gene

SPTLC2

Entity Detail — Knowledge Graph Node

Understanding Entity Pages

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.

45Connections
0Hypotheses
0Analyses
24Outgoing
21Incoming
0Experiments
0Debates

Summary

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.

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🧬 Gene Info
Gene SymbolSPTLC2
Full NameSerine Palmitoyltransferase Long Chain Base Subunit 2
Chromosome14q31.3
Function### Serine Palmitoyltransferase Activity
Primary Expressionvarious brain regions:
Molecular Weight62 kDa
Amino Acids422 aa
Exons12
UniProt IDO15270
NCBI Gene ID9517
Ensembl IDENSG00000166800
OMIM610313
GeneCardsSPTLC2
Human Protein AtlasSPTLC2
Associated DiseasesNeuropathy
InteractionsADRA2A, ALDH1A2, ALS, GENES, IDH1, IRS1
KG Connections45 knowledge graph edges
DatabasesGeneCardsHPASTRING
🔮 Predicted Structure: SPTLC2 — AlphaFold O15270 Click to expand

AI-predicted structure from AlphaFold | Powered by Mol*

Wiki Pages (2)

Knowledge base pages for this entity

Canonical Page

SPTLC2 Gene

gene · 1612 words

SPTLC2 Protein

protein · 635 words

Pathway Diagram

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

Outgoing (24)

TargetRelationTypeStr
Alsexpressed_indisease0.65
Cardiovascularexpressed_indisease0.65
ALSexpressed_indisease0.65
Neuropathyassociated_withdisease0.65
Sphingolipidexpressed_inpathway0.60

Incoming (21)

SourceRelationTypeStr
SPTLC1regulatesgene0.60
SPTLC1interacts_withgene0.60
ALSassociated_withgene0.60
ALSinteracts_withgene0.60
IRS1activatesgene0.60

Targeting Hypotheses (0)

Hypotheses where this entity is a therapeutic target

HypothesisScoreDiseaseAnalysis
No targeting hypotheses

Mentioning Analyses (0)

Scientific analyses that reference this entity

No analyses mention this entity

Experiments (0)

Experimental studies targeting or related to this entity

ExperimentTypeDiseaseScoreFeasibilityModelStatusEst. Cost
No experiments found

Related Papers (0)

Scientific publications cited in analyses involving this entity

Title & PMIDAuthorsJournalYearCitations
No papers found

Debates (0)

Multi-agent debates referencing this entity

No debates reference this entity

Related Research

Hypotheses and analyses mentioning SPTLC2 in their description or question text

No additional research found