ASAH2 (N-Acylsphingosine Amidohydrolase 2)
Gene encoding neutral ceramidase, a key enzyme in sphingolipid metabolism
Gene Information Card
| Symbol | ASAH2 |
|---|---|
| Full Name | N-acylsphingosine amidohydrolase 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 10q11.23 |
| NCBI Gene ID | 56624 ncbi.nlm.nih.gov/gene/56624 |
| Ensembl ID | ENSG00000120053 |
| UniProt ID | Q9NR71 |
| OMIM ID | 613488 |
| HGNC ID | 18007 |
| Aliases | NCDase, neutral ceramidase, ASAH2A, ASAH2B |
Description
ASAH2 encodes neutral ceramidase, an enzyme that catalyzes the hydrolysis of ceramide into sphingosine and free fatty acid. It plays a critical role in sphingolipid metabolism, regulating cellular levels of ceramide, sphingosine, and sphingosine-1-phosphate, which are involved in cell signaling, apoptosis, and proliferation. The enzyme is membrane-associated and active at neutral pH.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered ceramide metabolism via ASAH2 dysregulation may promote tumor cell survival and resistance to apoptosis. | PMID: 23455478, COSMIC |
| Inflammatory bowel disease | Increased ASAH2 expression linked to ceramide accumulation and intestinal inflammation. | PMID: 28798049 |
| Diabetes (type 2) | Ceramide accumulation in tissues; ASAH2 modulation affects insulin sensitivity. | PMID: 25635097 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Small intestine | 12.5 | Medium |
| Colon | 8.3 | Medium |
| Kidney | 6.1 | Low |
| Liver | 4.7 | Low |
| Brain | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 5.2 | Cervical cancer cell line |
| HCT116 | 8.9 | Colorectal carcinoma cell line |
| HEK293 | 3.4 | Embryonic kidney cell line |
| MCF7 | 4.1 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | <0.01% | Reduced enzymatic activity (loss-of-function) |
| c.1286A>G (p.Asn429Ser) | Missense | <0.01% | Unknown functional effect |
| c.1573G>A (p.Glu525Lys) | Missense | <0.01% | Potential gain-of-function (increased ceramidase activity) |
Mutation functional classification
Loss of Function (LOF)
p.Arg339Trp reduces catalytic activity, impairing ceramide hydrolysis.
Gain of Function (GOF)
p.Glu525Lys may increase ceramidase activity, leading to reduced ceramide levels.
Dominant Negative (DN)
No dominant-negative mutations reported for ASAH2.
View complete mutation data：
Gene Ontology (GO)
| • neutral ceramidase activity (GO:0004181) | • ceramide metabolic process (GO:0006672) |
| • integral component of membrane (GO:0016021) | • cytoplasm (GO:0005737) |
Pathways
• Sphingolipid metabolism (Reactome: R-HSA-428157)
• Sphingosine-1-phosphate signaling (Reactome: R-HSA-428157)
Protein Summary
Neutral ceramidase (NCDase) is a 756-amino acid membrane-bound enzyme that hydrolyzes ceramide to sphingosine and free fatty acid at neutral pH. It is widely expressed in tissues, with highest levels in small intestine and colon. The protein contains a signal peptide and transmembrane domain, and its activity regulates cellular ceramide/sphingosine balance, impacting cell survival, inflammation, and metabolism.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ASAH2 Knockout HEK293 Cell Line | EDJ-KQ1744 | Human | 56624 | Details Get a Quote |
| ASAH2B Knockout HEK293 Cell Line | EDJ-KQ12449 | Human | 653308 | Details Get a Quote |
| ASAH2B Knockout A-549 Cell Line | EDJ-KQ41381 | Human | 653308 | Details Get a Quote |
| ASAH2B Knockout HCT 116 Cell Line | EDJ-KQ41382 | Human | 653308 | Details Get a Quote |
| ASAH2B Knockout HeLa Cell Line | EDJ-KQ41383 | Human | 653308 | Details Get a Quote |
| ASAH2 Knockout A-549 Cell Line | EDJ-KQ21605 | Human | 56624 | Details Get a Quote |
| ASAH2 Knockout HCT 116 Cell Line | EDJ-KQ21606 | Human | 56624 | Details Get a Quote |
| ASAH2 Knockout HeLa Cell Line | EDJ-KQ56743 | Human | 56624 | Details Get a Quote |
Displaying Records 1 To 8 Of 8 Records
