SAMD8 Gene - Sphingomyelin Synthase Related
Key regulator of sphingolipid metabolism and cellular signaling
Gene Information Card
| Symbol | SAMD8 |
|---|---|
| Full Name | Sterile Alpha Motif Domain Containing 8 |
| Gene Type | Protein coding |
| Chromosomal Location | 10q22.2 |
| NCBI Gene ID | 142891 ncbi.nlm.nih.gov/gene/142891 |
| Ensembl ID | ENSG00000119977 |
| UniProt ID | Q96L73 |
| OMIM ID | 610808 |
| HGNC ID | 25496 |
| Aliases | SMSr, SAMD8A, SAMD8B |
Description
SAMD8 encodes a protein with a sterile alpha motif (SAM) domain and is involved in sphingomyelin synthesis. It functions as a ceramide phosphoethanolamine synthase, regulating sphingolipid homeostasis and impacting cellular processes such as proliferation, apoptosis, and membrane dynamics.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered sphingolipid metabolism promotes tumor growth and resistance to apoptosis | PMID: 25620004 |
| Neurodegenerative disorders | Dysregulation of sphingomyelin synthesis affects neuronal membrane integrity and signaling | PMID: 27334618 |
| Metabolic syndrome | SAMD8 variants may influence lipid metabolism and insulin sensitivity | PMID: 28498854 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Liver | 8.3 | Low |
| Kidney | 15.2 | Medium |
| Testis | 20.1 | High |
| Lung | 6.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.4 | High expression in embryonic kidney cells |
| HeLa | 14.2 | Moderate expression in cervical cancer cells |
| SH-SY5Y | 22.0 | High expression in neuroblastoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | 0.01% | Potential loss of function |
| c.245C>T | Nonsense | 0.005% | Truncated protein, likely loss of function |
| c.678G>A | Missense | 0.02% | Altered enzyme activity |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein or disrupt the SAM domain.
Gain of Function (GOF)
Not well documented; some missense variants may increase enzyme activity.
Dominant Negative (DN)
Possible for mutations affecting dimerization or substrate binding.
View complete mutation data：
Gene Ontology (GO)
| • sphingomyelin synthase activity | • ceramide phosphoethanolamine synthase activity |
| • sphingolipid biosynthetic process | • membrane |
| • Golgi apparatus | • protein homodimerization activity |
Pathways
• Sphingolipid metabolism
• Ceramide salvage pathway
• Sphingomyelin de novo synthesis
Protein Summary
The SAMD8 protein is a 416-amino acid transmembrane enzyme localized to the Golgi apparatus. It catalyzes the conversion of ceramide to sphingomyelin or ceramide phosphoethanolamine, playing a critical role in sphingolipid homeostasis. The SAM domain mediates protein-protein interactions and may regulate enzyme activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SAMD8 Knockout HEK293 Cell Line | EDJ-KQ10218 | Human | 142891 | Details Get a Quote |
| SAMD8 Knockout HCT 116 Cell Line | EDJ-KQ36139 | Human | 142891 | Details Get a Quote |
| SAMD8 Knockout A-549 Cell Line | EDJ-KQ37379 | Human | 142891 | Details Get a Quote |
| SAMD8 Knockout HeLa Cell Line | EDJ-KQ37381 | Human | 142891 | Details Get a Quote |
