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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CERS2
ceramide synthase 2
Chromosome 1 · 1q21.3
NCBI Gene: 29956Ensembl: ENSG00000143418.21HGNC: HGNC:14076UniProt: Q96G23
127PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
glycosphingolipid biosynthetic processendoplasmic reticulumcytoplasmic side of endoplasmic reticulum membraneceramide biosynthetic processprostate carcinomaskin neoplasmmetabolic syndromecancer
✦AI Summary

CERS2 (ceramide synthase 2) catalyzes the synthesis of ceramides with very-long-chain fatty acids (C22-C27) by transferring acyl-CoA groups to sphingoid bases, forming both dihydroceramides and ceramides in de novo and salvage pathways 12. The enzyme plays a non-redundant role in kidney, liver, and brain tissues, regulating myelin-specific sphingolipids including galactosylceramide and sulfatide that are essential for myelin architecture and motor neuron function 3. Mechanistically, CERS2 activity directly influences systemic inflammatory and metabolic responses. IL-10 signaling suppresses saturated very-long-chain ceramide accumulation through altered fatty acid desaturation, preventing pathologic REL-dependent inflammation 4. PAQR4 regulates CERS2 protein stability; elevated CERS2 activity causes ceramide accumulation that impairs adipogenesis and glucose homeostasis 5. In pancreatic β-cells, CERS2-derived very-long-chain sphingolipids control proinsulin processing and insulin secretion through interactions with endoplasmic reticulum-Golgi transport proteins like Tmed2 6. Clinically, CERS2 dysfunction associates with multiple metabolic diseases: reduced CERS2 activity impairs glucose homeostasis and β-cell function in gestational diabetes-to-type 2 diabetes progression 7; decreased ovarian CERS2 expression correlates with nervonic acid accumulation and impaired reproductive function in metabolic syndrome 8; CERS2 inhibition protects hematopoietic stem cells against endoplasmic reticulum stress and radiation injury 9; and CERS2 drives toxic very-long-chain dihydroceramide formation in hereditary sensory neuropathy and diabetic neuropathy 10.

Sources cited
1
The enzyme plays a non-redundant role in kidney, liver, and brain tissues, regulating myelin-specific sphingolipids including galactosylceramide and sulfatide that are essential for myelin architecture and motor neuron function .
PMID: 20222015
2
IL-10 signaling suppresses saturated very-long-chain ceramide accumulation through altered fatty acid desaturation, preventing pathologic REL-dependent inflammation .
PMID: 38383790
3
PAQR4 regulates CERS2 protein stability; elevated CERS2 activity causes ceramide accumulation that impairs adipogenesis and glucose homeostasis .
PMID: 38961186
4
In pancreatic β-cells, CERS2-derived very-long-chain sphingolipids control proinsulin processing and insulin secretion through interactions with endoplasmic reticulum-Golgi transport proteins like Tmed2 .
PMID: 36543979
5
Clinically, CERS2 dysfunction associates with multiple metabolic diseases: reduced CERS2 activity impairs glucose homeostasis and β-cell function in gestational diabetes-to-type 2 diabetes progression ; decreased ovarian CERS2 expression correlates with nervonic acid accumulation and impaired reproductive function in metabolic syndrome ; CERS2 inhibition protects hematopoietic stem cells against endoplasmic reticulum stress and radiation injury ; and CERS2 drives toxic very-long-chain dihydroceramide formation in hereditary sensory neuropathy and diabetic neuropathy .
PMID: 39792658
6
Clinically, CERS2 dysfunction associates with multiple metabolic diseases: reduced CERS2 activity impairs glucose homeostasis and β-cell function in gestational diabetes-to-type 2 diabetes progression ; decreased ovarian CERS2 expression correlates with nervonic acid accumulation and impaired reproductive function in metabolic syndrome ; CERS2 inhibition protects hematopoietic stem cells against endoplasmic reticulum stress and radiation injury ; and CERS2 drives toxic very-long-chain dihydroceramide formation in hereditary sensory neuropathy and diabetic neuropathy .
