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 syst... See more...

Aliases for CES4A Gene

Aliases for CES4A Gene

  • Carboxylesterase 4A 2 3 4 5
  • Carboxylesterase 8 (Putative) 2 3
  • CES8 3 4
  • Carboxylesterase 6 3
  • EC 3.1.1.- 4
  • FLJ37464 2
  • CES4A 5
  • CES6 3

External Ids for CES4A Gene

Previous HGNC Symbols for CES4A Gene

  • CES8

Previous GeneCards Identifiers for CES4A Gene

  • GC16P067023

Summaries for CES4A Gene

Entrez Gene Summary for CES4A Gene

  • 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 CES6, encodes a secreted enzyme, and may play a role in the detoxification of drugs and xenobiotics in neural and other tissues of the body and in the cerebrospinal fluid. Multiple transcript variants encoding different isoforms have been reported, but the full-length nature and/or biological validity of some variants have not been determined. [provided by RefSeq, Jun 2010]

GeneCards Summary for CES4A Gene

CES4A (Carboxylesterase 4A) is a Protein Coding gene. Diseases associated with CES4A include Cauda Equina Syndrome and Ischemic Neuropathy. Among its related pathways are the visual cycle I (vertebrates) and E2F transcription factor network. Gene Ontology (GO) annotations related to this gene include hydrolase activity and carboxylic ester hydrolase activity. An important paralog of this gene is CES5A.

UniProtKB/Swiss-Prot Summary for CES4A Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CES4A Gene

Genomics for CES4A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CES4A 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
GH16J066999 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 250.4 +12.1 12148 1.7 KLF9 ZBTB33 KLF1 ZNF687 MAX TARDBP ZNF121 KDM1A EZH2 HSALNG0112143 CES4A ENSG00000260465 CBFB
GH16J066988 Promoter/Enhancer 1.2 EPDnew Ensembl dbSUPER 250.7 -0.2 -188 1.2 CEBPA YY1 MXD4 KMT2B FOXA2 SMAD4 RXRA SAP130 RARA DRAP1 CES4A lnc-FAM96B-1 ELMO3 piR-33422-171 CES3
GH16J066879 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 4.9 -107.9 -107888 2.6 SP1 NCOR1 IKZF1 MYC SSRP1 ZNF580 ZNF592 KLF9 CEBPA ZNF10 PDP2 lnc-PDP2-3 CES2 B3GNT9 CTCF ENSG00000260465 CDH16 RRAD NAE1 ZDHHC1
GH16J066996 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 5.2 +8.5 8512 2.2 CEBPA ATF3 YY1 CEBPB HOMEZ THAP11 FOXA2 MAFF SMAD4 RXRA ATP6V0D1 CES4A DYNC1LI2 CA7 CMTM4 HSF4 HSALNG0112143 CBFB
GH16J066510 Promoter/Enhancer 1.4 Ensembl ENCODE dbSUPER 4.5 -476.4 -476422 3.8 NCOR1 IKZF1 SSRP1 JUND ZMYM3 KLF9 CEBPA ATF3 POLR2A NFIC lnc-CMTM4-5 piR-60234 piR-55301 BEAN1 TK2 BEAN1-AS1 CKLF CKLF-CMTM1 CMTM2 CES4A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CES4A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CES4A

Genomic Locations for CES4A Gene

Latest Assembly
chr16:66,988,589-67,010,417
(GRCh38/hg38)
Size:
21,829 bases
Orientation:
Plus strand

Previous Assembly
chr16:67,022,492-67,044,320
(GRCh37/hg19 by Entrez Gene)
Size:
21,829 bases
Orientation:
Plus strand

chr16:67,022,492-67,043,661
(GRCh37/hg19 by Ensembl)
Size:
21,170 bases
Orientation:
Plus strand

Genomic View for CES4A Gene

Genes around CES4A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CES4A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CES4A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CES4A Gene

Proteins for CES4A Gene

  • Protein details for CES4A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5XG92-EST4A_HUMAN
    Recommended name:
    Carboxylesterase 4A
    Protein Accession:
    Q5XG92
    Secondary Accessions:
    • A8KAJ6
    • B7Z349
    • B7Z3L2
    • B7Z6R3
    • Q6UX55
    • Q8N9F4

    Protein attributes for CES4A Gene

    Size:
    561 amino acids
    Molecular mass:
    63529 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAQ88868.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA.; Evidence={ECO:0000305}; Sequence=BAH12248.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 2]: Inactive.
    • [Isoform 3]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Alternative splice isoforms for CES4A Gene

neXtProt entry for CES4A Gene

Post-translational modifications for CES4A Gene

  • Glycosylation at Asn214, Asn276, and Asn388
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CES4A Gene

Domains & Families for CES4A Gene

Gene Families for CES4A Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for CES4A Gene

Suggested Antigen Peptide Sequences for CES4A Gene

GenScript: Design optimal peptide antigens:
  • Carboxylesterase 4A (EST4A_HUMAN)
  • CES8 protein (Q6P2E5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q5XG92

UniProtKB/Swiss-Prot:

EST4A_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 CES4A: view

Function for CES4A Gene

Molecular function for CES4A Gene

UniProtKB/Swiss-Prot Function:
Probable carboxylesterase.

