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Aliases for BCHE Gene

Aliases for BCHE Gene

  • Butyrylcholinesterase 2 3 5
  • Acylcholine Acylhydrolase 3 4
  • Cholinesterase (Serum) 2 2 3
  • Butyrylcholine Esterase 3 4
  • Pseudocholinesterase 3 4
  • Choline Esterase II 3 4
  • Cholinesterase 1 2 3
  • EC 3.1.1.8 4 56
  • CHE1 3 4
  • Cholinesterase 3
  • EC 3.1.1 56
  • CHE2 3
  • E1 3

External Ids for BCHE Gene

Previous HGNC Symbols for BCHE Gene

  • CHE1
  • CHE2

Previous GeneCards Identifiers for BCHE Gene

  • GC03M162635
  • GC03M166531
  • GC03M166892
  • GC03M166811
  • GC03M166973
  • GC03M165490
  • GC03M162859

Summaries for BCHE Gene

Entrez Gene Summary for BCHE Gene

  • 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 and pesticides, and the metabolism of drugs including cocaine, heroin and aspirin. Humans homozygous for certain mutations in this gene exhibit prolonged apnea after administration of the muscle relaxant succinylcholine. [provided by RefSeq, Jul 2016]

GeneCards Summary for BCHE Gene

BCHE (Butyrylcholinesterase) is a Protein Coding gene. Diseases associated with BCHE include Pseudocholinesterase Deficiency and Cocaine Intoxication. Among its related pathways are Peptide hormone metabolism and Neurotransmitter Clearance In The Synaptic Cleft. Gene Ontology (GO) annotations related to this gene include identical protein binding and hydrolase activity. An important paralog of this gene is ACHE.

UniProtKB/Swiss-Prot for BCHE Gene

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

Tocris Summary for BCHE Gene

  • Cholinesterases inactivate the neurotransmitter acetylcholine by catalyzing its hydrolysis to choline and acetic acid. Acetylcholinesterase (AChE) is found in erythroid cells and at neuronal synapses, whilst butyrylcholinesterase is mostly expressed in the liver.

Gene Wiki entry for BCHE Gene

Additional gene information for BCHE Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BCHE Gene

Genomics for BCHE Gene

GeneHancer (GH) Regulatory Elements for BCHE Gene

Promoters and enhancers for BCHE Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03I165836 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE 557.3 +0.2 193 1.4 SMAD1 TAF1 RB1 RAD21 YY1 CHD2 SMARCA5 IRF5 TRIM22 DPF2 BCHE GC03P165675
GH03I165874 Enhancer 0.8 ENCODE 17.2 -37.5 -37518 1.5 SOX13 CTCF FOXA2 SAP130 DMAP1 ZNF644 KMT2B RAD21 ZNF48 ZFHX2 BCHE PIR41015
GH03I165839 Enhancer 0.8 FANTOM5 7.9 -2.4 -2449 0.3 HDGF PKNOX1 SMAD1 RB1 BMI1 ATF7 ZSCAN29 IKZF2 SMARCA5 ZNF687 BCHE PIR41015
GH03I165820 Enhancer 0.7 FANTOM5 5.2 +16.4 16427 0.2 SMAD1 RB1 BMI1 KLF5 ATF7 IKZF2 NR2F1 JUNB TRIM22 DPF2 BCHE GC03P165675
GH03I165875 Enhancer 0.3 ENCODE 11 -38.4 -38376 0.2 CREB1 BCHE PIR41015
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around BCHE on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the BCHE gene promoter:

Genomic Locations for BCHE Gene

Genomic Locations for BCHE Gene
chr3:165,772,904-165,837,472
(GRCh38/hg38)
Size:
64,569 bases
Orientation:
Minus strand
chr3:165,490,692-165,555,260
(GRCh37/hg19)

Genomic View for BCHE Gene

Genes around BCHE on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BCHE Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BCHE Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BCHE Gene

Proteins for BCHE Gene

  • Protein details for BCHE Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P06276-CHLE_HUMAN
    Recommended name:
    Cholinesterase
    Protein Accession:
    P06276
    Secondary Accessions:
    • A8K7P8

    Protein attributes for BCHE Gene

    Size:
    602 amino acids
    Molecular mass:
    68418 Da
    Quaternary structure:
    • Homotetramer; disulfide-linked. Dimer of dimers.

