Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	590
Gene name	Butyrylcholinesterase
Gene symbol	BCHE
Synonyms (NCBI Gene)	BCHEDCHE1CHE2E1
Chromosome	3
Chromosome location	3q26.1
Summary	This gene encodes a cholinesterase enzyme and member of the type-B carboxylesterase/lipase family of proteins. The encoded enzyme exhibits broad substrate specificity and is involved in the detoxification of poisons including organophosphate nerve agents

Show/Hide all (52)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1799807	T>C	Pathogenic, pathogenic-likely-pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs3732880	G>A	Likely-pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs28933389	G>A	Pathogenic, likely-pathogenic	Non coding transcript variant, intron variant, missense variant, coding sequence variant
rs28933390	C>A,G,T	Pathogenic, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, intron variant, missense variant, coding sequence variant
rs104893684	A>G	Likely-pathogenic	Non coding transcript variant, missense variant, intron variant, coding sequence variant
rs114706984	G>A	Likely-pathogenic	Non coding transcript variant, missense variant, intron variant, coding sequence variant
rs115129687	C>G	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, intron variant, coding sequence variant
rs115624085	T>C	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, intron variant, coding sequence variant
rs121918556	T>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121918557	A>T	Pathogenic, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, intron variant, coding sequence variant
rs121918558	T>A,C,G	Pathogenic	Non coding transcript variant, missense variant, intron variant, coding sequence variant
rs140080572	C>A	Likely-pathogenic	Stop gained, intron variant, non coding transcript variant, coding sequence variant
rs199660374	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs201820739	C>T	Pathogenic-likely-pathogenic	Coding sequence variant, intron variant, non coding transcript variant, missense variant
rs398124632	A>CT	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, intron variant
rs527843566	C>G,T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant, intron variant
rs568724445	C>A,T	Likely-pathogenic	Non coding transcript variant, stop gained, missense variant, intron variant, coding sequence variant
rs745364489	G>A	Likely-pathogenic	Missense variant, intron variant, coding sequence variant, non coding transcript variant
rs746209182	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant, intron variant, stop gained
rs747196387	C>A	Likely-pathogenic	Stop gained, intron variant, coding sequence variant, non coding transcript variant
rs747983616	AG>-	Likely-pathogenic	Intron variant, coding sequence variant, non coding transcript variant, frameshift variant
rs750309713	T>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, intron variant
rs751910853	A>G	Drug-response	Non coding transcript variant, initiator codon variant, intron variant, missense variant
rs754214624	->T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, intron variant
rs760182781	G>A,C,T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant, stop gained, intron variant
rs760485585	A>T	Conflicting-interpretations-of-pathogenicity	Stop gained, non coding transcript variant, coding sequence variant
rs762189020	C>-	Likely-pathogenic	Intron variant, non coding transcript variant, frameshift variant, coding sequence variant
rs762341786	G>C,T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant, stop gained, intron variant
rs772259613	TTTC>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, intron variant, frameshift variant
rs778568717	A>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, intron variant, frameshift variant
rs779366544	T>C	Likely-pathogenic	Splice acceptor variant
rs990121358	G>A,T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, intron variant, missense variant, stop gained
rs1057516450	->A	Likely-pathogenic	Intron variant, frameshift variant, non coding transcript variant, coding sequence variant
rs1057516482	C>A	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1057516496	C>A,T	Likely-pathogenic	Splice donor variant
rs1057516707	C>-	Likely-pathogenic	Intron variant, frameshift variant, non coding transcript variant, coding sequence variant
rs1057516784	AA>-	Likely-pathogenic	Intron variant, frameshift variant, non coding transcript variant, coding sequence variant
rs1057517144	G>A	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1057517208	G>A	Likely-pathogenic	Intron variant, stop gained, non coding transcript variant, coding sequence variant
rs1057517218	C>A	Likely-pathogenic	Intron variant, splice donor variant
rs1057517221	C>A	Likely-pathogenic	Intron variant, stop gained, non coding transcript variant, coding sequence variant
rs1057517265	G>A	Likely-pathogenic	Intron variant, stop gained, non coding transcript variant, coding sequence variant
rs1057517288	G>-	Likely-pathogenic	Intron variant, frameshift variant, non coding transcript variant, coding sequence variant
rs1057517439	T>-	Likely-pathogenic	Intron variant, frameshift variant, non coding transcript variant, coding sequence variant
rs1278095773	G>A	Likely-pathogenic	Stop gained, coding sequence variant, intron variant, non coding transcript variant
rs1553778017	C>T	Likely-pathogenic	Non coding transcript variant, stop gained, intron variant, coding sequence variant
rs1553778044	->A	Likely-pathogenic	Frameshift variant, non coding transcript variant, intron variant, coding sequence variant
rs1553778114	G>A	Likely-pathogenic	Non coding transcript variant, stop gained, intron variant, coding sequence variant
rs1553778179	T>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, intron variant, coding sequence variant
rs1553778185	G>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, intron variant, coding sequence variant
rs1553778198	T>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, intron variant, coding sequence variant
rs1553778291	C>T	Likely-pathogenic	Non coding transcript variant, stop gained, intron variant, coding sequence variant