Enzyme Numbers (IUBMB) for CES4A Gene

Phenotypes From GWAS Catalog for CES4A Gene

Gene Ontology (GO) - Molecular Function for CES4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004771 sterol esterase activity IBA 21873635
GO:0004806 triglyceride lipase activity IBA 21873635
GO:0016787 hydrolase activity IEA --
GO:0052689 carboxylic ester hydrolase activity IBA 21873635
genes like me logo Genes that share ontologies with CES4A: view
genes like me logo Genes that share phenotypes with CES4A: view

Animal Models for CES4A Gene

MGI Knock Outs for CES4A:
  • Ces4a Ces4a<tm1.1(KOMP)Vlcg>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CES4A

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CES4A Gene

Localization for CES4A Gene

Subcellular locations from UniProtKB/Swiss-Prot for CES4A 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 CES4A gene
Compartment Confidence
extracellular 3
mitochondrion 2
endoplasmic reticulum 2
cytosol 2
peroxisome 1
nucleus 1
plasma membrane 0
lysosome 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CES4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IBA 21873635
genes like me logo Genes that share ontologies with CES4A: view

Pathways & Interactions for CES4A Gene

genes like me logo Genes that share pathways with CES4A: view

Pathways by source for CES4A Gene

Interacting Proteins for CES4A Gene

Gene Ontology (GO) - Biological Process for CES4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016042 lipid catabolic process IBA 21873635
genes like me logo Genes that share ontologies with CES4A: view

No data available for SIGNOR curated interactions for CES4A Gene

Drugs & Compounds for CES4A Gene

No Compound Related Data Available

Transcripts for CES4A Gene

mRNA/cDNA for CES4A Gene

5 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CES4A

Alternative Splicing Database (ASD) splice patterns (SP) for CES4A Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13a · 13b · 13c · 13d
SP1: - - -
SP2: - - - - - -
SP3: - - -
SP4: - -
SP5:
SP6:

Relevant External Links for CES4A Gene

GeneLoc Exon Structure for
CES4A

Expression for CES4A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CES4A Gene

mRNA differential expression in normal tissues according to GTEx for CES4A Gene

This gene is overexpressed in Pituitary (x4.7).

Protein differential expression in normal tissues from HIPED for CES4A Gene

This gene is overexpressed in Heart (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CES4A Gene



Protein tissue co-expression partners for CES4A Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CES4A

SOURCE GeneReport for Unigene cluster for CES4A Gene:

Hs.346947

Evidence on tissue expression from TISSUES for CES4A Gene

  • Nervous system(4.4)
  • Blood(4.3)
  • Skin(2.2)
  • Liver(2)
genes like me logo Genes that share expression patterns with CES4A: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CES4A Gene

Orthologs for CES4A Gene

This gene was present in the common ancestor of chordates.

Orthologs for CES4A Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CES4A 29 30
  • 99.35 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CES4A 29 30
  • 83.41 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ces4a 29
  • 77.24 (n)
Mouse
(Mus musculus)
Mammalia Ces4a 29 16 30
  • 76.46 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CES4A 30
  • 61 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CES4A 30
  • 48 (a)
OneToOne
Chicken
(Gallus gallus)
Aves -- 30
  • 35 (a)
ManyToMany
-- 30
  • 35 (a)
ManyToMany
Zebrafish
(Danio rerio)
Actinopterygii ces3 30
  • 29 (a)
ManyToMany
ces2 30
  • 28 (a)
ManyToMany
si:ch211-93f2.1 30
  • 10 (a)
ManyToMany
Species where no ortholog for CES4A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • Dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • 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 Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for CES4A Gene

ENSEMBL:
Gene Tree for CES4A (if available)
TreeFam:
Gene Tree for CES4A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CES4A: view image
Alliance of Genome Resources:
Additional Orthologs for CES4A

Paralogs for CES4A Gene

Paralogs for CES4A Gene

(33) SIMAP similar genes for CES4A Gene using alignment to 5 proteins:

  • EST4A_HUMAN
  • F5GZV6_HUMAN
  • F5H5S4_HUMAN
  • F8WEE9_HUMAN
  • I3L191_HUMAN
genes like me logo Genes that share paralogs with CES4A: view

Variants for CES4A Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CES4A Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CES4A Gene

Variant ID Type Subtype PubMed ID
dgv526e214 CNV gain 21293372
nsv1840 CNV insertion 18451855
nsv509626 CNV insertion 20534489
nsv827706 CNV loss 20364138

Variation tolerance for CES4A Gene

Residual Variation Intolerance Score: 74.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.69; 66.02% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CES4A Gene

Human Gene Mutation Database (HGMD)
CES4A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CES4A
Leiden Open Variation Database (LOVD)
CES4A

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CES4A Gene

Disorders for CES4A Gene

MalaCards: The human disease database

(3) MalaCards diseases for CES4A Gene - From: COP

Disorder Aliases PubMed IDs
cauda equina syndrome
  • cauda equina
ischemic neuropathy
  • ischemic peripheral neuropathy
schwartz-jampel syndrome, type 1
  • sjs1
- elite association - COSMIC cancer census association via MalaCards
Search CES4A in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CES4A

genes like me logo Genes that share disorders with CES4A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CES4A Gene

Publications for CES4A Gene

  1. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 2 3 4
  2. Recommended nomenclature for five mammalian carboxylesterase gene families: human, mouse, and rat genes and proteins. (PMID: 20931200) Holmes RS … Maltais LJ (Mammalian genome : official journal of the International Mammalian Genome Society 2010) 2 3
  3. Genomic structure and transcriptional regulation of the rat, mouse, and human carboxylesterase genes. (PMID: 17364878) Hosokawa M … Chiba K (Drug metabolism reviews 2007) 2 3
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. A Global Analysis of the Receptor Tyrosine Kinase-Protein Phosphatase Interactome. (PMID: 28065597) Yao Z … Stagljar I (Molecular cell 2017) 3

Products for CES4A Gene

Sources for CES4A Gene