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Gene

CEL

carboxyl ester lipase

Summary

Cytogenetic location
9q34.13
Coordinates
Chromosome 9: 133,061,981–133,071,861 (GRCh38)
Exons
11 exons across 9.9 kb
Protein
753 amino acids
Inheritance
Autosomal dominant
Also known as
BSSL, MODY8
MANE Select transcript
ENST00000372080.8NM_001807.6
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Diabetes Mellitus

    • A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization.

      • ClinGen rates the link moderate
      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      Teplizumab (Tzield) for stage 2 presymptomatic T1D (FDA approved 2022); insulin replacement at clinical T1D onset; TrialNet autoantibody screening for high-risk relatives; closed-loop insulin delivery systems

  • Maturity-Onset Diabetes Of The Young

    • Autosomal dominant

      MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes.

      • ClinGen rates the link moderate
      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      GCK-MODY: no treatment needed; HNF1A/HNF4A-MODY: low-dose sulfonylureas; HNF1B-MODY: insulin + renal monitoring; T2D polygenic: lifestyle modification, metformin, GLP-1 agonists, SGLT2 inhibitors based on comorbidity profile

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How CEL is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 9, with a bracket where CEL sits. CEL and 27 genes near it on chromosome 9, from 132,566,921 to 133,566,920.Chromosome 99q34.13p24.3p24.2p24.1p23p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q13q21.11q21.12q21.13q21.2q21.31q21.32q21.33q22.1q22.2q22.31q22.32q22.33q31.1q31.2q31.3q32q33.1q33.2q33.3q34.11q34.12q34.13q34.2q34.3132.6 Mb132.8 Mb133 Mb133.2 Mb133.4 MbCFAP77: 132,410,043–132,573,319, forward strandCFAP77DDX31: 132,536,999–132,670,401, reverse strandDDX31BARHL1: 132,582,071–132,591,651, forward strandBARHL1GTF3C4: 132,670,023–132,694,953, forward strandGTF3C4AK8: 132,725,573–132,878,777, reverse strandAK8SPACA9: 132,878,027–132,890,316, forward strandSPACA9TSC1: 132,891,348–132,946,874, reverse strandTSC1GFI1B: 132,944,000–132,991,687, forward strandGFI1BGTF3C5: 133,030,675–133,058,503, forward strandGTF3C5CEL: 133,061,981–133,071,861, forward strandCELRALGDS: 133,097,657–133,149,440, reverse strandRALGDS: 133,098,121–133,163,914, reverse strandGBGT1: 133,151,020–133,164,245, reverse strandGBGT1OBP2B: 133,205,277–133,209,309, reverse strandOBP2BABO: 133,233,278–133,276,024, reverse strandABOSURF6: 133,328,684–133,336,289, reverse strandSURF6MED22: 133,338,312–133,348,140, reverse strandMED22RPL7A: 133,347,950–133,351,435, forward strandRPL7ASURF1: 133,351,069–133,356,676, reverse strandSURF1SURF2: 133,356,520–133,362,917, forward strandSURF4: 133,361,450–133,376,233, reverse strandSTKLD1: 133,376,332–133,406,096, forward strandREXO4: 133,406,026–133,418,096, reverse strandREXO4ADAMTS13: 133,414,358–133,459,402, forward strandADAMTS13CACFD1: 133,459,965–133,470,848, forward strandCACFD1SLC2A6: 133,462,053–133,479,148, reverse strandSLC2A6MYMK: 133,514,586–133,528,612, reverse strandMYMKADAMTSL2: 133,532,164–133,575,522, forward strandADAMTSL2Diagram of CEL: 11 exons on the forward strand of chromosome 9Exon 3: 1 known disease-causing siteExon 6: 1 known disease-causing siteExon 9: 1 known disease-causing siteExon 11: 3 known disease-causing sitesExon 1: 133,061,981–133,062,068, 88 basesExon 2: 133,064,404–133,064,554, 151 basesExon 3: 133,064,640–133,064,762, 123 basesExon 4: 133,065,040–133,065,237, 198 basesExon 5: 133,066,530–133,066,660, 131 basesExon 6: 133,066,838–133,066,945, 108 basesExon 7: 133,067,088–133,067,205, 118 basesExon 8: 133,068,672–133,068,858, 187 basesExon 9: 133,069,056–133,069,259, 204 basesExon 10: 133,070,461–133,070,658, 198 basesExon 11: 133,070,987–133,071,861, 875 bases12345678910115′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 2.4 kb of the gene's 9.9 kb; 2,262 of those bases code for the protein.

How a genome test reads CEL

6

positions in CEL where ClinVar classes a change as pathogenic or likely pathogenic

6 of them (100%) fall in regions short reads find hard.

  • Low mappability (3 sites)Regions where 100 bp or 250 bp reads cannot be placed uniquely.
  • Segmental duplications (6 sites)Copies of at least 1 kb sharing at least 90% identity with another part of the genome (paralogues, pseudogenes); reads may align to the wrong copy.

A whole genome covers all 9.9 kb of CEL, introns included, not only the 2.4 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). CEL gene: carboxyl ester lipase. Retrieved 16 October 2026, from https://dantelabs.com/genes/cel

Vancouver

Dante Labs. CEL gene: carboxyl ester lipase [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/cel

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