Show/Hide all (24)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018332	hsa-miR-335-5p	Microarray	18185580
MIRT029814	hsa-miR-26b-5p	Microarray	19088304
MIRT818001	hsa-miR-1275	CLIP-seq
MIRT818002	hsa-miR-1279	CLIP-seq
MIRT818003	hsa-miR-181a	CLIP-seq
MIRT818004	hsa-miR-181b	CLIP-seq
MIRT818005	hsa-miR-181c	CLIP-seq
MIRT818006	hsa-miR-181d	CLIP-seq
MIRT818007	hsa-miR-3146	CLIP-seq
MIRT818008	hsa-miR-3148	CLIP-seq
MIRT818009	hsa-miR-4260	CLIP-seq
MIRT818010	hsa-miR-4262	CLIP-seq
MIRT818011	hsa-miR-4665-5p	CLIP-seq
MIRT818012	hsa-miR-4668-5p	CLIP-seq
MIRT818013	hsa-miR-4775	CLIP-seq
MIRT818014	hsa-miR-489	CLIP-seq
MIRT818015	hsa-miR-548ae	CLIP-seq
MIRT818016	hsa-miR-548aj	CLIP-seq
MIRT818017	hsa-miR-548am	CLIP-seq
MIRT818018	hsa-miR-548x	CLIP-seq
MIRT818019	hsa-miR-590-3p	CLIP-seq
MIRT818020	hsa-miR-625	CLIP-seq
MIRT818013	hsa-miR-4775	CLIP-seq
MIRT818019	hsa-miR-590-3p	CLIP-seq

Show/Hide all (40)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001540	Function	Amyloid-beta binding	NAS	11569538
GO:0003824	Function	Catalytic activity	NAS	11569538
GO:0003990	Function	Acetylcholinesterase activity	IBA
GO:0003990	Function	Acetylcholinesterase activity	IEA
GO:0003990	Function	Acetylcholinesterase activity	ISS
GO:0004104	Function	Cholinesterase activity	IDA	19452557
GO:0004104	Function	Cholinesterase activity	IEA
GO:0004104	Function	Cholinesterase activity	TAS	2339692
GO:0005515	Function	Protein binding	IPI	28514442, 32296183, 32814053, 33961781
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	NAS	14718574
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IEA
GO:0005641	Component	Nuclear envelope lumen	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0006581	Process	Acetylcholine catabolic process	IBA
GO:0006805	Process	Xenobiotic metabolic process	TAS
GO:0007584	Process	Response to nutrient	IEA
GO:0007612	Process	Learning	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IEA
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0014016	Process	Neuroblast differentiation	IEA
GO:0016486	Process	Peptide hormone processing	TAS
GO:0016787	Function	Hydrolase activity	IEA
GO:0016788	Function	Hydrolase activity, acting on ester bonds	TAS
GO:0019695	Process	Choline metabolic process	IBA
GO:0019695	Process	Choline metabolic process	IEA
GO:0019899	Function	Enzyme binding	NAS	11569538
GO:0033265	Function	Choline binding	IEA
GO:0042802	Function	Identical protein binding	IPI	17660298, 20883446, 21059932, 22726956
GO:0043279	Process	Response to alkaloid	IEA
GO:0050783	Process	Cocaine metabolic process	TAS	8622553
GO:0050805	Process	Negative regulation of synaptic transmission	IEA
GO:0051384	Process	Response to glucocorticoid	IEA
GO:0051593	Process	Response to folic acid	IEA
GO:0052689	Function	Carboxylic ester hydrolase activity	IEA
GO:0072562	Component	Blood microparticle	HDA	22516433