    Three dimensional structures from OCA and Proteopedia for BCHE Gene

neXtProt entry for BCHE Gene

Selected DME Specific Peptides for BCHE Gene

P06276:
  • GVNKDEG
  • AFFYYFEHRS
  • WPEWMGV
  • ITRKEFQEGL
  • LSEDCLYLNVW
  • GSEMWNPN
  • FNDYTSKKE
  • VYDGKFL
  • TKLRAQQCRFWT
  • HGYEIEF
  • QKYLTLN
  • NYRVGALGFLALPGNPEAPGN
  • TEIIKCLRNKD
  • PKPKNATV
  • LALQWVQ
  • NIAAFGG
  • FPGVSEFG
  • VSMNYRVG
  • FGESAGA
  • WIYGGGF
  • YGAPGFSKD
  • DQSFPGF
  • NFGPTVDGDFLTDMP
  • FQTGTSSL
  • QILVGVNKDEGTAFLVYGAPGFSKDN
  • GFLALPG
  • EWKAGFHRW

Post-translational modifications for BCHE Gene

  • N-glycosylated. No other PTM detected (PubMed:20946535). The major N-glycan structures are of the complex diantennary type with 1 and 2 N-acetylneuraminic acid molecules (Neu5Ac) making up approximately 33% and 47% of the total N-glycans, respectively. Only low amounts of fucosylated diantennary N-glycans are detected (approximately 2%). Triantennary N-glycans with or without fucose amount to approximately 13%, whereas 5% of the total N-glycans are of the oligomannosidic or hybrid type.
  • Glycosylation at Asn45, Asn85, Asn134, posLast=269269, Asn284, posLast=369369, Asn483, Asn509, Asn513, and posLast=514514

Other Protein References for BCHE Gene

Domains & Families for BCHE Gene

Gene Families for BCHE Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for BCHE Gene

Graphical View of Domain Structure for InterPro Entry

P06276

UniProtKB/Swiss-Prot:

CHLE_HUMAN :
  • Belongs to the type-B carboxylesterase/lipase family.
Family:
  • Belongs to the type-B carboxylesterase/lipase family.
genes like me logo Genes that share domains with BCHE: view

Function for BCHE Gene

Molecular function for BCHE Gene

GENATLAS Biochemistry:
butyryl cholinesterase,serum,with contradictory evidence for association of the K variant with Alzheimer disease,ApoE4 carrier
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=18.0 uM for butyrylthiocholine (at 25 degrees Celsius) {ECO:0000269 PubMed:25054547};
UniProtKB/Swiss-Prot CatalyticActivity:
An acylcholine + H(2)O = choline + a carboxylate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by mercury. Inhibited by Tabun. Tabun forms a covalent adduct with Ser-226 that becomes irreversible upon aging.
UniProtKB/Swiss-Prot Function:
Esterase with broad substrate specificity. Contributes to the inactivation of the neurotransmitter acetylcholine. Can degrade neurotoxic organophosphate esters.

Enzyme Numbers (IUBMB) for BCHE Gene

Phenotypes From GWAS Catalog for BCHE Gene

Gene Ontology (GO) - Molecular Function for BCHE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001540 amyloid-beta binding NAS 11569538
GO:0003824 catalytic activity NAS 11569538
GO:0003990 acetylcholinesterase activity ISS,IEA --
GO:0004104 cholinesterase activity IDA,IEA 19452557
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with BCHE: view
genes like me logo Genes that share phenotypes with BCHE: view

Animal Models for BCHE Gene

MGI Knock Outs for BCHE:

miRNA for BCHE Gene

miRTarBase miRNAs that target BCHE

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for BCHE Gene

Localization for BCHE Gene

Subcellular locations from UniProtKB/Swiss-Prot for BCHE Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BCHE gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 4
nucleus 3
plasma membrane 2
cytoskeleton 2
mitochondrion 2
cytosol 2
peroxisome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for BCHE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IEA --
GO:0005641 nuclear envelope lumen IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005788 endoplasmic reticulum lumen IEA --
genes like me logo Genes that share ontologies with BCHE: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for BCHE Gene

