CES2 carboxylesterase 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CES2provided by HGNC
Official Full Name: carboxylesterase 2provided by HGNC
Primary source: HGNC:HGNC:1864
See related: Ensembl:ENSG00000172831 MIM:605278; AllianceGenome:HGNC:1864
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: iCE; CE-2; PCE-2; CES2A1
Summary: This gene encodes a member of the carboxylesterase large family. The family members are responsible for the hydrolysis or transesterification of various xenobiotics, such as cocaine and heroin, and endogenous substrates with ester, thioester, or amide bonds. They may participate in fatty acyl and cholesterol ester metabolism, and may play a role in the blood-brain barrier system. The protein encoded by this gene is the major intestinal enzyme and functions in intestine drug clearance. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Oct 2010]
Expression: Biased expression in duodenum (RPKM 209.7), small intestine (RPKM 176.0) and 8 other tissues See more
Orthologs: all
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Genomic context

Location:: 16q22.1

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (66934471..66945096)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (72728771..72739396)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (66968374..66978999)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Carboxylesterase 2 induces mitochondrial dysfunction via disrupting lipid homeostasis in oral squamous cell carcinoma.
Title: Carboxylesterase 2 induces mitochondrial dysfunction via disrupting lipid homeostasis in oral squamous cell carcinoma.
The COVID-19 Oral Drug Molnupiravir Is a CES2 Substrate: Potential Drug-Drug Interactions and Impact of CES2 Genetic Polymorphism In Vitro.
Title: The COVID-19 Oral Drug Molnupiravir Is a CES2 Substrate: Potential Drug-Drug Interactions and Impact of CES2 Genetic Polymorphism In Vitro.
LncRNA KCNQ1OT1 ameliorates the liver injury induced by acetaminophen through the regulation of miR-122-5p/CES2 axis.
Title: LncRNA KCNQ1OT1 ameliorates the liver injury induced by acetaminophen through the regulation of miR-122-5p/CES2 axis.
Discovery of hCES2A inhibitors from Glycyrrhiza inflata via combination of docking-based virtual screening and fluorescence-based inhibition assays.
Title: Discovery of hCES2A inhibitors from Glycyrrhiza inflata via combination of docking-based virtual screening and fluorescence-based inhibition assays.
Identification and Characterization of a New Carboxylesterase 2 Isozyme, mfCES2C, in the Small Intestine of Cynomolgus Monkeys.
Title: Identification and Characterization of a New Carboxylesterase 2 Isozyme, mfCES2C, in the Small Intestine of Cynomolgus Monkeys.
Overexpressed CES2 has prognostic value in CRC and knockdown CES2 reverses L-OHP-resistance in CRC cells by inhibition of the PI3K signaling pathway.
Title: Overexpressed CES2 has prognostic value in CRC and knockdown CES2 reverses L-OHP-resistance in CRC cells by inhibition of the PI3K signaling pathway.
Prognostic Impact of Carboxylesterase 2 in Cholangiocarcinoma.
Title: Prognostic Impact of Carboxylesterase 2 in Cholangiocarcinoma.
The T/T genotype of the polymorphism rs2241409 in CES2 gene is associated with graft rejection during kidney transplantation.
Title: Polymorphisms in IMPDH2, UGT2B7, and CES2 genes influence the risk of graft rejection in kidney transplant recipients taking mycophenolate mofetil.
Effect of genetic variation of NAT2 on isoniazid and SLCO1B1 and CES2 on rifampin pharmacokinetics in Ghanaian children with tuberculosis has been reported.
Title: Effect of Genetic Variation of NAT2 on Isoniazid and SLCO1B1 and CES2 on Rifampin Pharmacokinetics in Ghanaian Children with Tuberculosis.
High expression of TOPO-1 and CES-2 are correlated with longer progression free and overall survival in irinotecan treated metastatic colorectal cancer patients.
Title: Expression of Topoisomerase 1 and carboxylesterase 2 correlates with irinotecan treatment response in metastatic colorectal cancer.

