Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 6611
MIM: 300105
HGNC: 11123
Ensembl: ENSG00000102172
Variants:
dbSNP: 6611
ClinVar: 6611
TCGA: ENSG00000102172
COSMIC: SMS
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000102172 | ENST00000379404 | P52788 |
| ENSG00000102172 | ENST00000404933 | P52788 |
| ENSG00000102172 | ENST00000457085 | H7C2R7 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38473716 | 2024 | Effects of Spermine Synthase Deficiency in Mesenchymal Stromal Cells Are Rescued by Upstream Inhibition of Ornithine Decarboxylase. | 0 |
| 38740758 | 2024 | Reduction of spermine synthase enhances autophagy to suppress Tau accumulation. | 0 |
| 38473716 | 2024 | Effects of Spermine Synthase Deficiency in Mesenchymal Stromal Cells Are Rescued by Upstream Inhibition of Ornithine Decarboxylase. | 0 |
| 38740758 | 2024 | Reduction of spermine synthase enhances autophagy to suppress Tau accumulation. | 0 |
| 32591507 | 2020 | Spermine synthase and MYC cooperate to maintain colorectal cancer cell survival by repressing Bim expression. | 37 |
| 32838743 | 2020 | Whole-exome sequencing identifies a novel mutation in spermine synthase gene (SMS) associated with Snyder-Robinson Syndrome. | 3 |
| 32591507 | 2020 | Spermine synthase and MYC cooperate to maintain colorectal cancer cell survival by repressing Bim expression. | 37 |
| 32838743 | 2020 | Whole-exome sequencing identifies a novel mutation in spermine synthase gene (SMS) associated with Snyder-Robinson Syndrome. | 3 |
| 30733278 | 2019 | Myosin Va interacts with the exosomal protein spermine synthase. | 1 |
| 30733278 | 2019 | Myosin Va interacts with the exosomal protein spermine synthase. | 1 |
| 26761001 | 2016 | Revealing the Effects of Missense Mutations Causing Snyder-Robinson Syndrome on the Stability and Dimerization of Spermine Synthase. | 10 |
| 26761001 | 2016 | Revealing the Effects of Missense Mutations Causing Snyder-Robinson Syndrome on the Stability and Dimerization of Spermine Synthase. | 10 |
| 23408511 | 2013 | A rational free energy-based approach to understanding and targeting disease-causing missense mutations. | 8 |
| 23468611 | 2013 | Enhancing human spermine synthase activity by engineered mutations. | 10 |
| 23696453 | 2013 | A Y328C missense mutation in spermine synthase causes a mild form of Snyder-Robinson syndrome. | 21 |
Citation
Dessen P
SMS (spermine synthase)
Atlas Genet Cytogenet Oncol Haematol. 2013-05-01
Online version: http://atlasgeneticsoncology.org/gene/53256/sms
