Entity Detail — Knowledge Graph Node
This page aggregates everything SciDEX knows about NOTCH2NLC: 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.
NOTCH2NLC repeat expansions cause neuronal intranuclear inclusion disease (NIID) and other neurodegenerative disorders. The GGC repeat expansions in the 5'UTR lead to toxic gain-of-function.
| Gene Symbol | NOTCH2NLC |
| Full Name | Notch 2 N-terminal-like protein |
| Chromosome | 1q12 |
| Protein Type | Receptor |
| Function | In the normal nervous system, Notch signaling regulates critical processes |
| Gene Type | Protein-coding |
| Pathways | NOTCH, Notch, Notch signaling, Notch pathway |
| UniProt ID | Q9P0M4 |
| NCBI Gene ID | 100302521 |
| Ensembl ID | ENSG00000237289 |
| GeneCards | NOTCH2NLC |
| Human Protein Atlas | NOTCH2NLC |
| Transcript Length | 2,451 bp |
| Associated Diseases | Essential Tremor, Frontotemporal Dementia, Neuronal Intranuclear Inclusion Disease, Parkinson's disease, neurodegeneration |
| Interactions | NPM1, G3BP1, NLRP3, tyrosine hydroxylase, GENES, AND |
| KG Connections | 39 knowledge graph edges |
| Databases | GeneCardsHPASTRING |
Knowledge base pages for this entity
graph TD
NOTCH2NLC["<b>NOTCH2NLC</b>"]
Ms{"Ms"}
NOTCH2NLC -->|"activates"| Ms
GENES["GENES"]
NOTCH2NLC -->|"activates"| GENES
NPM1["NPM1"]
NOTCH2NLC -->|"activates"| NPM1
G3BP1["G3BP1"]
NOTCH2NLC -->|"activates"| G3BP1
Notch(["Notch"])
NOTCH2NLC -->|"activates"| Notch
AND["AND"]
NOTCH2NLC -->|"activates"| AND
neurodegeneration["neurodegeneration"]
NOTCH2NLC -->|"implicated in"| neurodegeneration
GENES -->|"activates"| NOTCH2NLC
G3BP1 -->|"activates"| NOTCH2NLC
NPM1 -->|"activates"| NOTCH2NLC
NEUROTOXICITY["NEUROTOXICITY"]
NEUROTOXICITY -->|"activates"| NOTCH2NLC
style NOTCH2NLC fill:#1a3a4a,stroke:#4fc3f7,stroke-width:3px,color:#e0e0e0| Target | Relation | Type | Str |
|---|---|---|---|
| Neuronal Intranuclear Inclusion Disease | associated_with | disease | 0.95 |
| Intranuclear Aggregation | promotes | mechanism | 0.95 |
| Parkinson'S Disease | risk_factor_for | disease | 0.95 |
| Essential Tremor | associated_with | disease | 0.90 |
| mitochondrial dysfunction | causes | process | 0.90 |
| Parkinson's disease | risk_factor_for | disease | 0.90 |
| Mitochondrial Dysfunction | causes | process | 0.90 |
| Frontotemporal Dementia | associated_with | disease | 0.90 |
| cell death | promotes | process | 0.85 |
| α-synuclein | promotes | protein | 0.85 |
| neuronal hyperexcitability | causes | phenotype | 0.80 |
| tyrosine hydroxylase | inhibits | protein | 0.75 |
| Ms | activates | disease | 0.65 |
| Inflammation | inhibits | disease | 0.65 |
| Ms | inhibits | disease | 0.65 |
| NPM1 | activates | gene | 0.60 |
| G3BP1 | activates | gene | 0.60 |
| NLRP3 | inhibits | gene | 0.60 |
| neurodegeneration | causes | disease | 0.60 |
| GENES | activates | gene | 0.60 |
| Notch | activates | pathway | 0.60 |
| AND | inhibits | gene | 0.60 |
| GENES | inhibits | gene | 0.60 |
| NEURODEGENERATIVE DISEASES | inhibits | gene | 0.60 |
| INFLAMMATION | inhibits | gene | 0.60 |
| AUTOPHAGY | inhibits | gene | 0.60 |
| Autophagy | inhibits | pathway | 0.60 |
| Nf-Κb | inhibits | pathway | 0.60 |
| Notch | associated_with | pathway | 0.60 |
| Parkinson's disease | implicated_in | disease | 0.60 |
| frontotemporal dementia | implicated_in | disease | 0.60 |
| neurons | expressed_in | cell_type | 0.60 |
| RNA | expressed_in | gene | 0.60 |
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
Scientific publications cited in analyses involving this entity
| Title & PMID | Authors | Journal | Year | Citations |
|---|---|---|---|---|
| No papers found | ||||