SAT2
Spermidine/Spermine N1-Acetyltransferase Family Member 2
Gene Information Card
| Symbol | SAT2 |
|---|---|
| Full Name | Spermidine/Spermine N1-Acetyltransferase Family Member 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 17p13.1 |
| NCBI Gene ID | 112483 ncbi.nlm.nih.gov/gene/112483 |
| Ensembl ID | ENSG00000141510 |
| UniProt ID | Q96F10 |
| OMIM ID | 615583 |
| HGNC ID | 10535 |
| Aliases | SSAT2, SAT, SSAT-2 |
Description
SAT2 (Spermidine/Spermine N1-Acetyltransferase Family Member 2) is a protein-coding gene located on chromosome 17p13.1. It encodes an enzyme that catalyzes the acetylation of spermidine and spermine, playing a key role in polyamine catabolism and regulation of cellular polyamine levels.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Polyamine metabolism disorders | Deficiency in SAT2 activity leads to accumulation of spermidine and spermine, disrupting cellular homeostasis | OMIM #615583 |
| Cancer | Altered SAT2 expression affects polyamine levels, influencing tumor growth and progression | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Liver | 8.3 | Low |
| Kidney | 6.1 | Low |
| Brain | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.0 | High expression |
| HeLa | 9.8 | Moderate expression |
| HepG2 | 7.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | 0.01% | Reduced enzyme activity |
| c.200C>T | nonsense | 0.001% | Premature truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations that reduce or abolish acetyltransferase activity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004040 (GO:0004040) | • GO:0006597 (GO:0006597) |
| • GO:0016746 (GO:0016746) |
Pathways
• Polyamine metabolism (Reactome: R-HSA-351202)
Protein Summary
SAT2 encodes a 171-amino acid protein that belongs to the N-acetyltransferase family. It catalyzes the N1-acetylation of spermidine and spermine, facilitating their export or degradation. The protein is localized in the cytoplasm and is involved in maintaining polyamine homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SAT2 Knockout HEK293 Cell Line | EDJ-KQ7382 | Human | 112483 | Details Get a Quote |
| SAT2 Knockout A-549 Cell Line | EDJ-KQ32521 | Human | 112483 | Details Get a Quote |
| SAT2 Knockout HCT 116 Cell Line | EDJ-KQ32522 | Human | 112483 | Details Get a Quote |
| SAT2 Knockout HeLa Cell Line | EDJ-KQ32523 | Human | 112483 | Details Get a Quote |
