Entity Detail — Knowledge Graph Node
This page aggregates everything SciDEX knows about SPTLC2: its mechanistic relationships (Knowledge Graph edges), hypotheses targeting it, analyses mentioning it, and supporting scientific papers. The interactive graph below shows its immediate neighbors. All content is AI-synthesized from peer-reviewed literature.
SPTLC2 (Serine Palmitoyltransferase Long Chain Base Subunit 2) encodes the small subunit of serine palmitoyltransferase, a critical enzyme in sphingolipid biosynthesis. Mutations cause hereditary sensory neuropathy; dysregulation implicated in Alzheimer's and Parkinson's diseases.
No AI portrait yet
| Gene Symbol | SPTLC2 |
| Full Name | Serine Palmitoyltransferase Long Chain Base Subunit 2 |
| Chromosome | 14q31.3 |
| Function | ### Serine Palmitoyltransferase Activity |
| Primary Expression | various brain regions: |
| Molecular Weight | 62 kDa |
| Amino Acids | 422 aa |
| Exons | 12 |
| UniProt ID | O15270 |
| NCBI Gene ID | 9517 |
| Ensembl ID | ENSG00000166800 |
| OMIM | 610313 |
| GeneCards | SPTLC2 |
| Human Protein Atlas | SPTLC2 |
| Associated Diseases | Neuropathy |
| Interactions | ADRA2A, ALDH1A2, ALS, GENES, IDH1, IRS1 |
| KG Connections | 45 knowledge graph edges |
| Databases | GeneCardsHPASTRING |
Knowledge base pages for this entity
graph TD
SPTLC2["SPTLC2"]
Als["Als"]
SPTLC2 -->|"expressed in"| Als
Cardiovascular["Cardiovascular"]
SPTLC2 -->|"expressed in"| Cardiovascular
ALS["ALS"]
SPTLC2 -->|"expressed in"| ALS
Neuropathy["Neuropathy"]
SPTLC2 -->|"associated with"| Neuropathy
SPTLC1["SPTLC1"]
SPTLC2 -->|"expressed in"| SPTLC1
Lipid_Metabolism["Lipid Metabolism"]
SPTLC2 -->|"expressed in"| Lipid_Metabolism
SPTLC1["SPTLC1"]
SPTLC2 -->|"regulates"| SPTLC1
ABCA1["ABCA1"]
SPTLC2 -->|"regulates"| ABCA1
Cholesterol["Cholesterol"]
SPTLC2 -->|"interacts with"| Cholesterol
Macrophage["Macrophage"]
SPTLC2 -->|"interacts with"| Macrophage
Sphingolipid["Sphingolipid"]
SPTLC2 -->|"expressed in"| Sphingolipid
SPTLC1["SPTLC1"]
SPTLC1 -->|"expressed in"| SPTLC2
GENES["GENES"]
GENES -->|"expressed in"| SPTLC2
AND["AND"]
AND -->|"expressed in"| SPTLC2
AND["AND"]
AND -->|"associated with"| SPTLC2
ABCA1["ABCA1"]
ABCA1 -->|"regulates"| SPTLC2
AND["AND"]
AND -->|"regulates"| SPTLC2
Ca1["Ca1"]
SPTLC2 -->|"expressed in"| Ca1
Macrophage["Macrophage"]
SPTLC2 -->|"expressed in"| Macrophage
CLUSTERIN["CLUSTERIN"]
CLUSTERIN -->|"co discussed"| SPTLC2
GENES["GENES"]
GENES -->|"activates"| SPTLC2
SPTLC1["SPTLC1"]
SPTLC1 -->|"activates"| SPTLC2
neurodegeneration["neurodegeneration"]
SPTLC2 -->|"implicated in"| neurodegeneration| Target | Relation | Type | Str |
|---|---|---|---|
| Als | expressed_in | disease | 0.65 |
| Cardiovascular | expressed_in | disease | 0.65 |
| ALS | expressed_in | disease | 0.65 |
| Neuropathy | associated_with | disease | 0.65 |
| Sphingolipid | expressed_in | pathway | 0.60 |
| lipid metabolism | participates_in | pathway | 0.60 |
| ALS | interacts_with | disease | 0.60 |
| neurons | expressed_in | cell_type | 0.60 |
| SYNE2 | activates | gene | 0.60 |
| Ras | expressed_in | protein | 0.60 |
| App | expressed_in | protein | 0.60 |
| Raf | interacts_with | protein | 0.60 |
| Ras | regulates | protein | 0.60 |
| Rb | expressed_in | protein | 0.60 |
| Lipid Metabolism | expressed_in | pathway | 0.60 |
| Cholesterol | interacts_with | pathway | 0.60 |
| Macrophage | interacts_with | cell_type | 0.60 |
| SPTLC1 | expressed_in | gene | 0.60 |
| SPTLC1 | regulates | gene | 0.60 |
| ABCA1 | regulates | gene | 0.60 |
| Ca1 | expressed_in | brain_region | 0.55 |
| Macrophage | expressed_in | cell_type | 0.55 |
| SERINE PALMITOYLTRANSFERASE | regulates | protein | 0.50 |
| SPTLC1 | interacts_with | gene | 0.50 |
| Source | Relation | Type | Str |
|---|---|---|---|
| SPTLC1 | regulates | gene | 0.60 |
| SPTLC1 | interacts_with | gene | 0.60 |
| ALS | associated_with | gene | 0.60 |
| ALS | interacts_with | gene | 0.60 |
| IRS1 | activates | gene | 0.60 |
| SPTLC1 | expressed_in | gene | 0.60 |
| ABCA1 | regulates | gene | 0.60 |
| P2RX1 | activates | gene | 0.60 |
| AND | expressed_in | gene | 0.60 |
| AND | associated_with | gene | 0.60 |
| AND | regulates | gene | 0.60 |
| LPL | activates | gene | 0.60 |
| GENES | expressed_in | gene | 0.60 |
| ADRA2A | activates | gene | 0.60 |
| ALDH1A2 | activates | gene | 0.60 |
| IDH1 | activates | gene | 0.60 |
| ITPKA | activates | gene | 0.60 |
| CLUSTERIN | co_discussed | protein | 0.50 |
| SPTLC1 | activates | gene | 0.50 |
| ABCA1 | co_expressed_with | gene | 0.50 |
| GENES | activates | gene | 0.50 |
Hypotheses where this entity is a therapeutic target
| Hypothesis | Score | Disease | Analysis |
|---|---|---|---|
| No targeting hypotheses | |||
Scientific analyses that reference this entity
No analyses mention this entity
Experimental studies targeting or related to this entity
| Experiment | Type | Disease | Score | Feasibility | Model | Status | Est. Cost |
|---|---|---|---|---|---|---|---|
| No experiments found | |||||||
Scientific publications cited in analyses involving this entity
| Title & PMID | Authors | Journal | Year | Citations |
|---|---|---|---|---|
| No papers found | ||||
Multi-agent debates referencing this entity
No debates reference this entity
Hypotheses and analyses mentioning SPTLC2 in their description or question text
No additional research found