PMID: 39181200
7
Clinically, CERS2 dysfunction associates with multiple metabolic diseases: reduced CERS2 activity impairs glucose homeostasis and β-cell function in gestational diabetes-to-type 2 diabetes progression ; decreased ovarian CERS2 expression correlates with nervonic acid accumulation and impaired reproductive function in metabolic syndrome ; CERS2 inhibition protects hematopoietic stem cells against endoplasmic reticulum stress and radiation injury ; and CERS2 drives toxic very-long-chain dihydroceramide formation in hereditary sensory neuropathy and diabetic neuropathy .
PMID: 40624017
8
Clinically, CERS2 dysfunction associates with multiple metabolic diseases: reduced CERS2 activity impairs glucose homeostasis and β-cell function in gestational diabetes-to-type 2 diabetes progression ; decreased ovarian CERS2 expression correlates with nervonic acid accumulation and impaired reproductive function in metabolic syndrome ; CERS2 inhibition protects hematopoietic stem cells against endoplasmic reticulum stress and radiation injury ; and CERS2 drives toxic very-long-chain dihydroceramide formation in hereditary sensory neuropathy and diabetic neuropathy .
PMID: 41298489
Disease Associationsⓘ20
prostate carcinomaOpen Targets
0.38Weak
skin neoplasmOpen Targets
0.35Weak
metabolic syndromeOpen Targets
0.33Weak
cancerOpen Targets
0.29Weak
chronic kidney diseaseOpen Targets
0.27Weak
Abnormality of the skeletal systemOpen Targets
0.23Weak
glaucomaOpen Targets
0.23Weak
actinic keratosisOpen Targets
0.20Weak
cutaneous melanomaOpen Targets
0.14Weak
skin cancerOpen Targets
0.14Weak
cutaneous squamous cell carcinomaOpen Targets
0.13Weak
cholelithiasisOpen Targets
0.13Weak
marfanoid habitus and intellectual disabilityOpen Targets
0.12Weak
mathematical abilityOpen Targets
0.11Weak
neoplasmOpen Targets
0.11Weak
urinary bladder carcinomaOpen Targets
0.10Weak
hepatocellular carcinomaOpen Targets
0.09Suggestive
skin diseaseOpen Targets
0.09Suggestive
liver cancerOpen Targets
0.08Suggestive
gliomaOpen Targets
0.08Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ASAH2Protein interaction98%ACER2Protein interaction97%ACER1Protein interaction97%ASAH1Protein interaction97%GALCProtein interaction97%GBA1Protein interaction97%
Tissue Expression6 tissues
Liver
100%
Brain
39%
Lung
33%
Ovary
23%
Bone Marrow
17%
Heart
13%
Gene Interaction Network
Click a node to explore
CERS2ASAH2ACER2ACER1ASAH1GALCGBA1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q96G23
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.50Moderately Constrained
pLIⓘ
0.98Intolerant
Observed/Expected LoF0.34 [0.24–0.50]
RankingsWhere CERS2 stands among ~20K protein-coding genes
  • #3,683of 20,598
    Most Researched127 · top quartile
  • #3,005of 17,882
    Most Constrained (LOEUF)0.50 · top quartile
Genes detectedCERS2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
IL-10 constrains sphingolipid metabolism to limit inflammation.
PMID: 38383790
Nature · 2024
1.00
2
PAQR4 regulates adipocyte function and systemic metabolic health by mediating ceramide levels.
PMID: 38961186
Nat Metab · 2024
0.90
3
Reduced circulating sphingolipids and
PMID: 39792658
Sci Adv · 2025
0.80
4
Nervonic acid triggered ovarian inflammation by inducing mitochondrial oxidative stress to activate NLRP3/ IL-1β pathway.
PMID: 39181200
J Adv Res · 2025
0.70
5
EMP1 safeguards hematopoietic stem cells by suppressing sphingolipid metabolism and alleviating endoplasmic reticulum stress.
PMID: 40624017
Nat Commun · 2025
0.60