Identity
HGNC
LOCATION
20p12.1
LOCUSID
ALIAS
C20orf38,LCB
FUSION GENES
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: 55304
MIM: 611120
HGNC: 16253
Ensembl: ENSG00000172296
Variants:
dbSNP: 55304
ClinVar: 55304
TCGA: ENSG00000172296
COSMIC: SPTLC3
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000172296 | ENST00000399002 | Q9NUV7 |
| ENSG00000172296 | ENST00000431275 | H0Y733 |
| ENSG00000172296 | ENST00000434210 | B1AKS2 |
| ENSG00000172296 | ENST00000450297 | B1AKS3 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35503173 | 2022 | Serine Palmitoyltransferase Subunit 3 and Metabolic Diseases. | 3 |
| 35503173 | 2022 | Serine Palmitoyltransferase Subunit 3 and Metabolic Diseases. | 3 |
| 33964854 | 2021 | The associations between individual plasma SFAs, serine palmitoyl-transferase long-chain base subunit 3 gene rs680379 polymorphism, and type 2 diabetes among Chinese adults. | 4 |
| 33964854 | 2021 | The associations between individual plasma SFAs, serine palmitoyl-transferase long-chain base subunit 3 gene rs680379 polymorphism, and type 2 diabetes among Chinese adults. | 4 |
| 28056980 | 2017 | Association of the SPTLC3 rs364585 polymorphism and serum lipid profiles in two Chinese ethnic groups. | 19 |
| 28673556 | 2017 | Exome sequencing identifies targets in the treatment-resistant ophthalmoplegic subphenotype of myasthenia gravis. | 5 |
| 28056980 | 2017 | Association of the SPTLC3 rs364585 polymorphism and serum lipid profiles in two Chinese ethnic groups. | 19 |
| 28673556 | 2017 | Exome sequencing identifies targets in the treatment-resistant ophthalmoplegic subphenotype of myasthenia gravis. | 5 |
| 26265176 | 2015 | LC3B globular structures correlate with survival in esophageal adenocarcinoma. | 16 |
| 26265176 | 2015 | LC3B globular structures correlate with survival in esophageal adenocarcinoma. | 16 |
| 20037589 | 2010 | A genome-wide perspective of genetic variation in human metabolism. | 323 |
| 20379614 | 2010 | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. | 78 |
| 20628086 | 2010 | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. | 15 |
| 20037589 | 2010 | A genome-wide perspective of genetic variation in human metabolism. | 323 |
| 20379614 | 2010 | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. | 78 |
Citation
Dessen P
SPTLC3 (serine palmitoyltransferase long chain base subunit 3)
Atlas Genet Cytogenet Oncol Haematol. 2003-12-01
Online version: http://atlasgeneticsoncology.org/gene/881/sptlc3
