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Aliases for CEL Gene

Aliases for CEL Gene

  • Carboxyl Ester Lipase 2 3 4 5
  • Bile Salt-Stimulated Lipase 2 4
  • Cholesterol Esterase 3 4
  • Sterol Esterase 3 4
  • Bucelipase 3 4
  • BSSL 3 4
  • BAL 3 4
  • Carboxyl Ester Lipase (Bile Salt-Stimulated Lipase) 3
  • Bile Salt-Dependent Lipase, Oncofetal Isoform 3
  • Fetoacinar Pancreatic Protein 3
  • Lysophospholipase, Pancreatic 3
  • Pancreatic Lysophospholipase 4
  • Bile Salt-Activated Lipase 3
  • Carboxyl Ester Hydrolase 3
  • EC 3.1.1.13 4
  • EC 3.1.1.3 4
  • EC 3.1.1 56
  • CEase 3
  • MODY8 3
  • BSDL 3
  • CELL 3
  • FAPP 3
  • LIPA 3
  • FAP 3

External Ids for CEL Gene

Previous GeneCards Identifiers for CEL Gene

  • GC09P056378
  • GC09P127494
  • GC09P129291
  • GC09P131213
  • GC09P132966
  • GC09P134927
  • GC09P135937

Summaries for CEL Gene

Entrez Gene Summary for CEL Gene

  • The protein encoded by this gene is a glycoprotein secreted from the pancreas into the digestive tract and from the lactating mammary gland into human milk. The physiological role of this protein is in cholesterol and lipid-soluble vitamin ester hydrolysis and absorption. This encoded protein promotes large chylomicron production in the intestine. Also its presence in plasma suggests its interactions with cholesterol and oxidized lipoproteins to modulate the progression of atherosclerosis. In pancreatic tumoral cells, this encoded protein is thought to be sequestrated within the Golgi compartment and is probably not secreted. This gene contains a variable number of tandem repeat (VNTR) polymorphism in the coding region that may influence the function of the encoded protein. [provided by RefSeq, Jul 2008]

GeneCards Summary for CEL Gene

CEL (Carboxyl Ester Lipase) is a Protein Coding gene. Diseases associated with CEL include Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction and Maturity-Onset Diabetes Of The Young. Among its related pathways are Fat digestion and absorption and Pancreatic secretion. Gene Ontology (GO) annotations related to this gene include hydrolase activity and carboxylic ester hydrolase activity. An important paralog of this gene is NLGN3.

UniProtKB/Swiss-Prot for CEL Gene

  • Catalyzes fat and vitamin absorption. Acts in concert with pancreatic lipase and colipase for the complete digestion of dietary triglycerides.

Tocris Summary for CEL Gene

  • Lipases are esterase enzymes that catalyze the hydrolysis of ester bonds within hydrophobic lipids. The diverse class of lipase enzymes includes diacylglycerol lipase (DAGL) and lipoprotein lipase (LPL) and endothelial lipase (LIPG).

Gene Wiki entry for CEL Gene

Additional gene information for CEL Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CEL Gene

Genomics for CEL Gene

GeneHancer (GH) Regulatory Elements for CEL Gene

Promoters and enhancers for CEL 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
GH09I133059 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 558.8 -1.2 -1179 3 HDAC1 PKNOX1 THRB TCF12 POLR2B ZNF766 SCRT2 ATF7 BCLAF1 RUNX3 CEL LOC100996574 RALGDS MIR6877
GH09I133062 Enhancer 0.2 dbSUPER 550.8 +1.3 1260 1.3 CEL LOC100996574 CELP
GH09I133029 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 7.3 -31.3 -31271 2.5 CLOCK FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 ZNF548 SP3 GTF3C5 LOC105376306 SETX TTF1 MED22 DDX31 TSC1 GTF3C4 BRD3OS SPACA9
GH09I133054 Enhancer 1 ENCODE dbSUPER 8.5 -5.3 -5280 5.1 HDAC1 PKNOX1 POLR2B ZNF766 RCOR1 ATF7 BCLAF1 RUNX3 EGR2 ZNF263 CEL GTF3C5 MIR6877 LOC100996574
GH09I133008 Enhancer 0.6 ENCODE 10.9 -52.9 -52949 0.1 SMARCE1 HDAC1 MEIS2 PKNOX1 TEAD4 CEBPB CBFA2T3 TCF12 IKZF1 KDM1A RNU7-21P RPL39P24 GTF3C5 CEL GC09P133067 GC09P133101 GC09P133102 GC09P133086 GC09P132965
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CEL on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CEL gene promoter:

Genomic Locations for CEL Gene

Genomic Locations for CEL Gene
chr9:133,061,978-133,071,863
(GRCh38/hg38)
Size:
9,886 bases
Orientation:
Plus strand
chr9:135,937,365-135,947,248
(GRCh37/hg19)

Genomic View for CEL Gene

Genes around CEL on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for CEL Gene

Proteins for CEL Gene

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

    Protein Symbol:
    P19835-CEL_HUMAN
    Recommended name:
    Bile salt-activated lipase
    Protein Accession:
    P19835
    Secondary Accessions:
    • Q16398
    • Q5T7U7
    • Q9UCH1
    • Q9UP41

    Protein attributes for CEL Gene

    Size:
    753 amino acids
    Molecular mass:
    79322 Da
    Quaternary structure:
    • Interacts with CLC.
    SequenceCaution:
    • Sequence=AAA51973.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAA52014.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAC26514.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAA38325.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAI13412.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=EAW88033.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CEL Gene

    Alternative splice isoforms for CEL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CEL Gene

Selected DME Specific Peptides for CEL Gene

P19835:
  • FKGIPFA
  • NIAAFGG

Post-translational modifications for CEL Gene

  • Glycosylation at Asn207, Thr558, posLast=569569, posLast=579579, posLast=607607, Thr618, posLast=629629, posLast=640640, Thr651, Thr662, and posLast=673673
  • Modification sites at PhosphoSitePlus

Other Protein References for CEL Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for CEL Gene

Gene Families for CEL Gene

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

Suggested Antigen Peptide Sequences for CEL Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P19835

UniProtKB/Swiss-Prot:

CEL_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 CEL: view

Function for CEL Gene

Molecular function for CEL Gene

GENATLAS Biochemistry:
carboxyl ester lipase,expressed in pancreas and in mammary gland during lactation, ?same as liver cholesterol esterase
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=24 uM for lipoyl-4-aminobenzoate {ECO:0000269 PubMed:8471055}; KM=15 uM for triacetin {ECO:0000269 PubMed:8471055}; Vmax=45.5 pmol/min/mg enzyme toward lipoyl-4-aminobenzoate {ECO:0000269 PubMed:8471055}; Vmax=323 pmol/min/mg enzyme toward triacetin {ECO:0000269 PubMed:8471055};
UniProtKB/Swiss-Prot CatalyticActivity:
Triacylglycerol + H(2)O = diacylglycerol + a carboxylate.
UniProtKB/Swiss-Prot CatalyticActivity:
A steryl ester + H(2)O = a sterol + a fatty acid.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by bile salts containing a 7-hydroxyl group.
UniProtKB/Swiss-Prot Function:
Catalyzes fat and vitamin absorption. Acts in concert with pancreatic lipase and colipase for the complete digestion of dietary triglycerides.

Enzyme Numbers (IUBMB) for CEL Gene

Phenotypes From GWAS Catalog for CEL Gene

Gene Ontology (GO) - Molecular Function for CEL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity TAS 2265692
GO:0004771 sterol esterase activity TAS --
GO:0004806 triglyceride lipase activity NAS 2265692
GO:0005515 protein binding IPI 11834744
GO:0008201 heparin binding NAS 7578248
genes like me logo Genes that share ontologies with CEL: view
genes like me logo Genes that share phenotypes with CEL: view

Human Phenotype Ontology for CEL Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CEL Gene

MGI Knock Outs for CEL:

Animal Model Products

CRISPR Products

miRNA for CEL Gene

miRTarBase miRNAs that target CEL

Inhibitory RNA Products

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for CEL Gene

Localization for CEL Gene

Subcellular locations from UniProtKB/Swiss-Prot for CEL 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 CEL gene
Compartment Confidence
extracellular 5
plasma membrane 2
endoplasmic reticulum 2
peroxisome 1
cytosol 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for CEL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space HDA 16502470
GO:0005737 cytoplasm ISS --
GO:0070062 extracellular exosome HDA 23376485
genes like me logo Genes that share ontologies with CEL: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CEL Gene

Pathways & Interactions for CEL Gene

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

Gene Ontology (GO) - Biological Process for CEL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process NAS 8639615
GO:0006707 cholesterol catabolic process NAS 7578248
GO:0009062 fatty acid catabolic process NAS 7578248
GO:0018350 protein esterification NAS 7578248
GO:0030157 pancreatic juice secretion IDA 1854805
genes like me logo Genes that share ontologies with CEL: view

No data available for SIGNOR curated interactions for CEL Gene

Drugs & Compounds for CEL Gene

(42) Drugs for CEL Gene - From: DrugBank, ClinicalTrials, DGIdb, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
cholesterol Approved, Experimental, Investigational Pharma Agonist 0
Orlistat Approved, Investigational Pharma Lipase inhibitor for obesity treatment, Pancreatic, gastric and carboxylester lipase inhibitor; antiobesity and antihypercholesterolemic activity 54
Palmitic Acid Approved, Experimental Pharma Full agonist, Agonist 23
Stearic acid Approved, Experimental Pharma 0
Water Approved Pharma 0

(90) Additional Compounds for CEL Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
aminoacetone
  • 1-Amino-(8CI,9CI)-2-propanone
  • 1-Amino-2-propanone
  • 1-Aminopropan-2-one
  • alpha-Aminoacetone
  • Amino-(6CI)-2-propanone
298-08-8
Arachidic acid
  • Arachate
  • Arachic acid
  • Arachidate
  • Arachidic acid
  • Eicosanoate
506-30-9
CE(10:0)
  • 3b-(Decanoyloxy)-5-cholestene
  • 5-Cholesten-3b-ol caprate
  • Cholest-5-en-3b-ol caprate
  • Cholesterol 3-decanoate
  • Cholesterol 3-decanoic acid
1183-04-6
CE(12:0)
  • (3beta)-Cholest-5-en-3-ol dodecanoate
  • (3beta)-Cholest-5-en-3-ol dodecanoic acid
  • 12:0 Cholesterol ester
  • Cholest-5-en-3-beta-yl laurate
  • Cholest-5-en-3-yl laurate
1908-11-8
CE(14:0)
  • 1-Myristoyl-cholesterol
  • 14:0 Cholesterol ester
  • CE(14:0)
  • CE(14:0/0:0)
  • Cholest-5-en-3-ol (3beta)-tetradecanoate
1989-52-2

(3) Tocris Compounds for CEL Gene

Compound Action Cas Number
GSK 264220A Endothelial lipase and lipoprotein lipase inhibitor 685506-42-7
Orlistat Pancreatic, gastric and carboxylester lipase inhibitor; antiobesity and antihypercholesterolemic activity 96829-58-2
XEN 445 Selective endothelial lipase inhibitor; orally bioavailable 1515856-92-4
genes like me logo Genes that share compounds with CEL: view

Transcripts for CEL Gene

mRNA/cDNA for CEL Gene

(1) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(32) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CEL Gene

Carboxyl ester lipase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

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

No ASD Table

Relevant External Links for CEL Gene

GeneLoc Exon Structure for
CEL
ECgene alternative splicing isoforms for
CEL

Expression for CEL Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Pancreas (x52.4).

Protein differential expression in normal tissues from HIPED for CEL Gene

This gene is overexpressed in Milk (31.3), Pancreatic juice (29.0), and Pancreas (7.7).

