NOTCH2NLB Gene - Notch Homolog 2 N-Terminal Like B
A primate-specific gene involved in neurogenesis and cortical development, with implications in neurodevelopmental disorders.
Gene Information Card
| Symbol | NOTCH2NLB |
|---|---|
| Full Name | Notch Homolog 2 N-Terminal Like B |
| Gene Type | Protein-coding |
| Chromosomal Location | 1q21.1 |
| NCBI Gene ID | 100996693 ncbi.nlm.nih.gov/gene/100996693 |
| Ensembl ID | ENSG00000261794 |
| UniProt ID | A6NKD9 |
| OMIM ID | 617452 |
| HGNC ID | 49485 |
| Aliases | N2NLB, NOTCH2NL, NOTCH2NLA |
Description
NOTCH2NLB (Notch Homolog 2 N-Terminal Like B) is a primate-specific gene located on chromosome 1q21.1. It encodes a protein that is structurally similar to the N-terminal domain of NOTCH2 but lacks the transmembrane and intracellular domains. NOTCH2NLB is thought to function as a ligand for Notch receptors, modulating Notch signaling during neurogenesis. It is highly expressed in neural progenitor cells and is implicated in cortical expansion and neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorders (e.g., autism spectrum disorder, intellectual disability) | Copy number variations (CNVs) at 1q21.1 involving NOTCH2NLB may alter Notch signaling, disrupting neural progenitor cell proliferation and differentiation. | ClinVar, OMIM |
| Schizophrenia | CNVs at 1q21.1 including NOTCH2NLB have been associated with increased risk, potentially through dysregulation of neurodevelopmental pathways. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | High | High |
| Brain (cerebellum) | Moderate | Medium |
| Testis | Low | Low |
| Other tissues | Not detected | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Neural progenitor cells (NPCs) | High | Key cell type for neurogenesis |
| SH-SY5Y (neuroblastoma) | Moderate | Neuronal model |
| HEK293 (embryonic kidney) | Low | Non-neuronal control |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| CNV (duplication) at 1q21.1 | Copy number gain | Rare | Increased NOTCH2NLB expression, associated with macrocephaly and autism |
| CNV (deletion) at 1q21.1 | Copy number loss | Rare | Reduced NOTCH2NLB expression, associated with microcephaly and intellectual disability |
Mutation functional classification
Loss of Function (LOF)
Deletion of NOTCH2NLB reduces Notch signaling, impairing neural progenitor cell proliferation and leading to microcephaly.
Gain of Function (GOF)
Duplication of NOTCH2NLB enhances Notch signaling, promoting excessive neural progenitor cell proliferation and macrocephaly.
Dominant Negative (DN)
Not reported for NOTCH2NLB.
View complete mutation data：
Gene Ontology (GO)
| • Notch binding (GO:0005112) | • Notch signaling pathway (GO:0007219) |
| • positive regulation of cell population proliferation (GO:0008284) | • nervous system development (GO:0007399) |
Pathways
• Notch signaling pathway (KEGG: hsa04330)
• Developmental biology (Reactome: R-HSA-1266738)
Protein Summary
The NOTCH2NLB protein is a secreted or membrane-associated ligand that binds to Notch receptors (e.g., NOTCH1, NOTCH2). It lacks the intracellular domain required for canonical signaling but can modulate Notch activity by competing with canonical ligands (e.g., DLL1, JAG1). In neural progenitor cells, NOTCH2NLB promotes self-renewal and inhibits differentiation, contributing to cortical expansion. Its expression is primate-specific and enriched in the developing brain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NOTCH2NLB Knockout HEK293 Cell Line | EDJ-KQ14451 | Human | 100996763 | Details Get a Quote |
| NOTCH2NLB Knockout A-549 Cell Line | EDJ-KQ44676 | Human | 100996763 | Details Get a Quote |
| NOTCH2NLB Knockout HCT 116 Cell Line | EDJ-KQ44677 | Human | 100996763 | Details Get a Quote |
| NOTCH2NLB Knockout HeLa Cell Line | EDJ-KQ44678 | Human | 100996763 | Details Get a Quote |
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