CERS2: Ceramide Synthase 2
Key enzyme in sphingolipid metabolism and its role in cancer, neurodegeneration, and metabolic disorders
Gene Information Card
| Symbol | CERS2 |
|---|---|
| Full Name | Ceramide Synthase 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q21.3 |
| NCBI Gene ID | 29956 ncbi.nlm.nih.gov/gene/29956 |
| Ensembl ID | ENSG00000143412 |
| UniProt ID | Q96G23 |
| OMIM ID | 606207 |
| HGNC ID | 14076 |
| Aliases | LASS2, SP260, TMSG1, MGC138290 |
Description
CERS2 encodes ceramide synthase 2, a member of the longevity assurance family (LASS) that catalyzes the synthesis of ceramides with very long-chain fatty acyl moieties (C20-C26). This enzyme is critical for sphingolipid homeostasis, influencing cell signaling, apoptosis, and membrane structure. CERS2 is implicated in cancer progression, neurodegenerative diseases, and metabolic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | Downregulation of CERS2 reduces very long-chain ceramides, promoting tumor growth and metastasis | PMID: 25944712 |
| Alzheimer disease | Altered CERS2 expression affects ceramide composition in brain, contributing to amyloid-beta toxicity | PMID: 24836531 |
| Type 2 diabetes | CERS2-mediated ceramide synthesis modulates insulin sensitivity in adipose tissue | PMID: 27555329 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Kidney | 8.3 | Medium |
| Brain | 6.1 | Medium |
| Adipose tissue | 4.7 | Low |
| Lung | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| SH-SY5Y | 7.8 | Neuroblastoma cell line |
| HEK293 | 5.4 | Embryonic kidney cells |
| MCF7 | 4.1 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | 0.01% | Reduced enzyme activity in vitro |
| c.487G>A (p.Gly163Arg) | Missense | 0.005% | Altered substrate specificity |
| c.742_744del (p.Lys248del) | In-frame deletion | <0.001% | Loss of function in ceramide synthesis |
Mutation functional classification
Loss of Function (LOF)
Missense and deletion variants that impair catalytic activity or protein stability, leading to reduced very long-chain ceramide production.
Gain of Function (GOF)
Not reported in curated databases; no known activating mutations.
Dominant Negative (DN)
Not documented; no evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
Pathways
• KEGG: sphingolipid metabolism (hsa00600)
• Reactome: ceramide de novo synthesis (R-HSA-1660661)
Protein Summary
Ceramide synthase 2 is a 380-amino acid transmembrane protein localized to the endoplasmic reticulum. It catalyzes the acylation of sphingoid bases to form ceramides, preferentially using very long-chain fatty acyl-CoAs (C20-C26). The protein contains a conserved TLC (TRAM-LAG1-CLN8) domain essential for catalytic activity. CERS2 is ubiquitously expressed with highest levels in liver and kidney, and its dysregulation is linked to cancer, neurodegeneration, and metabolic diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CERS2 Knockout HEK293 Cell Line | EDJ-KQ1732 | Human | 29956 | Details Get a Quote |
| CERS2 Knockout A-549 Cell Line | EDJ-KQ21576 | Human | 29956 | Details Get a Quote |
| CERS2 Knockout HCT 116 Cell Line | EDJ-KQ21577 | Human | 29956 | Details Get a Quote |
| CERS2 Knockout HeLa Cell Line | EDJ-KQ21578 | Human | 29956 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
