Identity
HGNC
LOCATION
14q24.3
LOCUSID
ALIAS
HSN1C,LCB2,LCB2A,NSAN1C,SPT2,hLCB2a
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: 9517
MIM: 605713
HGNC: 11278
Ensembl: ENSG00000100596
Variants:
dbSNP: 9517
ClinVar: 9517
TCGA: ENSG00000100596
COSMIC: SPTLC2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000100596 | ENST00000216484 | O15270 |
| ENSG00000100596 | ENST00000216484 | A0A024R6H1 |
| ENSG00000100596 | ENST00000554901 | H0YJV2 |
| ENSG00000100596 | ENST00000556607 | H0YJ96 |
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38041679 | 2024 | Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis. | 4 |
| 38041684 | 2024 | Recurrent de-novo gain-of-function mutation in SPTLC2 confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis. | 4 |
| 38316966 | 2024 | SPTLC2 variants are associated with early-onset ALS and FTD due to aberrant sphingolipid synthesis. | 1 |
| 38041679 | 2024 | Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis. | 4 |
| 38041684 | 2024 | Recurrent de-novo gain-of-function mutation in SPTLC2 confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis. | 4 |
| 38316966 | 2024 | SPTLC2 variants are associated with early-onset ALS and FTD due to aberrant sphingolipid synthesis. | 1 |
| 36966328 | 2023 | Mutation screening of SPTLC1 and SPTLC2 in amyotrophic lateral sclerosis. | 5 |
| 37107689 | 2023 | Specific Deoxyceramide Species Correlate with Expression of Macular Telangiectasia Type 2 (MacTel2) in a SPTLC2 Carrier HSAN1 Family. | 0 |
| 36966328 | 2023 | Mutation screening of SPTLC1 and SPTLC2 in amyotrophic lateral sclerosis. | 5 |
| 37107689 | 2023 | Specific Deoxyceramide Species Correlate with Expression of Macular Telangiectasia Type 2 (MacTel2) in a SPTLC2 Carrier HSAN1 Family. | 0 |
| 33558762 | 2021 | Structural insights into the assembly and substrate selectivity of human SPT-ORMDL3 complex. | 37 |
| 34090020 | 2021 | Rare mutations in ATL3, SPTLC2 and SCN9A explaining hereditary sensory neuropathy and congenital insensitivity to pain in a Brazilian cohort. | 2 |
| 33558762 | 2021 | Structural insights into the assembly and substrate selectivity of human SPT-ORMDL3 complex. | 37 |
| 34090020 | 2021 | Rare mutations in ATL3, SPTLC2 and SCN9A explaining hereditary sensory neuropathy and congenital insensitivity to pain in a Brazilian cohort. | 2 |
| 33031402 | 2020 | Increased expression of serine palmitoyl transferase and ORMDL3 polymorphism are associated with eosinophilic inflammation and airflow limitation in aspirin-exacerbated respiratory disease. | 4 |
Citation
Dessen P
SPTLC2 (serine palmitoyltransferase long chain base subunit 2)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/74218/sptlc2-(serine-palmitoyltransferase-long-chain-base-subunit-2)
