BCHE (GeneID: 590) | Homo sapiens
Description: butyrylcholinesterase [Source:HGNC Symbol;Acc:HGNC:983]
Synonyms: CHE1, E1, CHE2
Other ID(s): ENSG00000114200, HGNC:983
Protein Accession Numbers: ENST00000264381.3, ENST00000540653, ENST00000482958, ENST00000264381, ENST00000497011, ENST00000479451, NP_000046, ENST00000488954
Statistics: ClinVar(75) gnomAD(606) COSMIC(566) PTM(9)
ClinVar Pathogenicity of Variations help

∙ Please click the name of species for the protein accession number used in the alignment.
∙ A p letter used as a pointer to positions of post translational modifications in human.
∙ Protein domains illustrated above belong to Homo sapiens (Human).
∙ ClinVar stacked bar chart represents whole protein isoforms of the gene. Please, check the other protein isoforms of the gene below.
∙ If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000264381 You are here now! ENST00000479451 ENST00000482958 ENST00000488954 ENST00000497011 ENST00000540653 NP_000046 You are here now!


import_contactsClinVar Data
Variation ID filter_list Allele ID filter_list RS Number filter_list Variant Type filter_list Record filter_list Alteration filter_list Clinicial Sig. filter_list Last Update filter_list Phenotypes filter_list Cytogenetic filter_list Review Status filter_list RCV Acc.N. filter_list

healinggnomAD
Variant ID filter_list Transcript ID filter_list Alteration filter_list Annotation filter_list Allele C. filter_list Allele N. filter_list Allele F. filter_list rsNumber filter_list Flagsfilter_list Filter filter_list

placePost-translational Modifications (PTMs)
Gene Name filter_list ACC ID filter_list PTM Type filter_list Position filter_list Mod-rsd filter_list Site +/-7 Aa filter_list Mw_kd filter_list Site grpID filter_list

blur_onCatalogue of Somatic Mutations in Cancer (COSMIC)
Gene Name filter_list Transcript ID filter_list Sample name filter_list Primary Site filter_list Primary Histology filter_list Mutation ID filter_list Mutation CDS filter_list Mutation Aa filter_list Mutation Desc. filter_list FATHMM Prediction filter_list FATHMM Score filter_list Mutation Somatic Status filter_list PUBMED PMID filter_list Tumor Origin filter_list Position filter_list

chrome_reader_modedbSNP
Gene ID filter_list Transcript ID filter_list Consequence filter_list Position filter_list HGVSp filter_list Impact filter_list

format_align_centerProtein Domains (PFAM)
Pfam Domain filter_list Domain Name filter_list Description filter_list Positions filter_list Clan filter_list Clan Name filter_list Organism filter_list
NO RESULT FOUND
PF00135 COesterase Carboxylesterase family 30-550 CL0028 AB_hydrolase Homo sapiens
PF08674 AChE_tetra Acetylcholinesterase tetramerisation domain 565-599 Homo sapiens