Pathways & Interactions for BCHE Gene

genes like me logo Genes that share pathways with BCHE: view

Gene Ontology (GO) - Biological Process for BCHE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007584 response to nutrient IEA --
GO:0007612 learning IEA --
GO:0008285 negative regulation of cell proliferation IEA --
GO:0014016 neuroblast differentiation IEA --
GO:0019695 choline metabolic process IEA --
genes like me logo Genes that share ontologies with BCHE: view

No data available for SIGNOR curated interactions for BCHE Gene

Drugs & Compounds for BCHE Gene

(145) Drugs for BCHE Gene - From: DrugBank, PharmGKB, ApexBio, DGIdb, FDA Approved Drugs, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Rivastigmine Approved, Investigational Pharma Target, inhibitor Cholinesterase inhibitor 82
Bambuterol Approved, Investigational Pharma Enzyme, substrate, inhibitor, agonist 4
Succinylcholine Approved Pharma Full agonist, Agonist, Enzyme, substrate 57
Demecarium Approved Pharma Target, inhibitor 0
Hexafluronium Approved Pharma Target, inhibitor 0

(78) Additional Compounds for BCHE Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Arachidic acid
  • Arachate
  • Arachic acid
  • Arachidate
  • Arachidic acid
  • Eicosanoate
506-30-9
Heptadecanoic acid
  • Heptadecanoate
  • Heptadecanoic acid
  • Margarate
  • Margaric acid
  • Margarinate
506-12-7
Heptadecanoyl CoA
  • Heptadecanoate
  • Heptadecanoic acid
  • Heptadecanoic acid coa
  • Heptadecanoyl coenzyme A
  • Heptadecanoyl-coA
3546-17-6
Pentadecanoic acid
  • N-Pentadecanoate
  • N-Pentadecanoic acid
  • N-Pentadecylate
  • N-Pentadecylic acid
  • Pentadecanoate
1002-84-2
R-95913

(4) Tocris Compounds for BCHE Gene

Compound Action Cas Number
Ambenonium dichloride Cholinesterase inhibitor 115-79-7
Phenserine Cholinesterase inhibitor 101246-66-6
Physostigmine hemisulfate Cholinesterase inhibitor 64-47-1
Tacrine hydrochloride Cholinesterase inhibitor 1684-40-8

(11) ApexBio Compounds for BCHE Gene

Compound Action Cas Number
Acephate 30560-19-1
Ambenonium dichloride 115-79-7
GSK 264220A 685506-42-7
JW 642 1416133-89-5
KML 29 1380424-42-9
Neostigmine Bromide Cholinesterase inhibitor 114-80-7
PE 154 1192750-33-6
Phenserine 101246-66-6
Physostigmine hemisulfate 64-47-1
Pristimerin 1258-84-0
Tacrine hydrochloride 1684-40-8
genes like me logo Genes that share compounds with BCHE: view

Drug Products

Transcripts for BCHE Gene

Unigene Clusters for BCHE Gene

Butyrylcholinesterase:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for BCHE Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b
SP1: -
SP2: -
SP3: - -
SP4: - - -

Relevant External Links for BCHE Gene

GeneLoc Exon Structure for
BCHE
ECgene alternative splicing isoforms for
BCHE

Expression for BCHE Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for BCHE Gene

mRNA differential expression in normal tissues according to GTEx for BCHE Gene

This gene is overexpressed in Fallopian Tube (x5.7), Liver (x5.5), Esophagus - Muscularis (x4.4), and Esophagus - Gastroesophageal Junction (x4.0).

Protein differential expression in normal tissues from HIPED for BCHE Gene

This gene is overexpressed in Serum (34.6), Plasma (13.4), and Synovial fluid (8.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for BCHE Gene



NURSA nuclear receptor signaling pathways regulating expression of BCHE Gene:

BCHE

SOURCE GeneReport for Unigene cluster for BCHE Gene:

Hs.420483

mRNA Expression by UniProt/SwissProt for BCHE Gene:

P06276-CHLE_HUMAN
Tissue specificity: Detected in blood plasma (at protein level). Present in most cells except erythrocytes.

