CES5A

protein-coding

carboxylesterase 5A, the group of Carboxylesterases

Gene 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 also participate in fatty acyl and cholesterol ester metabolism, and may play a role in the blood-brain barrier system. This gene, also called CES5, is predominantly expressed in peripheral tissues, including brain, kidney, lung and testis. It encodes a secreted enzyme. Because of high levels in the urine of male domestic cats, this enzyme is also called cauxin (carboxylesterase-like urinary excreted protein). The enzyme functions in regulating the production of a pheromone precursor and may contribute to lipid and cholesterol transfer processes within male reproductive fluids. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]

Previous symbols:

CES7

MANE transcript

NM_001143685.2

Inheritance

—

ClinVar variants

U:72B:8

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.21

Max pathogenic AF

—

Genomic locus

chr16:55,846,154-55,956,031

External References & Databases

Ensembl (ENSG00000159398)

Transcript & Mutation Effects

hg38 • Region Span ~109.9 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to CES5A variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 77

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001143685.2. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous					1 clinvar	1
missense			72 clinvar	7 clinvar		79
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	72	7	1	80

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 16 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001143685.2	RefSeq	NP_001137157.1	13	MANE Select
ENST00000290567.14	Ensembl	ENSP00000290567.9	13	MANE Select
NM_001190158.1	RefSeq	NP_001177087.1	14	Standard
NM_145024.3	RefSeq	NP_659461.1	12	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Phase I biotransformations, non P450
Nuclear Receptors Meta-Pathway
NRF2 pathway
retinol biosynthesis
E2F transcription factor network

Biological Process

lipid catabolic process

Molecular Function

sterol esterase activity
triglyceride lipase activity
carboxylic ester hydrolase activity

Cellular Component

extracellular space

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000521992
Coding exons: 14
Length: 109878
Individuals with no LoFs: 101869
Homozygous LoFs: 1421
Heterozygous LoFs: 22458
Defined: 125748
p: 0.0999

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.111	337	331	1.02	0.0000179	3896
Missense (PolyPhen)		140	124.52	1.1243		1556
Synonymous	-0.411	142	136	1.04	0.00000793	1210
Loss of Function	-1.10	39	32.3	1.21	0.00000205	332

Population LoF Frequency

Population	CAF	p-value	Status
African	0.13	0.13	notable
Latino/Admixed American	0.073	0.072	notable
Ashkenazi Jewish	0.13	0.13	notable
East Asian	0.037	0.038	notable
Finnish	0.19	0.19	notable
European (Non-Finnish)	0.11	0.11	notable
South Asian	0.037	0.037	notable
Other	0.11	0.11	notable

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Involved in the detoxification of xenobiotics and in the activation of ester and amide prodrugs. {ECO:0000250}.;

Recessive Scores

pRec: 0.136

Intolerance Scores

RVIS EVS: 1.81
RVIS percentile EVS: 96.95

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.796

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High