increased expression of CASR mRNAincreases expression 15788476
D002117 Calcitriol Calcitriol results in increased expression of CASR proteinincreases expression 15788476
D005682 Gadolinium Gadolinium binds to and results in increased activity of CASR proteinaffects binding|increases activity 11071898
D005839 Gentamicins CASR protein promotes the reaction [Gentamicins results in increased phosphorylation of and results in increased activity of MAPK1 protein]increases activity|increases phosphorylation|increases reaction 17537980
D005839 Gentamicins CASR protein promotes the reaction [Gentamicins results in increased phosphorylation of and results in increased activity of MAPK3 protein]increases activity|increases phosphorylation|increases reaction 17537980
D005839 Gentamicins Gentamicins binds to and results in increased activity of CASR proteinaffects binding|increases activity 17537980
D005839 Gentamicins Gentamicins results in increased expression of CASR proteinincreases expression 16850027
D008274 Magnesium CASR protein results in increased susceptibility to Magnesiumincreases response to substance 15068510
D008274 Magnesium Magnesium results in increased expression of CASR mRNAincreases expression 11563847
D008274 Magnesium Magnesium results in increased expression of CASR proteinincreases expression 11563847
C107873 N-(2-chlorophenylpropyl)-1-(3-methoxyphenyl)ethylamine N-(2-chlorophenylpropyl)-1-(3-methoxyphenyl)ethylamine affects the reaction [CASR gene mutant form results in increased susceptibility to Calcium]affects reaction|increases response to substance 11089548
C107873 N-(2-chlorophenylpropyl)-1-(3-methoxyphenyl)ethylamine N-(2-chlorophenylpropyl)-1-(3-methoxyphenyl)ethylamine promotes the reaction [CASR protein results in increased susceptibility to Calcium]increases reaction|increases response to substance 11089548
C107873 N-(2-chlorophenylpropyl)-1-(3-methoxyphenyl)ethylamine CASR protein results in increased susceptibility to N-(2-chlorophenylpropyl)-1-(3-methoxyphenyl)ethylamineincreases response to substance 15068510
D009355 Neomycin CASR protein promotes the reaction [Neomycin results in increased phosphorylation of and results in increased activity of MAPK1 protein]increases activity|increases phosphorylation|increases reaction 17537980
D009355 Neomycin CASR protein promotes the reaction [Neomycin results in increased phosphorylation of and results in increased activity of MAPK3 protein]increases activity|increases phosphorylation|increases reaction 17537980
D009355 Neomycin Neomycin binds to and results in increased activity of CASR proteinaffects binding|increases activity 17537980
C025256 nonylphenol nonylphenol results in decreased expression of CASR mRNAdecreases expression 15620428
C111654 NPS R-467 bisindolylmaleimide I inhibits the reaction [NPS R-467 promotes the reaction [Calcium results in increased phosphorylation of CASR protein]]decreases reaction|increases phosphorylation|increases reaction 17376781
C111654 NPS R-467 NPS R-467 promotes the reaction [Calcium results in increased phosphorylation of CASR protein]increases phosphorylation|increases reaction 17376781
C111654 NPS R-467 NPS R-467 results in decreased expression of CASR mRNAdecreases expression 16164647
C111654 NPS R-467 NPS R-467 promotes the reaction [Spermine binds to and results in increased activity of CASR protein]affects binding|increases activity|increases reaction 11071898
C111654 NPS R-467 NPS R-467 binds to and results in increased activity of CASR proteinaffects binding|increases activity 15086907
