gene

NOTCH2NLC

Entity Detail — Knowledge Graph Node

Understanding Entity Pages

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.

40Connections

0Hypotheses

0Analyses

33Outgoing

7Incoming

0Experiments

0Debates

Summary

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.

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🧬 Gene Info

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
Pathways	NOTCH, Notch, Notch signaling, Notch pathway
UniProt ID	Q9P0M4
NCBI Gene ID	100302521
Ensembl ID	ENSG00000237289
GeneCards	NOTCH2NLC
Human Protein Atlas	NOTCH2NLC
N-terminal signal peptide	Directs protein trafficking to the cell membrane
Notch repeat (NR) domain	Specific to Notch-like proteins
Transmembrane domain	Spans the cell membrane
C-terminal intracellular domain	Contains transcriptional activation domains (although NOTCH2NLC is considered a pseudogene that may not produce a functional protein)
Associated Diseases	Essential Tremor, frontotemporal dementia, neurodegeneration, neuronal hyperexcitability, Neuronal Intranuclear Inclusion Disease
Interactions	AND, AUTOPHAGY, G3BP1, GENES, INFLAMMATION, NEURODEGENERATIVE DISEASES
KG Connections	40 knowledge graph edges
Databases	GeneCards HPA STRING

🔮 Predicted Structure: NOTCH2NLC — AlphaFold Q9P0M4 Click to expand

AI-predicted structure from AlphaFold | Powered by Mol*

Wiki Pages (1)

Knowledge base pages for this entity

Canonical Page

NOTCH2NLC Gene

gene · 1752 words

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Pathway Diagram

graph TD
    NOTCH2NLC["NOTCH2NLC"]
    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

Outgoing (33)

Target	Relation	Type	Str
Parkinson'S Disease	risk_factor_for	disease	0.95
Intranuclear Aggregation	promotes	mechanism	0.95
Neuronal Intranuclear Inclusion Disease	associated_with	disease	0.95
Essential Tremor	associated_with	disease	0.90
Mitochondrial Dysfunction	causes	process	0.90
Frontotemporal Dementia	associated_with	disease	0.90
mitochondrial dysfunction	causes	process	0.90
Parkinson's disease	risk_factor_for	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
Autophagy	inhibits	pathway	0.60
Nf-Κb	inhibits	pathway	0.60
Notch	associated_with	pathway	0.60
GENES	inhibits	gene	0.60
NEURODEGENERATIVE DISEASES	inhibits	gene	0.60
INFLAMMATION	inhibits	gene	0.60
AUTOPHAGY	inhibits	gene	0.60
NLRP3	inhibits	gene	0.60
neurodegeneration	causes	disease	0.60
AND	inhibits	gene	0.60
NPM1	activates	gene	0.60
G3BP1	activates	gene	0.60
GENES	activates	gene	0.60
Parkinson's disease	implicated_in	disease	0.60
Notch	activates	pathway	0.60
frontotemporal dementia	implicated_in	disease	0.60
neurons	expressed_in	cell_type	0.60
RNA	expressed_in	gene	0.60

Incoming (7)

Source	Relation	Type	Str
genes-notch2nlc	linked_to	wiki	1.00
NEUROTOXICITY	activates	gene	0.60
NFKBIA	inhibits	gene	0.60
GENES	activates	gene	0.60
NF-ΚB	inhibits	gene	0.60
G3BP1	activates	gene	0.60
NPM1	activates	gene	0.60

Targeting Hypotheses (0)

Hypotheses where this entity is a therapeutic target

Hypothesis	Score	Disease	Analysis
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

Experiment	Type	Disease	Score	Feasibility	Model	Status	Est. Cost
No experiments found

Related Papers (0)

Scientific publications cited in analyses involving this entity

Title & PMID	Authors	Journal	Year	Citations
No papers found

Debates (0)

Multi-agent debates referencing this entity

No debates reference this entity

Related Research

Hypotheses and analyses mentioning NOTCH2NLC in their description or question text

No additional research found