ACER2: Alkaline Ceramidase 2
A key regulator of sphingolipid metabolism, cell growth, and apoptosis
Gene Information Card
| Symbol | ACER2 |
|---|---|
| Full Name | Alkaline ceramidase 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 9p22.1 |
| NCBI Gene ID | 340485 ncbi.nlm.nih.gov/gene/340485 |
| Ensembl ID | ENSG00000177000 |
| UniProt ID | Q5QJU3 |
| OMIM ID | 613234 |
| HGNC ID | 23666 |
| Aliases | ALCER2, ASAH3L, FLJ21544, MGC45416 |
Description
ACER2 encodes alkaline ceramidase 2, an enzyme that catalyzes the hydrolysis of ceramide into sphingosine and free fatty acid at alkaline pH. It plays a critical role in sphingolipid metabolism, regulating cellular levels of ceramide, sphingosine, and sphingosine-1-phosphate, thereby influencing cell proliferation, differentiation, apoptosis, and migration. ACER2 is localized to the Golgi apparatus and is highly expressed in placenta, testis, and certain cancer cell lines.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (breast, colon, prostate) | Altered ceramide/sphingosine-1-phosphate balance promotes tumor growth and metastasis | COSMIC, literature |
| Neurodegenerative disorders | Dysregulation of sphingolipid metabolism linked to neuronal apoptosis | UniProt, literature |
| Inflammatory diseases | Modulation of sphingosine-1-phosphate signaling affects immune cell trafficking | UniProt, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Placenta | 12.3 | High |
| Testis | 8.7 | Medium |
| Small intestine | 6.1 | Medium |
| Colon | 4.5 | Low |
| Breast | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | High expression |
| MCF7 | 10.8 | High expression |
| HCT116 | 9.4 | Medium expression |
| HEK293 | 6.7 | Medium expression |
| A549 | 4.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.511C>T (p.Arg171Trp) | Missense | <0.01% | Reduced enzymatic activity |
| c.764G>A (p.Arg255His) | Missense | <0.01% | Unknown functional effect |
| c.1021_1023del (p.Phe341del) | In-frame deletion | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
p.Phe341del and p.Arg171Trp reduce or abolish ceramidase activity, leading to ceramide accumulation.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in ACER2.
Dominant Negative (DN)
No dominant-negative mutations described for ACER2.
View complete mutation data：
Gene Ontology (GO)
| • ceramidase activity (GO:0017040) | • ceramide metabolic process (GO:0006672) |
| • Golgi apparatus (GO:0005794) | • protein binding (GO:0005515) |
| • ceramide biosynthetic process (GO:0046513) |
Pathways
• Sphingolipid metabolism (Reactome: R-HSA-428157)
• Sphingosine-1-phosphate signaling (Reactome: R-HSA-428930)
Protein Summary
Alkaline ceramidase 2 (ACER2) is a 275-amino acid integral membrane protein with six transmembrane domains. It localizes to the Golgi apparatus and functions optimally at alkaline pH (pH 8.0-9.0). The enzyme hydrolyzes ceramide to sphingosine, which can be phosphorylated to sphingosine-1-phosphate, a potent signaling lipid. ACER2 is involved in cell growth regulation, apoptosis, and migration, and its expression is altered in various cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ACER2 Knockout HEK293 Cell Line | EDJ-KQ1093 | Human | 340485 | Details Get a Quote |
| ACER2 Knockout A-549 Cell Line | EDJ-KQ21607 | Human | 340485 | Details Get a Quote |
| ACER2 Knockout HCT 116 Cell Line | EDJ-KQ21609 | Human | 340485 | Details Get a Quote |
| ACER2 Knockout HeLa Cell Line | EDJ-KQ21610 | Human | 340485 | Details Get a Quote |
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