HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ASAH2
N-acylsphingosine amidohydrolase 2
Chromosome 10 · 10q11.23
NCBI Gene: 56624Ensembl: ENSG00000188611.17HGNC: HGNC:18860UniProt: Q9NR71
35PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
N-acylsphingosine amidohydrolase activityplasma membraneGolgi apparatusmitochondrionadolescent idiopathic scoliosisperipheral vascular diseaseliver diseaseneoplasm
✦AI Summary

ASAH2 (N-acylsphingosine amidohydrolase 2) is a neutral ceramidase functioning as a plasma membrane enzyme that hydrolyzes ceramides into sphingosine and free fatty acids at neutral pH 1. It catalyzes bidirectional reactions in sphingolipid metabolism, both degrading ceramides and synthesizing them from fatty acids and sphingosine, thereby regulating bioactive lipid signaling pathways controlling cell proliferation, apoptosis, and differentiation 1. ASAH2 participates in sphingomyelin degradation alongside sphingomyelinase to produce sphingosine-1-phosphate, including digestion of dietary sphingolipids 1. Disease relevance is substantial across multiple conditions. In cancer, β5-integrin upregulates ASAH2 through Src-STAT3 signaling to reduce ceramide levels and suppress chemotherapy-induced pyroptosis, conferring chemoresistance in lung and pancreatic cancers 2. ASAH2 protects myeloid-derived suppressor cells from ferroptosis by destabilizing p53, promoting tumor immune evasion 3. Conversely, genetic studies identify ASAH2 as protective against ovarian cancer risk 4. ASAH2 emerges as a potential early biomarker for Alzheimer's disease, with elevated serum levels preceding clinical symptoms 5. Clinically, ASAH2 inhibition represents a therapeutic strategy to reactivate pyroptosis in chemoresistant cancers and reduce MDSC-mediated immunosuppression. The enzyme's role in lipid homeostasis suggests broader applications in metabolic and neurodegenerative diseases 1.

Sources cited
1
ASAH2 is a neutral ceramidase that hydrolyzes ceramides into sphingosine and free fatty acids; regulates bioactive lipid signaling; participates in sphingomyelin degradation
PMID: 31817238
2
β5-integrin upregulates ASAH2 through Src-STAT3 signaling to reduce ceramide and suppress chemotherapy-induced pyroptosis, conferring chemoresistance in lung and pancreatic cancers
PMID: 36630483
3
ASAH2 is highly expressed in tumor-infiltrating MDSCs; protects them from ferroptosis by destabilizing p53; ASAH2 inhibition induces MDSC death and enhances anti-tumor immunity
PMID: 33547170
4
ASAH2 is genetically associated with decreased risk of ovarian cancer
PMID: 39972314
5
ASAH2 is significantly elevated in serum of individuals who later develop Alzheimer's dementia, suggesting potential early biomarker role; dysregulated in AD progression
PMID: 40772191
6
ASAH2 is nominated as novel candidate driver for lipoprotein metabolism; Asah2-/- mice show altered HDL and lipoprotein profiles
PMID: 37944753
7
High-dose ceramide induces ASAH2 expression changes and modifies sphingolipid metabolism in embryonic hippocampal cells
PMID: 40149966
Disease Associationsⓘ20
adolescent idiopathic scoliosisOpen Targets
0.34Weak
peripheral vascular diseaseOpen Targets
0.16Weak
liver diseaseOpen Targets
0.09Suggestive
neoplasmOpen Targets
0.08Suggestive
injuryOpen Targets
0.08Suggestive
Alzheimer diseaseOpen Targets
0.07Suggestive
Abnormality of the skeletal systemOpen Targets
0.07Suggestive
breast cancerOpen Targets
0.06Suggestive
cancerOpen Targets
0.05Suggestive
breast carcinomaOpen Targets
0.04Suggestive
coronary artery diseaseOpen Targets
0.04Suggestive
acute myeloid leukemiaOpen Targets
0.03Suggestive
Crohn's diseaseOpen Targets
0.03Suggestive
hypertrophic cardiomyopathyOpen Targets
0.03Suggestive
gastric carcinomaOpen Targets
0.02Suggestive
gliomaOpen Targets
0.02Suggestive
Insulin resistanceOpen Targets
0.02Suggestive
Parkinson diseaseOpen Targets
0.01Suggestive
acute kidney injuryOpen Targets
0.01Suggestive
lung cancerOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
KDSRProtein interaction98%GALCProtein interaction98%GBA1Protein interaction98%SMPD1Protein interaction98%UGCGProtein interaction98%UGT8Protein interaction98%
Tissue Expression6 tissues
Liver
100%
Brain
61%
Ovary
57%
Lung
28%
Heart
20%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
ASAH2KDSRGALCGBA1SMPD1UGCGUGT8
PROTEIN STRUCTURE
Preparing viewer…
PDB4WGK · 2.58 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.84LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.66 [0.52–0.84]
RankingsWhere ASAH2 stands among ~20K protein-coding genes
  • #10,915of 20,598
    Most Researched35
  • #7,199of 17,882
    Most Constrained (LOEUF)0.84
Genes detectedASAH2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Targeting Src reactivates pyroptosis to reverse chemoresistance in lung and pancreatic cancer models.
PMID: 36630483
Sci Transl Med · 2023
1.00
2
Role of Ceramidases in Sphingolipid Metabolism and Human Diseases.
PMID: 31817238
Cells · 2019
0.90
3
Identification of genetic drivers of plasma lipoprotein size in the Diversity Outbred mouse population.
PMID: 37944753
J Lipid Res · 2023
0.80
4
Investigating the Pathological Relevance of N-acylsphingosine Amidohydrolase 2 (ASAH2) and Related Proteins in Alzheimer's Disease.
PMID: 40772191
Cureus · 2025
0.70
5
Potential drug targets for ovarian cancer identified through Mendelian randomization and colocalization analysis.
PMID: 39972314
J Ovarian Res · 2025
0.60