Evidence on tissue expression from TISSUES for BCHE Gene

  • Nervous system(4.9)
  • Liver(4.7)
  • Skin(4.3)
  • Stomach(4.2)
  • Bone marrow(4)
  • Blood(3)
  • Muscle(2.5)
  • Adrenal gland(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for BCHE Gene

Germ Layers:
  • endoderm
  • mesoderm
Systems:
  • respiratory
  • skeletal muscle
Organs:
Thorax:
  • lung
genes like me logo Genes that share expression patterns with BCHE: view

No data available for Protein tissue co-expression partners for BCHE Gene

Orthologs for BCHE Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for BCHE Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BCHE 33 34
  • 99.5 (n)
cow
(Bos Taurus)
Mammalia BCHE 33 34
  • 90.14 (n)
dog
(Canis familiaris)
Mammalia BCHE 33 34
  • 89.26 (n)
rat
(Rattus norvegicus)
Mammalia Bche 33
  • 81.51 (n)
mouse
(Mus musculus)
Mammalia Bche 33 16 34
  • 80.91 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia BCHE 34
  • 78 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia BCHE 34
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves BCHE 33 34
  • 73.19 (n)
lizard
(Anolis carolinensis)
Reptilia BCHE 34
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100495889 33
  • 69.16 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG6018 35
  • 40 (a)
alpha-Est3 35
  • 39 (a)
Ace 35 34
  • 37 (a)
alpha-Est8 35
  • 36 (a)
CG3841 35
  • 35 (a)
Est-P 35
  • 34 (a)
Est-6 35
  • 32 (a)
alpha-Est7 35
  • 30 (a)
CG6414 35
  • 30 (a)
CG7529 35
  • 30 (a)
CG8424 35
  • 30 (a)
Gli 35
  • 30 (a)
alpha-Est10 35
  • 29 (a)
alpha-Est9 35
  • 29 (a)
BcDNA:GH05741 35
  • 29 (a)
CG4382 35
  • 29 (a)
Jhe 35
  • 29 (a)
alpha-Est2 35
  • 28 (a)
alpha-Est4 35
  • 28 (a)
CG10175 35
  • 28 (a)
clt 35
  • 28 (a)
alpha-Est6 35
  • 27 (a)
CG5397 35
  • 27 (a)
alpha-Est5 35
  • 25 (a)
worm
(Caenorhabditis elegans)
Secernentea R173.3 35
  • 42 (a)
ace-1 35 34
  • 40 (a)
T07H6.1a 35
  • 40 (a)
ace-4 35 34
  • 39 (a)
ace-2 35 34
  • 37 (a)
ace-3 35 34
  • 37 (a)
B0238.13 35
  • 37 (a)
T28C12.5 35
  • 37 (a)
Y75B8A.3 35
  • 36 (a)
F13H6.3 35
  • 32 (a)
C52A10.1 35
  • 31 (a)
K11G9.1 35
  • 31 (a)
B0238.1 35
  • 30 (a)
B0238.7 35
  • 30 (a)
C52A10.2 35
  • 30 (a)
K11G9.2 35
  • 30 (a)
K11G9.3 35
  • 30 (a)
F07C4.12 35
  • 29 (a)
F55D10.3 35
  • 29 (a)
ges-1 35
  • 29 (a)
K07C11.4 35
  • 29 (a)
T28C12.4a 35
  • 29 (a)
T28C12.4b 35
  • 29 (a)
F15A8.6 35
  • 28 (a)
Y71H2AM.13 35
  • 28 (a)
T02B5.3 35
  • 26 (a)
T02B5.1 35
  • 23 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU06573 33
  • 41.93 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 32 (a)
OneToMany
Species where no ortholog for BCHE was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • zebrafish (Danio rerio)

Evolution for BCHE Gene

ENSEMBL:
Gene Tree for BCHE (if available)
TreeFam:
Gene Tree for BCHE (if available)