Submit: New GeneRIF Correction See all GeneRIFs (53)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH71242 (e-PCR)
- UniSTS:75791

RH47644 (e-PCR)
- UniSTS:5138

CES2_1222 (e-PCR)
- UniSTS:277095

D16S3339 (e-PCR)
- UniSTS:4781

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables carboxylesterase activity	IDA Inferred from Direct Assay more info	PubMed
enables carboxylesterase activity	TAS Traceable Author Statement more info
enables carboxylic ester hydrolase activity	IBA Inferred from Biological aspect of Ancestor more info
enables methylumbelliferyl-acetate deacetylase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in catabolic process	TAS Traceable Author Statement more info	PubMed
involved_in prostaglandin metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in xenobiotic metabolic process	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
located_in endoplasmic reticulum	TAS Traceable Author Statement more info	PubMed
located_in endoplasmic reticulum lumen	TAS Traceable Author Statement more info
is_active_in intracellular membrane-bounded organelle	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: cocaine esterase

Names: carboxylesterase 2 (intestine, liver); intestinal carboxylesterase; liver carboxylesterase-2; methylumbelliferyl-acetate deacetylase 2

NP_001352334.1

EC 3.1.1.1

EC 3.1.1.56

EC 3.1.1.84

NP_001352335.1

EC 3.1.1.1

EC 3.1.1.56

EC 3.1.1.84

NP_001352336.1

EC 3.1.1.1

EC 3.1.1.56

EC 3.1.1.84

NP_001352337.1

EC 3.1.1.1

EC 3.1.1.56

EC 3.1.1.84

NP_003860.3

EC 3.1.1.1

EC 3.1.1.56

EC 3.1.1.84

NP_932327.2

EC 3.1.1.1

EC 3.1.1.56

EC 3.1.1.84

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001365405.1 → NP_001352334.1 cocaine esterase isoform 1 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (4) contains the same exon structure as variant 1, but contains a shorter 5' UTR. This represents use of a different promoter, relative to variant 1. This promoter is the dominant promoter used in some tissue types.

Source sequence(s)

BC032095, BX538086

Consensus CDS

CCDS10825.2

UniProtKB/Swiss-Prot

A0A024R6X1, A8K367, O00748, Q16859, Q5MAB8, Q7Z366, Q8IUP4, Q8TCP8

UniProtKB/TrEMBL

Q53H57

Related

ENSP00000317842.5, ENST00000317091.10

Conserved Domains (1) summary

pfam00135
Location:30 → 538

COesterase; Carboxylesterase family
NM_001365406.1 → NP_001352335.1 cocaine esterase isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR, resulting in the use of a downtream start codon, relative to variant 1. The encoded isoform (3) has a shorter N-terminus than isoform 1.

Source sequence(s)

AK095522, BC032095, BX538086

UniProtKB/TrEMBL

Q53H57

Conserved Domains (1) summary

pfam00135
Location:1 → 445

COesterase; Carboxylesterase family
NM_001365407.1 → NP_001352336.1 cocaine esterase isoform 3

Status: REVIEWED

Source sequence(s)

AC009084

UniProtKB/TrEMBL

Q53H57

Conserved Domains (1) summary

pfam00135
Location:1 → 445

COesterase; Carboxylesterase family
NM_001365408.1 → NP_001352337.1 cocaine esterase isoform 4

Status: REVIEWED

Source sequence(s)

AC009084

Conserved Domains (1) summary

pfam00135
Location:1 → 429

COesterase; Carboxylesterase family
NM_003869.6 → NP_003860.3 cocaine esterase isoform 1 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1) and contains a longer 5' UTR than some of the other variants. This variant represent use of an alternate promote that is used in some tissues, and uses a downstream start codon. The upstream start codon is not well conserved.

Source sequence(s)

BC032095, BX538086

Consensus CDS

CCDS10825.2

UniProtKB/Swiss-Prot

A0A024R6X1, A8K367, O00748, Q16859, Q5MAB8, Q7Z366, Q8IUP4, Q8TCP8

UniProtKB/TrEMBL

Q53H57

Conserved Domains (1) summary

pfam00135
Location:30 → 538

COesterase; Carboxylesterase family
NM_198061.3 → NP_932327.2 cocaine esterase isoform 2 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (2) has a shorter 5' UTR and lacks an internal in-frame segment in the coding region, as compared to variant 1. The encoded isoform (2) is thus shorter than isoform 1.

Source sequence(s)

BC032095, BX538086

Consensus CDS

CCDS45507.2

UniProtKB/TrEMBL

Q53H57

Related

ENSP00000394452.2, ENST00000417689.6

Conserved Domains (1) summary

pfam00135
Location:30 → 522

COesterase; Carboxylesterase family