MIM	HGNC	e!Ensembl
177400	983	ENSG00000114200

P06276

Protein name

Cholinesterase (EC 3.1.1.8) (Acylcholine acylhydrolase) (Butyrylcholine esterase) (Choline esterase II) (Pseudocholinesterase)

Protein function

Esterase with broad substrate specificity. Contributes to the inactivation of the neurotransmitter acetylcholine. Can degrade neurotoxic organophosphate esters.

PDB

1P0I , 1P0M , 1P0P , 1P0Q , 1XLU , 1XLV , 1XLW , 2J4C , 2PM8 , 2WID , 2WIF , 2WIG , 2WIJ , 2WIK , 2WIL , 2WSL , 2XMB , 2XMC , 2XMD , 2XMG , 2XQF , 2XQG , 2XQI , 2XQJ , 2XQK , 2Y1K , 3DJY , 3DKK , 3O9M , 4AQD , 4AXB , 4B0O , 4B0P , 4BBZ , 4BDS , 4TPK , 4XII , 5DYT , 5DYW , 5DYY , 5K5E , 5LKR , 5NN0 , 6EMI , 6EP4 , 6EQP , 6EQQ , 6ESJ , 6ESY , 6EYF , 6EZ2

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00135	COesterase	30 → 550	Carboxylesterase family	Domain
PF08674	AChE_tetra	565 → 601	Acetylcholinesterase tetramerisation domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Detected in blood plasma (at protein level). Present in most cells except erythrocytes. {ECO:0000269|PubMed:19368529, ECO:0000269|PubMed:19542320}.

Sequence

MHSKVTIICIRFLFWFLLLCMLIGKSHTEDDIIIATKNGKVRGMNLTVFGGTVTAFLGIP
YAQPPLGRLRFKKPQSLTKWSDIWNATKYANSCCQNIDQSFPGFHGSEMWNPNTDLSEDC
LYLNVWIPAPKPKNATVLIWIYGGGFQTGTSSLHVYDGKFLARVERVIVVSMNYRVGALG
FLALPGNPEAPGNMGLFDQQLALQWVQKNIAAFGGNPKSVTLFGESAGAASVSLHLLSPG
SHSLFTRAILQSGSFNAPWAVTSLYEARNRTLNLAKLTGCSRENETEIIKCLRNKDPQEI
LLNEAFVVPYGTPLSVNFGPTVDGDFLTDMPDILLELGQFKKTQILVGVNKDEGTAFLVY
GAPGFSKDNNSIITRKEFQEGLKIFFPGVSEFGKESILFHYTDWVDDQRPENYREALGDV
VGDYNFICPALEFTKKFSEWGNNAFFYYFEHRSSKLPWPEWMGVMHGYEIEFVFGLPLER
RDNYTKAEEILSRSIVKRWANFAKYGNPNETQNNSTSWPVFKSTEQKYLTLNTESTRIMT
KLRAQQCRFWTSFFPKVLEMTGNIDEAEWEWKAGFHRWNNYMMDWKNQFNDYTSKKESCV
GL

