GeneBe

BCHE

butyrylcholinesterase

Basic information

Region (hg38): 3:165772904-165837462

Previous symbols: [ "CHE1", "CHE2" ]

Links

ENSG00000114200 ∙ NCBI:590 ∙ OMIM:177400 ∙ HGNC:983 ∙ Uniprot:P06276 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

  • butyrylcholinesterase deficiency (Definitive), mode of inheritance: Unknown
  • butyrylcholinesterase deficiency (Definitive), mode of inheritance: AR
  • butyrylcholinesterase deficiency (Supportive), mode of inheritance: AR
  • butyrylcholinesterase deficiency (Strong), mode of inheritance: AR
  • butyrylcholinesterase deficiency (Definitive), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

ConditionInheritanceIntervention CategoriesIntervention/Rationale Manifestation CategoriesReferences
Butyrlcholinesterase deficiencyARPharmacogenomicIndividuals have prolonged apnea upon use of specific anesthetics (ie, suxamethonium, succinylcholine)Biochemical13711731; 14465122; 4984470; 3741370; 3225823; 2915989; 2911599; 2013061; 1662391; 1349196; 1415224; 8554068; 9543549; 9302273; 9110359; 9388484; 10190327; 10699053; 12881446; 16788378; 18075469; 18555211; 21029050

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the BCHE gene.

  • Deficiency_of_butyrylcholinesterase (100 variants)
  • Inborn_genetic_diseases (73 variants)
  • not_provided (25 variants)
  • not_specified (16 variants)
  • BCHE-related_disorder (10 variants)
  • BCHE,_fluoride_2 (1 variants)
  • BCHE,_J_variant (1 variants)
  • BCHE,_H_variant (1 variants)
  • Suxamethonium_response_-_slow_metabolism (1 variants)
  • See_cases (1 variants)
  • Postanesthetic_apnea (1 variants)
  • Butyrylcholinesterase_deficiency,_fluoride-resistant,_Japanese_type (1 variants)
  • BCHE,_flouride_1 (1 variants)
  • Pseudocholinesterase_deficiency (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BCHE gene is commonly pathogenic or not. These statistics are base on transcript: NM_000000055.4. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
1
clinvar
8
clinvar
6
clinvar
 15
missense
5
clinvar
11
clinvar
96
clinvar
7
clinvar
 119
nonsense
2
clinvar
21
clinvar
1
clinvar
 24
start loss
1
 1
frameshift
2
clinvar
20
clinvar
2
clinvar
 24
splice donor/acceptor (+/-2bp)
4
clinvar
 4
Total 10 56 108 13 0

Highest pathogenic variant AF is 0.016023481

Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
BCHEprotein_codingprotein_codingENST00000264381 364569
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
1.06e-130.042012543613011257380.00120
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-1.043673151.160.00001523975
Missense in Polyphen139113.991.21951409
Synonymous0.1281071090.9840.000005361125
Loss of Function0.3412122.80.9230.00000120283

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.001700.00169
Ashkenazi Jewish0.005060.00507
East Asian0.002940.00294
Finnish0.000.00
European (Non-Finnish)0.0008740.000853
Middle Eastern0.002940.00294
South Asian0.001500.00147
Other0.001310.00130

dbNSFP

Source: dbNSFP

Function
FUNCTION: Esterase with broad substrate specificity. Contributes to the inactivation of the neurotransmitter acetylcholine. Can degrade neurotoxic organophosphate esters. {ECO:0000269|PubMed:19452557, ECO:0000269|PubMed:19542320}.;
Disease
DISEASE: Butyrylcholinesterase deficiency (BCHED) [MIM:617936]: An autosomal recessive metabolic condition characterized by increased sensitivity to certain anesthetic drugs, including the muscle relaxants succinylcholine or mivacurium. BCHED results in slower hydrolysis of these drugs and, consequently, a prolonged neuromuscular block, leading to apnea. The duration of the prolonged apnea varies significantly depending on the extent of the enzyme deficiency. {ECO:0000269|PubMed:10404729, ECO:0000269|PubMed:11928765, ECO:0000269|PubMed:12881446, ECO:0000269|PubMed:1306123, ECO:0000269|PubMed:1349196, ECO:0000269|PubMed:1415224, ECO:0000269|PubMed:15563885, ECO:0000269|PubMed:15781196, ECO:0000269|PubMed:1611188, ECO:0000269|PubMed:16788378, ECO:0000269|PubMed:17700357, ECO:0000269|PubMed:18075469, ECO:0000269|PubMed:18300943, ECO:0000269|PubMed:25054547, ECO:0000269|PubMed:25264279, ECO:0000269|PubMed:2915989, ECO:0000269|PubMed:7634491, ECO:0000269|PubMed:8554068, ECO:0000269|PubMed:8680411, ECO:0000269|PubMed:9110359, ECO:0000269|PubMed:9191541, ECO:0000269|PubMed:9388484, ECO:0000269|PubMed:9543549, ECO:0000269|PubMed:9694584}. Note=The disease is caused by mutations affecting the gene represented in this entry.;
Pathway
Irinotecan Pathway, Pharmacokinetics;Irinotecan Pathway, Pharmacodynamics;Heroin Metabolism Pathway;Irinotecan Action Pathway;Heroin Action Pathway;Irinotecan Metabolism Pathway;Irinotecan Pathway;Heroin metabolism;Cocaine metabolism;Peptide hormone metabolism;Metabolism of lipids;Synthesis, secretion, and deacylation of Ghrelin;Metabolism of proteins;Metabolism;Synthesis of PC;Neuronal System;Neurotransmitter clearance;Transmission across Chemical Synapses;Glycerophospholipid biosynthesis;Phospholipid metabolism (Consensus)

Recessive Scores

pRec
0.505

Intolerance Scores

loftool
0.416
rvis_EVS
0.78
rvis_percentile_EVS
87.21

Haploinsufficiency Scores

pHI
0.243
hipred
N
hipred_score
0.250
ghis
0.406

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.536

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Bche
Phenotype
mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); homeostasis/metabolism phenotype;

Gene ontology

Biological process
learning;negative regulation of cell population proliferation;neuroblast differentiation;choline metabolic process;response to alkaloid;cocaine metabolic process;negative regulation of synaptic transmission;response to glucocorticoid;response to folic acid
Cellular component
extracellular region;nuclear envelope lumen;endoplasmic reticulum lumen;membrane;blood microparticle
Molecular function
amyloid-beta binding;catalytic activity;acetylcholinesterase activity;cholinesterase activity;hydrolase activity, acting on ester bonds;enzyme binding;choline binding;identical protein binding