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



Protein tissue co-expression partners for CEL Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CEL Gene:

CEL

SOURCE GeneReport for Unigene cluster for CEL Gene:

Hs.533258

mRNA Expression by UniProt/SwissProt for CEL Gene:

P19835-CEL_HUMAN
Tissue specificity: Mammary gland and pancreas. Expressed by eosinophils.

Evidence on tissue expression from TISSUES for CEL Gene

  • Pancreas(4.9)
  • Intestine(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CEL Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • nervous
  • reproductive
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • head
Thorax:
  • heart
Abdomen:
  • kidney
  • pancreas
Pelvis:
  • penis
  • placenta
  • uterus
General:
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with CEL: view

Primer Products

Orthologs for CEL Gene

This gene was present in the common ancestor of animals.

Orthologs for CEL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CEL 33 34
  • 94.92 (n)
dog
(Canis familiaris)
Mammalia CEL 33 34
  • 83.62 (n)
cow
(Bos Taurus)
Mammalia CEL 33 34
  • 82.55 (n)
oppossum
(Monodelphis domestica)
Mammalia CEL 34
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cel 33 16 34
  • 79.83 (n)
rat
(Rattus norvegicus)
Mammalia Cel 33
  • 78.64 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CEL 34
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves CEL 33 34
  • 67.57 (n)
lizard
(Anolis carolinensis)
Reptilia CEL 34
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100492444 33
  • 65.76 (n)
African clawed frog
(Xenopus laevis)
Amphibia cel-prov 33
zebrafish
(Danio rerio)
Actinopterygii cel.2 33 34
  • 61.93 (n)
cel.1 34
  • 57 (a)
OneToMany
wufb62e11 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1369 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001722 33
  • 49.59 (n)
fruit fly
(Drosophila melanogaster)
Insecta Est-P 35
  • 32 (a)
alpha-Est10 35
  • 31 (a)
Est-6 35
  • 31 (a)
CG6018 35
  • 30 (a)
Jhe 35
  • 30 (a)
alpha-Est2 35
  • 29 (a)
alpha-Est5 35
  • 29 (a)
alpha-Est7 35
  • 29 (a)
alpha-Est8 35
  • 29 (a)
CG10175 35
  • 29 (a)
clt 35
  • 29 (a)
alpha-Est1 35
  • 28 (a)
alpha-Est4 35
  • 28 (a)
alpha-Est6 35
  • 28 (a)
alpha-Est9 35
  • 28 (a)
CG7529 35
  • 28 (a)
CG8424 35
  • 28 (a)
CG9289 35
  • 28 (a)
CG10339 35
  • 27 (a)
Glt 35
  • 25 (a)
Nlg1 34
  • 13 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea R173.3 35
  • 40 (a)
B0238.13 35
  • 34 (a)
F15A8.6 35
  • 30 (a)
B0238.7 35
  • 29 (a)
Y71H2AM.13 35
  • 29 (a)
B0238.1 35
  • 28 (a)
C52A10.2 35
  • 28 (a)
ges-1 35
  • 28 (a)
F55D10.3 35
  • 27 (a)
K11G9.3 35
  • 27 (a)
T28C12.4a 35
  • 27 (a)
T28C12.4b 35
  • 27 (a)
T02B5.1 35
  • 26 (a)
K11G9.1 35
  • 25 (a)
T02B5.3 35
  • 25 (a)
nlg-1 34
  • 20 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 35 (a)
OneToMany
-- 34
  • 34 (a)
OneToMany
-- 34
  • 29 (a)
OneToMany
-- 34
  • 29 (a)
OneToMany
-- 34
  • 27 (a)
OneToMany
Species where no ortholog for CEL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • wheat (Triticum aestivum)

Evolution for CEL Gene

ENSEMBL:
Gene Tree for CEL (if available)
TreeFam:
Gene Tree for CEL (if available)