Paralogs for BCHE Gene

Paralogs for BCHE Gene

genes like me logo Genes that share paralogs with BCHE: view

Variants for BCHE Gene

Sequence variations from dbSNP and Humsavar for BCHE Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs104893684 conflicting-interpretations-of-pathogenicity, Deficiency of butyrylcholine esterase, Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400] 165,830,030(-) A/G coding_sequence_variant, missense_variant
rs1057516450 likely-pathogenic, Deficiency of butyrylcholine esterase 165,829,961(-) AAAAAA/AAAAAAA coding_sequence_variant, frameshift
rs1057516482 likely-pathogenic, Deficiency of butyrylcholine esterase 165,786,301(-) C/A coding_sequence_variant, stop_gained
rs1057516496 likely-pathogenic, Deficiency of butyrylcholine esterase 165,786,144(-) C/A/T splice_donor_variant
rs1057516707 likely-pathogenic, Deficiency of butyrylcholine esterase 165,830,541(-) C/ coding_sequence_variant, frameshift

Structural Variations from Database of Genomic Variants (DGV) for BCHE Gene

Variant ID Type Subtype PubMed ID
dgv4977n100 CNV loss 25217958
dgv8724n54 CNV loss 21841781
esv2657931 CNV deletion 23128226
esv3324020 CNV insertion 20981092
esv3342369 CNV insertion 20981092
esv3598510 CNV loss 21293372
esv3598511 CNV loss 21293372
esv3598513 CNV loss 21293372
esv3598515 CNV loss 21293372
esv3598516 CNV gain 21293372
esv3893808 CNV loss 25118596
nsv1004712 CNV gain 25217958
nsv428426 CNV loss 18775914
nsv520596 CNV gain+loss 19592680
nsv592472 CNV gain 21841781

Variation tolerance for BCHE Gene

Residual Variation Intolerance Score: 81.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.64; 82.79% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BCHE Gene

Human Gene Mutation Database (HGMD)
BCHE
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BCHE

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BCHE Gene

Disorders for BCHE Gene

MalaCards: The human disease database

(17) MalaCards diseases for BCHE Gene - From: HGMD, ClinVar, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
pseudocholinesterase deficiency
  • apnea, postanesthetic
cocaine intoxication
curariform drugs toxicity
vascular dementia
  • multi infarct dementia
functional colonic disease
  • colonic diseases, functional
- elite association - COSMIC cancer census association via MalaCards
Search BCHE in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CHLE_HUMAN
  • Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]: A metabolic disorder characterized by prolonged apnea after the use of certain anesthetic drugs, including the muscle relaxants succinylcholine or mivacurium and other ester local anesthetics. 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.

Genatlas disease for BCHE Gene

apnea,postanesthetic,suxamethonium sensitivity,hypocholinesterasemia or acholinesterasemia

Additional Disease Information for BCHE

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with BCHE: view

Publications for BCHE Gene

  1. Naturally occurring mutation Leu307Pro of human butyrylcholinesterase in the Vysya community of India. (PMID: 16788378) Manoharan I … Boopathy R (Pharmacogenetics and genomics 2006) 3 4 22 44 58
  2. Butyrylcholinesterase (BCHE) genotyping for post-succinylcholine apnea in an Australian population. (PMID: 12881446) Yen T … Stewart PM (Clinical chemistry 2003) 3 4 22 44 58
  3. Progression from mild cognitive impairment to Alzheimer's disease: effects of sex, butyrylcholinesterase genotype, and rivastigmine treatment. (PMID: 19617863) Ferris S … Lane R (Pharmacogenetics and genomics 2009) 3 22 44 58
  4. Variability of AChE, BChE, and ChAT genes in the late-onset form of Alzheimer's disease and relationships with response to treatment with Donepezil and Rivastigmine. (PMID: 18780301) Scacchi R … Corbo RM (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2009) 3 22 44 58
  5. Five new naturally occurring mutations of the BCHE gene and frequencies of 12 butyrylcholinesterase alleles in a Brazilian population. (PMID: 18300943) Mikami LR … Chautard-Freire-Maia EA (Pharmacogenetics and genomics 2008) 3 4 22 58

Products for BCHE Gene

Sources for BCHE Gene

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