D010126 Ozone [Ozone co-treated with Chlorine] results in decreased expression of CASR mRNAaffects cotreatment|decreases expression 18636392
C041786 palm oil palm oil results in decreased expression of CASR mRNAdecreases expression 18042831
D010656 Phenylephrine Phenylephrine inhibits the reaction [Spermine binds to and results in increased activity of CASR protein]affects binding|decreases reaction|increases activity 11071898
C016658 phorbolol myristate acetate [phorbolol myristate acetate co-treated with calyculin A] results in increased phosphorylation of CASR proteinaffects cotreatment|increases phosphorylation 17376781
C016658 phorbolol myristate acetate calyculin A promotes the reaction [phorbolol myristate acetate results in increased phosphorylation of CASR protein]increases phosphorylation|increases reaction 17376781
C016658 phorbolol myristate acetate phorbolol myristate acetate results in increased phosphorylation of CASR proteinincreases phosphorylation 17376781
D010758 Phosphorus CASR protein affects the abundance of Phosphorusaffects abundance 11589681
D013096 Spermine NPS R-467 promotes the reaction [Spermine binds to and results in increased activity of CASR protein]affects binding|increases activity|increases reaction 11071898
D013096 Spermine Phenylephrine inhibits the reaction [Spermine binds to and results in increased activity of CASR protein]affects binding|decreases reaction|increases activity 11071898
D013096 Spermine Spermine binds to and results in increased activity of CASR proteinaffects binding|increases activity 11071898
D013096 Spermine Thapsigargin inhibits the reaction [Spermine binds to and results in increased activity of CASR protein]affects binding|decreases reaction|increases activity 11071898
D013324 Strontium CASR protein results in increased susceptibility to Strontiumincreases response to substance 15068510
D013324 Strontium Strontium affects the activity of CASR proteinaffects activity 15068510
D019284 Thapsigargin Thapsigargin inhibits the reaction [Spermine binds to and results in increased activity of CASR protein]affects binding|decreases reaction|increases activity 11071898
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000138 Acidosis Ammonium Chloride 3.3918287403
MESH:D058186 Acute Kidney Injury Gentamicins 4.3911274264
MESH:D055371 Acute Lung Injury Chlorine 4.1620601635
MESH:D000236 Adenoma Magnesium 4.4517823441
MESH:D000544 Alzheimer Disease Ozone 2.4015513908
MESH:D001145 Arrhythmias, Cardiac Phenylephrine 3.9617460149
MESH:D001161 Arteriosclerosis Dietary Fats 3.7215238619
MESH:D001172 Arthritis, Rheumatoid Ozone 2.5215570426
MESH:D001249 Asthma Ozone 2.5917854713 16373670
MESH:D001321 Autistic Disorder Magnesium 3.6016846101
MESH:D001919 Bradycardia Phenylephrine 4.3715306635
MESH:D001943 Breast Neoplasms Calcitriol 2.3511237771
MESH:D001943 Breast Neoplasms Dietary Fats 2.3520435547
MESH:D016535 Bronchial Hyperreactivity Ozone 3.5417626835 15516495 19059883 18315731 14754758 16777450 18417511
MESH:D002100 Cachexia Ozone 4.5716183385
MESH:D002294 Carcinoma, Squamous Cell Calcitriol 2.5811237771
MESH:D006332 Cardiomegaly Phenylephrine 3.4411754973 11179087 17124262 17287366 15728586 16170337
MESH:D003111 Colonic Polyps Magnesium 5.8917823441
MESH:D015179 Colorectal Neoplasms Magnesium 3.4517823441
MESH:D003456 Cryptorchidism Dibutyl Phthalate 5.2816037377
MESH:D002658 Developmental Disabilities Magnesium 4.7916846101
MESH:D004362 Drug Toxicity Gentamicins 4.3215033597 11033412
MESH:D050171 Dyslipidemias Dietary Fats 3.3318367378