Paralogs for CEL Gene

Paralogs for CEL Gene

(11) SIMAP similar genes for CEL Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for CEL Gene

genes like me logo Genes that share paralogs with CEL: view

Variants for CEL Gene

Sequence variations from dbSNP and Humsavar for CEL Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs113056079 benign, not specified, Monogenic diabetes 133,065,052(+) T/G coding_sequence_variant, missense_variant
rs193922638 likely-pathogenic, Maturity-onset diabetes of the young, type 8 133,071,271(+) CCCCCCCC/CCCCCCC coding_sequence_variant, frameshift
rs201012268 uncertain-significance, Monogenic diabetes 133,071,121(+) G/A/T coding_sequence_variant, missense_variant
rs773990119 uncertain-significance, Monogenic diabetes 133,067,170(+) C/T coding_sequence_variant, missense_variant
rs77696629 likely-benign, Monogenic diabetes 133,070,628(+) T/C coding_sequence_variant, missense_variant

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

Variant ID Type Subtype PubMed ID
dgv1242n67 CNV gain 20364138
dgv12925n54 CNV gain 21841781
dgv12926n54 CNV loss 21841781
esv26702 CNV gain 19812545
esv2739138 CNV deletion 23290073
esv2739148 CNV deletion 23290073
esv2761264 CNV loss 21179565
esv2764128 CNV gain+loss 21179565
esv33978 CNV gain+loss 17666407
esv3573407 CNV loss 25503493
esv3573409 CNV loss 25503493
esv3576709 CNV gain 25503493
esv3621931 CNV loss 21293372
esv3621932 CNV gain 21293372
esv3621933 CNV loss 21293372
esv3891731 CNV loss 25118596
nsv1161913 CNV duplication 26073780
nsv1161914 CNV deletion 26073780
nsv442165 CNV gain 18776908
nsv466606 CNV loss 19166990
nsv508564 CNV deletion 20534489
nsv615596 CNV loss 21841781
nsv615599 CNV loss 21841781
nsv615601 CNV gain+loss 21841781
nsv6746 CNV insertion 18451855
nsv819112 CNV gain 19587683
nsv825135 CNV gain 20364138
nsv825138 CNV loss 20364138
nsv825141 CNV gain 20364138
nsv831744 CNV gain+loss 17160897
nsv951795 CNV deletion 24416366

Variation tolerance for CEL Gene

Residual Variation Intolerance Score: 76.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.57; 56.05% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CEL Gene

Human Gene Mutation Database (HGMD)
CEL
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CEL

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CEL Gene

Disorders for CEL Gene

MalaCards: The human disease database

(5) MalaCards diseases for CEL Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search CEL in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CEL_HUMAN
  • Maturity-onset diabetes of the young 8 with exocrine dysfunction (MODY8) [MIM:609812]: A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease. {ECO:0000269 PubMed:16369531}. Note=The disease is caused by mutations affecting the gene represented in this entry. The disease can be caused by frameshift deletions in the variable number of tandem repeats (VNTR)-containing exon 11 of the CEL gene (PubMed:16369531). {ECO:0000269 PubMed:16369531}.

Additional Disease Information for CEL

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CEL: view

No data available for Genatlas for CEL Gene

Publications for CEL Gene

  1. Carboxylester lipase gene polymorphism as a risk of alcohol-induced pancreatitis. (PMID: 15841033) Miyasaka K … Funakoshi A (Pancreas 2005) 3 22 44 58
  2. Association between a polymorphism in the carboxyl ester lipase gene and serum cholesterol profile. (PMID: 15114370) Bengtsson-Ellmark SH … Bjursell G (European journal of human genetics : EJHG 2004) 3 22 44 58
  3. Crystal structure of the catalytic domain of human bile salt activated lipase. (PMID: 11045623) Terzyan S … Zhang XC (Protein science : a publication of the Protein Society 2000) 3 4 22 58
  4. Structural characterization of the N-linked oligosaccharides in bile salt-stimulated lipase originated from human breast milk. (PMID: 10024660) Mechref Y … Novotny MV (Glycobiology 1999) 3 4 22 58
  5. Genomic organization, sequence analysis, and chromosomal localization of the human carboxyl ester lipase (CEL) gene and a CEL-like (CELL) gene. (PMID: 1639390) Lidberg U … Bjursell G (Genomics 1992) 3 4 22 58

Products for CEL Gene

Sources for CEL Gene

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