1 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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5PubMed Papers
7Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cerebral cortex developmentpositive regulation of Notch signaling pathwayextracellular regionprotein bindingneuronal intranuclear inclusion diseasemicrocephalyasthmaneurodegenerative disease
Based on limited published evidence, NOTCH2NLB is a human-specific protein that promotes neural progenitor proliferation and neocortex expansion by regulating Notch signaling. It enhances apical progenitor (AP) self-renewal through two mechanisms: non-cell-autonomous interaction with NOTCH2 1 and cell-autonomous inhibition of cis DLL1-NOTCH2 interactions 2, suppressing neuronal differentiation genes. When coexpressed with NBPF14, NOTCH2NLB coordinates expansion of both AP and basal progenitor pools, essential for human neocortex evolutionary expansion 3.
1
NOTCH2NLB enhances Notch signaling non-cell-autonomously via direct NOTCH2 interaction and promotes neural progenitor self-renewal
PMID: 298569542
NOTCH2NLB promotes Notch signaling cell-autonomously by inhibiting cis DLL1-NOTCH2 interactions to delay neuronal differentiation
PMID: 298569553
NOTCH2NLB promotes apical progenitor proliferation; coordinated with NBPF14 for expansion of basal progenitors and neocortex evolution
PMID: 40138416⚠Limited data available — This gene has 3 indexed publications. Summary and analysis may be incomplete.
neuronal intranuclear inclusion diseaseOpen Targets
autism spectrum disorderOpen Targets
neurodegenerative diseaseOpen Targets
Neurodevelopmental disorderOpen Targets
schizophreniaOpen Targets
No pathogenic variants reported on ClinVar for this gene.
No tissue expression data available for this gene.