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Alcoholic Intoxication Chemically-Induced Disorders ; Mental Disorders ; 0.503 0.793
Alzheimer's Disease Nervous System Diseases ; Mental Disorders ; 0.503 0.793
Apnea Respiratory Tract Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Bipolar Disorder Mental Disorders ; 0.503 0.793
Malignant neoplasm of breast Neoplasms ; Skin and Connective Tissue Diseases ; 0.503 0.793
Renal Cell Carcinoma Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.503 0.793
Cocaine Abuse Chemically-Induced Disorders ; Mental Disorders ; 0.503 0.793
Cognition Disorders Mental Disorders ; 0.503 0.793
Presenile dementia Nervous System Diseases ; Mental Disorders ; 0.503 0.793
Drug toxicity Chemically-Induced Disorders ; 0.503 0.793
Tonic-Clonic Epilepsy Nervous System Diseases ; 0.503 0.793
Muscular fasciculation Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Glioblastoma Neoplasms ; 0.503 0.793
Hemiparesis Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Hypersomnia with Periodic Respiration Respiratory Tract Diseases ; Nervous System Diseases ; 0.503 0.793
Hypertriglyceridemia Nutritional and Metabolic Diseases ; 0.503 0.793
Jacksonian Seizure Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Multiple Sclerosis Nervous System Diseases ; Immune System Diseases ; 0.503 0.793
Muscular Dystrophy Musculoskeletal Diseases ; Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.503 0.793
Neuroblastoma Neoplasms ; 0.503 0.793
Obesity Nutritional and Metabolic Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Paresis Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Poisoning Chemically-Induced Disorders ; 0.503 0.793
Postoperative Complications Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Sleep Apnea Syndromes Respiratory Tract Diseases ; Nervous System Diseases ; 0.503 0.793
Tachycardia Cardiovascular Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Trismus Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Adverse reaction to drug Chemically-Induced Disorders ; 0.503 0.793
Tachyarrhythmia Cardiovascular Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Encephalopathy, Toxic Nervous System Diseases ; Chemically-Induced Disorders ; 0.503 0.793
Complex partial seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Toxic Encephalitis Nervous System Diseases ; Chemically-Induced Disorders ; 0.503 0.793
Generalized seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Seizures, Clonic Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Todd Paralysis Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Neurotoxicity Syndromes Nervous System Diseases ; Chemically-Induced Disorders ; 0.503 0.793
Cocaine-Related Disorders Chemically-Induced Disorders ; Mental Disorders ; 0.503 0.793
Fasciculation, Tongue Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Masseter Muscle Spasm Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Pseudocholinesterase deficiency Respiratory Tract Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Monoparesis Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Visual seizure Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Tonic Seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Epileptic drop attack Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Familial Alzheimer Disease (FAD) Nervous System Diseases ; Mental Disorders ; 0.503 0.793
Conventional (Clear Cell) Renal Cell Carcinoma Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.503 0.793
Giant Cell Glioblastoma Neoplasms ; 0.503 0.793
Sleep Apnea, Mixed Central and Obstructive Respiratory Tract Diseases ; Nervous System Diseases ; 0.503 0.793
Lockjaw Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Organophosphorus Poisoning Chemically-Induced Disorders ; 0.503 0.793
Cardiac Death Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Seizures, Somatosensory Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Seizures, Auditory Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Olfactory seizure Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Gustatory seizure Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Vertiginous seizure Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Hyperactive behavior Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Alzheimer Disease, Late Onset Nervous System Diseases ; Mental Disorders ; 0.503 0.793
Tonic - clonic seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Paralysed Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Fasciculation, Skeletal Muscle Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Acute Confusional Senile Dementia Nervous System Diseases ; Mental Disorders ; 0.503 0.793
Cocaine Dependence Chemically-Induced Disorders ; Mental Disorders ; 0.503 0.793
Breast Carcinoma Neoplasms ; Skin and Connective Tissue Diseases ; 0.503 0.793