Sequence length

602

Interactions

View interactions

	Reactome
			Neurotransmitter clearance Synthesis of PC Synthesis, secretion, and deacylation of Ghrelin

146

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
BCHE, H variant	Likely pathogenic	rs527843566	RCV000014110
BCHE-related disorder	Likely pathogenic; Pathogenic	rs530517316, rs781368801, rs745364489	RCV004756293 RCV003408171 RCV003420176
Butyrylcholinesterase deficiency, fluoride-resistant, Japanese type	Likely pathogenic; Pathogenic	rs121918557	RCV000014130
Deficiency of butyrylcholinesterase	Likely pathogenic; Pathogenic	rs767469658, rs2108235127, rs530517316, rs534912670, rs781368801, rs115129687, rs2473425708, rs759643427, rs759679732, rs398124632, rs121918557, rs121918558, rs104893684, rs2473426112, rs201820739 View all (36 more)	RCV001780677 RCV001780679 RCV001781075 RCV001781079 RCV002223054 RCV000490265 RCV003140925 RCV003141031 RCV003226803 RCV000014106 RCV000665725 RCV000014131 RCV000014132 RCV003479791 RCV000371428 RCV000412448 RCV000410863 RCV000411256 RCV000409949 RCV000410375 RCV000409122 RCV000411420 RCV000409809 RCV000410462 RCV000411348 RCV000412007 RCV000409335 RCV000410837 RCV000411278 RCV000410506 RCV000412077 RCV000409931 RCV000410237 RCV000409468 RCV000409316 RCV000412019 RCV000670753 RCV000664778 RCV000666275 RCV000670091 RCV000671697 RCV000674333 RCV000667827 RCV000668197 RCV000671148 RCV000667116 RCV000666287 RCV000664937 RCV000665059 RCV000666225 RCV001784360

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
-	no classification for the single variant	rs56325145	-
BCHE, flouride 1	Conflicting classifications of pathogenicity	rs28933389	RCV000014112
BCHE, fluoride 2	Conflicting classifications of pathogenicity	rs28933390	RCV000014116
BCHE, J variant	Uncertain significance	rs121918556	RCV000014124
Butyrylcholinesterase activity	Conflicting classifications of pathogenicity	rs1803274	RCV000014120
Postanesthetic apnea	Conflicting classifications of pathogenicity	rs1799807	RCV000014102
Pseudocholinesterase deficiency	Uncertain significance	rs201490686	RCV000415692
See cases	Conflicting classifications of pathogenicity	rs114706984	RCV002252109
Suxamethonium response - slow metabolism	drug response	rs751910853	RCV000659258

