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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ACER2
alkaline ceramidase 2
Chromosome 9 · 9p22.1
NCBI Gene: 340485Ensembl: ENSG00000177076.6HGNC: HGNC:23675UniProt: B3KVV5
20PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
N-acylsphingosine amidohydrolase activitynegative regulation of cell-matrix adhesionsphingosine biosynthetic processceramide catabolic processpsoriasisHypercholesterolemiaknee fracturetrauma complication
✦AI Summary

ACER2 (alkaline ceramidase 2) is a Golgi-localized membrane enzyme that catalyzes ceramide hydrolysis into sphingosine and free fatty acids at alkaline pH, with preference for unsaturated long-chain ceramides 1. The enzyme requires Ca2+ for activity and possesses seven transmembrane domains with its N-terminal tail essential for proper Golgi localization and function 1. ACER2 regulates sphingolipid homeostasis by controlling sphingosine-1-phosphate (S1P) and dihydrosphingosine-1-phosphate production, bioactive lipids governing cell proliferation, apoptosis, and autophagy 2. The enzyme participates in p53-dependent DNA damage responses and modulates protein glycosylation through sphingosine production 1. Clinically, ACER2 dysregulation contributes to multiple diseases. In diabetic retinopathy, elevated ACER2 expression provides negative feedback to reduce ceramide accumulation and endothelial dysfunction 3. Conversely, in diffuse large B-cell lymphoma, YTHDF2-mediated stabilization of ACER2 mRNA promotes ceramide catabolism, activating pro-survival AKT/PI3K pathways 4. In prostate cancer bone metastasis, miR-140-3p suppression of ACER2 inhibits autophagy via AKT/mTOR activation, promoting progression 5. UMP administration alleviates obesity by restoring HIF2α-ACER2-mediated ceramide catabolism 6. ACER2 represents a critical metabolic node in gastrointestinal cancers through S1P pathway regulation 2.

Sources cited
1
ACER2 substrate specificity, Ca2+ requirement, membrane topology with seven transmembrane domains, N-terminal localization requirements, and role in protein glycosylation
PMID: 20089856
2
ACER2 upregulation provides protective feedback in diabetic retinopathy by reducing ceramide-induced endothelial dysfunction
PMID: 37976214
3
YTHDF2 stabilizes ACER2 mRNA in DLBCL, promoting ceramide catabolism and activating pro-tumorigenic AKT/PI3K pathways
PMID: 37865189
4
ACER2 catalyzes ceramide-to-sphingosine conversion and regulates S1P production in gastrointestinal cancer development
PMID: 39650647
5
UMP restores HIF2α-ACER2-ceramide signaling axis to alleviate obesity through enhanced ceramide catabolism
PMID: 38460165
6
miR-140-3p suppression of ACER2 inhibits autophagy via AKT/mTOR pathway in prostate cancer bone metastasis
PMID: 39625343
Disease Associationsⓘ20
psoriasisOpen Targets
0.33Weak
HypercholesterolemiaOpen Targets
0.16Weak
knee fractureOpen Targets
0.15Weak
trauma complicationOpen Targets
0.14Weak
Hepatic fibrosisOpen Targets
0.14Weak
systemic lupus erythematosusOpen Targets
0.14Weak
neurocutaneous syndromeOpen Targets
0.09Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.07Suggestive
mathematical abilityOpen Targets
0.07Suggestive
nutritional deficiency diseaseOpen Targets
0.07Suggestive
cancerOpen Targets
0.06Suggestive
diffuse large B-cell lymphomaOpen Targets
0.05Suggestive
bladder transitional cell carcinomaOpen Targets
0.05Suggestive
Barrett's esophagusOpen Targets
0.04Suggestive
adolescent idiopathic scoliosisOpen Targets
0.04Suggestive
Abnormality of the gastrointestinal tractOpen Targets
0.03Suggestive
breast cancerOpen Targets
0.02Suggestive
schizophreniaOpen Targets
0.02Suggestive
intracranial hemorrhageOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GALCProtein interaction97%GBA1Protein interaction97%SMPD1Protein interaction97%UGCGProtein interaction97%UGT8Protein interaction97%DEGS1Protein interaction97%
Tissue Expression6 tissues
Heart
100%
Brain
64%
Liver
45%
Bone Marrow
42%
Ovary
29%
Lung
26%
Gene Interaction Network
Click a node to explore
ACER2GALCGBA1SMPD1UGCGUGT8DEGS1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q5QJU3
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.16LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.82 [0.59–1.16]
RankingsWhere ACER2 stands among ~20K protein-coding genes
  • #14,092of 20,598
    Most Researched20
  • #12,052of 17,882
    Most Constrained (LOEUF)1.16
Genes detectedACER2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Specialized Retinal Endothelial Cells Modulate Blood-Retina Barrier in Diabetic Retinopathy.
PMID: 37976214
Diabetes · 2024
1.00
2
Targeting YTHDF2 inhibits tumorigenesis of diffuse large B-cell lymphoma through ACER2-mediated ceramide catabolism.
PMID: 37865189
J Adv Res · 2024
0.90
3
The role of ACER2 in intestinal sphingolipid metabolism and gastrointestinal cancers.
PMID: 39650647
Front Immunol · 2024
0.80
4
Substrate specificity, membrane topology, and activity regulation of human alkaline ceramidase 2 (ACER2).
PMID: 20089856
J Biol Chem · 2010
0.70
5
The Hydrophilic Metabolite UMP Alleviates Obesity Traits through a HIF2α-ACER2-Ceramide Signaling Axis.
PMID: 38460165
Adv Sci (Weinh) · 2024
0.60