MESH:D004417 Dyspnea Chlorine 4.4520016425
MESH:D004487 Edema bisindolylmaleimide I 4.268273558
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Calcitriol 3.7715138306
MESH:D004829 Epilepsy, Generalized marker/mechanism
MESH:D005234 Fatty Liver Dietary Fats 3.0917967931 18296743 19551842 19004024
MESH:D005355 Fibrosis Dietary Fats 3.3618296743
MESH:D005739 Gas Poisoning Chlorine 4.8420016425
MESH:D034381 Hearing Loss Gentamicins 4.7418024279 15968427 19130971 17868369
MESH:D006934 Hypercalcemia marker/mechanism
MESH:D053565 Hypercalciuria Gentamicins 5.5317652376
MESH:D006937 Hypercholesterolemia Dietary Fats 3.4421332399
MESH:D006949 Hyperlipidemias Dietary Fats 3.4521332399
MESH:D006961 Hyperparathyroidism marker/mechanism 11589681
OMIM:239200 HYPERPARATHYROIDISM, NEONATAL SEVERE PRIMARY marker/mechanism
MESH:D006962 Hyperparathyroidism, Secondary NPS R-467 6.9115086907
MESH:D006973 Hypertension Phenylephrine 3.018949925 12717712
MESH:D006984 Hypertrophy Phenylephrine 4.4012791704 18502941
OMIM:145980 HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE I marker/mechanism
OMIM:146200 HYPOPARATHYROIDISM, FAMILIAL ISOLATED marker/mechanism
MESH:D007249 Inflammation bisindolylmaleimide I 5.378273558
MESH:D007249 Inflammation Dietary Fats 5.3720412841
MESH:D007333 Insulin Resistance Dietary Fats 2.9918457598 11836018
MESH:D007673 Kidney Cortex Necrosis Gentamicins 5.5518842672
MESH:D007674 Kidney Diseases Gentamicins 3.7318289764 19349640 17934191
MESH:D007683 Kidney Tubular Necrosis, Acute Calcium 11.5316316344
MESH:D007683 Kidney Tubular Necrosis, Acute Gentamicins 11.5311231351
MESH:D016773 Leishmaniasis, Cutaneous Gentamicins 4.3210219319
MESH:D008103 Liver Cirrhosis Dietary Fats 2.7818296743
MESH:D008171 Lung Diseases Ozone 3.268266340 19066396
MESH:D055370 Lung Injury Ozone 3.6820417186
MESH:D008175 Lung Neoplasms Ozone 2.097614698 8597069
MESH:D008275 Magnesium Deficiency Magnesium 6.2717823441
MESH:D008679 Metaplasia Ozone 4.9310496685
MESH:D008881 Migraine Disorders Magnesium 4.6518803445
MESH:D009137 Muscular Dystrophy, Animal Gentamicins 6.1018694830
MESH:D009397 Nephrocalcinosis NPS R-467 6.9115086907
MESH:D009765 Obesity Dietary Fats 2.2516723640 20518802 18674790 20132043 18457598 17217161 19632207 21332399 11836018
MESH:D010018 Osteomalacia Strontium 6.5816815919
MESH:D010024 Osteoporosis Calcium 3.6817882678
MESH:D010538 Peritonitis Ozone 3.9616369182
MESH:D011014 Pneumonia Ozone 4.2218007984 18929643 18381685
MESH:D011470 Prostatic Hyperplasia Calcitriol 4.6115572423
MESH:D011471 Prostatic Neoplasms Calcitriol 3.5912479363 18247401 16644109 15754350 16289102
MESH:D011507 Proteinuria Gentamicins 4.5615033597
MESH:D051437 Renal Insufficiency Gentamicins 4.8215728788 17132701
MESH:D012120 Respiration Disorders Chlorine 5.0418579056
MESH:D012173 Retinitis Gentamicins 6.1018644591
MESH:D012852 Sinusitis Phenylephrine 4.537327846
MESH:D015837 Vestibular Diseases Gentamicins 5.3518776599
MESH:D015430 Weight Gain Dietary Fats 3.5916723640
Pathway ID Pathway Name
REACT:14797 Signaling by GPCR
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA26097
    • Releated gene ID Related gene Name
    PA26097CASR
    Releated disease ID Related disease Name
    PA445215Pancreatic Diseases
    No data
    Drug Bank Top
    Drugbank ID Action Drug Name Description
    DB01012 agonist Cinacalcet Calcimimetics
    No data
    No data
    No data

    Simple Query:


      (e.g. CHD8)

    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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