CES2

carboxylesterase 2, the group of Carboxylesterases

Basic information

Region (hg38): 16:66934444-66945096

Links

ENSG00000172831 ∙ NCBI:8824 ∙ OMIM:605278 ∙ HGNC:1864 ∙ Uniprot:O00748 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CES2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CES2 gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				2	1	3
missense			33	2		35
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			9	1		10
Total	0	0	42	5	1

Variants in CES2

This is a list of pathogenic ClinVar variants found in the CES2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
16-66935448-C-G			Likely benign (Jun 15, 2018)
16-66935493-G-A		not specified	Uncertain significance (Sep 17, 2021)
16-66935528-A-T		not specified	Uncertain significance (Aug 19, 2024)
16-66935529-C-T		not specified	Uncertain significance (Oct 26, 2021)
16-66935536-G-T		not specified	Uncertain significance (Oct 06, 2024)
16-66935541-G-A		not specified	Uncertain significance (Jul 11, 2023)
16-66935571-C-T		not specified	Uncertain significance (Aug 31, 2022)
16-66935580-C-T		not specified	Uncertain significance (Jan 29, 2024)
16-66935607-G-A		not specified	Uncertain significance (Dec 03, 2024)
16-66935620-G-T		not specified	Uncertain significance (Sep 25, 2023)
16-66935654-C-T		not specified	Uncertain significance (Jun 16, 2024)
16-66935658-C-A		not specified	Uncertain significance (Dec 07, 2024)
16-66935686-T-C			Likely benign (Dec 01, 2022)
16-66935703-G-A		not specified	Likely benign (Apr 12, 2024)
16-66938099-C-T		not specified	Uncertain significance (Jan 29, 2024)
16-66938190-A-C		not specified	Uncertain significance (Oct 03, 2022)
16-66938235-C-G		not specified	Uncertain significance (Dec 03, 2024)
16-66939219-G-A		not specified	Uncertain significance (Apr 19, 2024)
16-66939330-C-T		not specified	Uncertain significance (Oct 27, 2021)
16-66939356-C-G		not specified	Uncertain significance (Oct 12, 2022)
16-66940239-C-T			Likely benign (Dec 01, 2022)
16-66940249-C-T		not specified	Uncertain significance (Sep 14, 2022)
16-66940478-A-G		not specified	Uncertain significance (Feb 17, 2023)
16-66940516-G-C		not specified	Uncertain significance (Jul 21, 2021)
16-66940541-G-A		not specified	Uncertain significance (Aug 16, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CES2	protein_coding	protein_coding	ENST00000317091	12	10653

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.58e-16	0.0203	125568	0	180	125748	0.000716

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.372	351	371	0.946	0.0000220	4068
Missense in Polyphen		93	120.47	0.772		1445
Synonymous	0.514	150	158	0.948	0.0000104	1272
Loss of Function	0.374	25	27.1	0.922	0.00000129	279

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00268	0.00268
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.000489	0.000489
Finnish	0.000555	0.000554
European (Non-Finnish)	0.000538	0.000536
Middle Eastern	0.000489	0.000489
South Asian	0.000556	0.000555
Other	0.000326	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Involved in the detoxification of xenobiotics and in the activation of ester and amide prodrugs (PubMed:9169443). Shows high catalytic efficiency for hydrolysis of cocaine, 4- methylumbelliferyl acetate, heroin and 6-monoacetylmorphine (PubMed:9169443). Hydrolyzes aspirin, substrates with large alcohol group and small acyl group and endogenous lipids such as triacylglycerol (PubMed:28677105). {ECO:0000269|PubMed:9169443, ECO:0000303|PubMed:28677105}.
• Pathway: Drug metabolism - other enzymes - Homo sapiens (human);Fluoropyrimidine Pathway, Pharmacokinetics;Mycophenolic acid Pathway, Pharmacokinetics;Mycophenolic acid Pathway, Pharmacokinetics/Pharmacodynamics;Irinotecan Pathway, Pharmacokinetics;Irinotecan Pathway, Pharmacodynamics;Mycophenolic Acid Metabolism Pathway;Heroin Metabolism Pathway;Irinotecan Action Pathway;Heroin Action Pathway;Irinotecan Metabolism Pathway;Phase I biotransformations, non P450;Fluoropyrimidine Activity;Irinotecan Pathway;Heroin metabolism;Nuclear Receptors Meta-Pathway;NRF2 pathway;Phase I - Functionalization of compounds;Biological oxidations;Metabolism;retinol biosynthesis;E2F transcription factor network (Consensus)

Recessive Scores

• pRec: 0.141

Intolerance Scores

• loftool: 0.930
• rvis_EVS: -0.86
• rvis_percentile_EVS: 10.85

Haploinsufficiency Scores

• pHI: 0.0726
• hipred: N
• hipred_score: 0.146
• ghis: 0.475

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.297

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Ces2h

Gene ontology

• Biological process: prostaglandin metabolic process;xenobiotic metabolic process;catabolic process
• Cellular component: extracellular space;endoplasmic reticulum;endoplasmic reticulum lumen
• Molecular function: methylumbelliferyl-acetate deacetylase activity;carboxylic ester hydrolase activity