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    CES2 carboxylesterase 2 [ Homo sapiens (human) ]

    Gene ID: 8824, updated on 26-Nov-2024

    Summary

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    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

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    See CES2 in Genome Data Viewer
    Location:
    16q22.1
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (66934471..66945096)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (72728771..72739396)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (66968374..66978999)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:66955545-66956068 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:66956069-66956592 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7571 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7572 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:66961058-66962257 Neighboring gene RRAD, Ras related glycolysis inhibitor and calcium channel regulator Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10945 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10946 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:66969029-66969641 Neighboring gene cytosolic iron-sulfur assembly component 2B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:66974461-66974960 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr16:66975020-66976219 Neighboring gene uncharacterized LOC107984881 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7573 Neighboring gene MPRA-validated peak2620 silencer Neighboring gene MPRA-validated peak2621 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10947 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10948 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:66994865-66995366 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:66997641-66998558 Neighboring gene carboxylesterase 3 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr16:67004920-67006119 Neighboring gene Sharpr-MPRA regulatory region 4953

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Carboxylesterase 2 induces mitochondrial dysfunction via disrupting lipid homeostasis in oral squamous cell carcinoma. Chen X, et al. Mol Metab, 2022 Nov. PMID 36113774, Free PMC Article
    2. Relationship between CES2 genetic variations and rifampicin metabolism. Song SH, et al. J Antimicrob Chemother, 2013 Jun. PMID 23471941
    3. Clinical implications of CES2 RNA expression in neuroblastoma. Uchida K, et al. J Pediatr Surg, 2013 Mar. PMID 23480903
    4. Characterization of multiple promoters in the human carboxylesterase 2 gene. Wu MH, et al. Pharmacogenetics, 2003 Jul. PMID 12835618
    5. Decreased serum levels of carboxylesterase-2 in patients with ovarian cancer. Cai L, et al. Tumori, 2009 Jul-Aug. PMID 19856659

    See all (83) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. 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.
    3. 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.
    4. 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.
    5. 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.
    6. 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.
    7. Prognostic Impact of Carboxylesterase 2 in Cholangiocarcinoma.
      Title: Prognostic Impact of Carboxylesterase 2 in Cholangiocarcinoma.
    8. 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.
    9. 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.
    10. 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)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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
    NP_001352335.1
    NP_001352336.1
    NP_001352337.1
    NP_003860.3
    NP_932327.2

    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)

    1. 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

    2. 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

    3. 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

    4. 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

    5. 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

    6. 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

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      66934471..66945096
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      72728771..72739396
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O00748.1 GenPept UniProtKB/Swiss-Prot:O00748

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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