Organophosphate poisoning Chemically-Induced Disorders ; 0.503 0.793
Alzheimer's Disease, Focal Onset Nervous System Diseases ; Mental Disorders ; 0.503 0.793
Alzheimer Disease, Early Onset Nervous System Diseases ; Mental Disorders ; 0.503 0.793
Non-epileptic convulsion Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Single Seizure Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Cryptogenic Tonic-Clonic Epilepsy Nervous System Diseases ; 0.503 0.793
Epilepsy, Tonic-Clonic, Familial Nervous System Diseases ; 0.503 0.793
Epilepsy, Tonic-Clonic, Symptomatic Nervous System Diseases ; 0.503 0.793
Atonic Absence Seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Fasciculation, Benign Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Hyperkinesia, Generalized Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Multiple Sclerosis, Acute Fulminating Nervous System Diseases ; Immune System Diseases ; 0.503 0.793
Upper Extremity Paresis Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Lower Extremity Paresis Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Convulsive Seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Seizures, Focal Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Seizures, Sensory Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Cardiotoxicity Pathological Conditions, Signs and Symptoms ; Chemically-Induced Disorders ; Wounds and Injuries ; 0.503 0.793
Mammary Neoplasms, Human Neoplasms ; Skin and Connective Tissue Diseases ; 0.503 0.793
Chromophobe Renal Cell Carcinoma Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.503 0.793
Sarcomatoid Renal Cell Carcinoma Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.503 0.793
Collecting Duct Carcinoma of the Kidney Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.503 0.793
Butyrylcholinesterase deficiency Respiratory Tract Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Papillary Renal Cell Carcinoma Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.503 0.793
Mammary Neoplasms Neoplasms ; Skin and Connective Tissue Diseases ; 0.503 0.793
Glioblastoma Multiforme Neoplasms ; 0.503 0.793
Suxamethonium sensitivity Respiratory Tract Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Bamforth syndrome Musculoskeletal Diseases ; Stomatognathic Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Skin and Connective Tissue Diseases ; Endocrine System Diseases ; 0.503 0.793
Acholinesterasemia Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; 0.503 0.793
Apnea, Postanesthetic Respiratory Tract Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; 0.503 0.793
Hypocholinesterasemia, Fluoride-Resistant, Japanese Type Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; 0.503 0.793
Hypothyroidism, Thyroidal, With Spiky Hair And Cleft Palate Musculoskeletal Diseases ; Stomatognathic Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Skin and Connective Tissue Diseases ; Endocrine System Diseases ; 0.503 0.793
Organothiophosphonate Poisoning Chemically-Induced Disorders ; 0.503 0.793
Organothiophosphate Poisoning Chemically-Induced Disorders ; 0.503 0.793
Nonepileptic Seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
BCHE, FLUORIDE 1 PHENOTYPE N/A 0.503 0.793
BCHE, FLUORIDE 2 PHENOTYPE N/A 0.503 0.793
BCHE, K VARIANT PHENOTYPE N/A 0.503 0.793
BCHE, J VARIANT PHENOTYPE N/A 0.503 0.793
BCHE, H VARIANT PHENOTYPE N/A 0.503 0.793
BCHE NEWFOUNDLAND PHENOTYPE N/A 0.503 0.793
BCHE, SILENT 1 PHENOTYPE N/A 0.503 0.793
BCHE CYNTHIANA PHENOTYPE N/A 0.503 0.793
BCHE JOHANNESBURG PHENOTYPE N/A 0.503 0.793
APNEA, POSTANESTHETIC, DUE TO BCHE, ATYPICAL-1 N/A 0.503 0.793
BCHE, DIBUCAINE-RESISTANT I PHENOTYPE N/A 0.503 0.793
CHE*70G PHENOTYPE N/A 0.503 0.793
BCHE*70G PHENOTYPE N/A 0.503 0.793
BCHE ANN ARBOR PHENOTYPE N/A 0.503 0.793
CHE*FS117 PHENOTYPE N/A 0.503 0.793
BCHE*FS117 PHENOTYPE N/A 0.503 0.793
BCHE, FLUORIDE-RESISTANT I PHENOTYPE N/A 0.503 0.793
CHE*243M PHENOTYPE N/A 0.503 0.793
BCHE*243M PHENOTYPE N/A 0.503 0.793
BCHE, FLUORIDE-RESISTANT II PHENOTYPE N/A 0.503 0.793
CHE*390V PHENOTYPE N/A 0.503 0.793
BCHE*390V PHENOTYPE N/A 0.503 0.793
BCHE, QUANTITATIVE K POLYMORPHISM PHENOTYPE N/A 0.503 0.793
CHE*539T PHENOTYPE N/A 0.503 0.793
BCHE*539T PHENOTYPE N/A 0.503 0.793
BCHE, QUANTITATIVE J VARIANT PHENOTYPE N/A 0.503 0.793
BCHE, QUANTITATIVE H VARIANT PHENOTYPE N/A 0.503 0.793
BCHE*FS126 PHENOTYPE N/A 0.503 0.793
Convulsions Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Absence Seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Epileptic Seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Myoclonic Seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
Generalized Absence Seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.503 0.793
NO RESULT FOUND
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