Show/Hide Text Mining Associations (89)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
AA amyloidosis	Inhibit	20807286
Acquired Immunodeficiency Syndrome	Associate	32532356
Adenocarcinoma of Lung	Associate	26879013, 32998690
Alzheimer Disease	Associate	10699053, 11015454, 15834019, 17096857, 19199870, 19383604, 19384276, 19617863, 23419831, 25624079, 26293308, 27911294, 30914707, 9863603
Alzheimer Disease	Stimulate	24359497
Alzheimer Disease 15	Associate	26293308
Apnea	Associate	1349196, 1769657, 25054547, 29631548, 7069741, 7205429, 7435932
Asphyxia	Associate	30593143
Atrophy	Associate	19617863
Autism Spectrum Disorder	Associate	31595719
Autistic Disorder	Associate	18555979
Brain Ischemia	Associate	31564827
Breast Neoplasms	Associate	20193849, 23063927
Butyrylcholinesterase deficiency	Associate	25054547, 29631548, 39814397
Butyrylcholinesterase deficiency	Inhibit	25054547, 29631548, 7760318
Butyrylcholinesterase Deficiency Fluoride Resistant Japanese Type	Associate	9058093
Carcinogenesis	Associate	20193849
Carcinoma Hepatocellular	Associate	35236335
Carcinoma Non Small Cell Lung	Associate	28837649
Carcinoma Renal Cell	Stimulate	20883446
Cardiovascular Diseases	Associate	21862451, 37708555
Churg Strauss Syndrome	Associate	2400076
Ciliary Discoordination Due To Random Ciliary Orientation	Associate	32532356
Cognition Disorders	Associate	15834019, 19617863, 28603409
Cognitive Dysfunction	Associate	19617863, 28603409
Colorectal Neoplasms	Associate	16909200
Communicable Diseases	Associate	32532356
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	20227402
Coronary Restenosis	Associate	26497592
COVID 19	Associate	38145047
Cytomegalovirus Infections	Associate	32532356
Death	Associate	32532356
Delayed Emergence from Anesthesia	Associate	25054547
Delirium	Associate	21576115, 35802656
Depressive Disorder	Associate	24417530
Diabetes Mellitus	Associate	17096857
Diabetes Mellitus Type 2	Associate	16150144, 17096857, 20807286
Diffuse Neurofibrillary Tangles with Calcification	Associate	26293308
Drug Related Side Effects and Adverse Reactions	Associate	20807286
Emergence Delirium	Associate	21576115, 32988381
Emergence Delirium	Inhibit	31141559
Endometrial Neoplasms	Associate	35915658
Fibrosis	Associate	22331678
Genetic Diseases Inborn	Associate	7069741
Gestational Trophoblastic Disease	Associate	6314838
Gingival Diseases	Associate	31743516
Glycogen Storage Disease Type II	Stimulate	30025106
Hepatitis B	Associate	32532356
Hepatitis C	Associate	32532356
Hepatitis C Chronic	Associate	22331678, 32532356
Hepatitis Chronic	Associate	22919248
Hepatolenticular Degeneration	Associate	36551217
Hyperglycemia	Associate	24001779
Hyperlipidemias	Associate	8507926
Hypertriglyceridemia	Associate	23000450, 24001779
Idiopathic Pulmonary Fibrosis	Associate	30997486
Inflammation	Associate	29358722, 32532356, 34756920
Insulin Resistance	Associate	17096857
Intellectual Disability	Associate	29631548
Kidney Neoplasms	Associate	20883446
Leprosy	Associate	5070165
Leukemia	Associate	2734315
Leukoencephalopathies	Associate	19617863
Lipid Metabolism Disorders	Associate	38046983
Liver Cirrhosis	Associate	1611188
Liver Cirrhosis Biliary	Associate	33180817
Liver Failure	Associate	23028565
Lung Neoplasms	Associate	28837649
Metabolic Syndrome	Associate	16150144, 18541229, 20807286, 21493754
Movement Disorders	Associate	25835709
Multiple Sclerosis	Associate	25835709, 27916909, 29358722
Myocardial Infarction	Associate	37708555
Neoplasms	Associate	16909200, 20193849, 24417530, 25956553, 35915658
Neoplasms	Inhibit	26879013
Neoplasms Plasma Cell	Associate	7069741
Neurodegenerative Diseases	Associate	25835709, 31217489, 33137939
Obesity	Associate	21862451, 23000450, 24001779, 26424297, 28658346, 31504106
Ototoxicity	Associate	22331678
Paralysis	Associate	27025119
Parkinson Disease	Associate	11015454, 30410011, 33137089
Plaque Amyloid	Associate	23419831, 26293308
Prostatic Neoplasms	Associate	28035996
Pulmonary Disease Chronic Obstructive	Associate	30997486, 38046983
Sleep Apnea Obstructive	Inhibit	32380702
Squamous Cell Carcinoma of Head and Neck	Associate	25956553
Stroke	Associate	20464061
Syphilis	Associate	32532356
Trophoblastic Neoplasms	Associate	6314838
Urinary Bladder Neoplasms	Associate	37632832

BCHE (butyrylcholinesterase)