NOTCH2NLA Gene - Notch 2 N-Terminal Like A
Complete gene guide for NOTCH2NLA: function, expression, mutations, and related diseases.
Gene Information Card
| Symbol | NOTCH2NLA |
|---|---|
| Full Name | notch 2 N-terminal like A |
| Gene Type | gene with protein product |
| Chromosomal Location | 1q21.1 |
| NCBI Gene ID | 388677 ncbi.nlm.nih.gov/gene/388677 |
| Ensembl ID | ENSG00000264343 |
| UniProt ID | Q7Z3S9 |
| OMIM ID | 618023 |
| HGNC ID | HGNC:31862 |
| Aliases | N2N, NOTCH2NL |
Description
NOTCH2NLA (notch 2 N-terminal like A) is a protein-coding gene located on chromosome 1q21.1. It is part of the NOTCH2NL gene family, which arose from partial duplications of the NOTCH2 gene. The encoded protein shares similarity with the N-terminal domain of NOTCH2 and is thought to play a role in neurodevelopment, particularly in cortical expansion. NOTCH2NLA is expressed in the brain and may be involved in regulating Notch signaling. Alterations in this gene have been associated with neurodevelopmental disorders and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorders | Copy number variations (CNVs) affecting NOTCH2NLA may disrupt cortical development, leading to intellectual disability and autism spectrum disorder. | PMID: 30038395 |
| Schizophrenia | Rare CNVs at 1q21.1 involving NOTCH2NLA have been linked to increased risk of schizophrenia. | PMID: 28135719 |
| Cancer | NOTCH2NLA expression is altered in some cancers, potentially affecting Notch signaling pathways that regulate cell proliferation and differentiation. | PMID: 28622513 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 3.2 | Low |
| Lung | 1.1 | Low |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.3 | High expression |
| HEK293 (embryonic kidney) | 2.1 | Low expression |
| HeLa (cervical cancer) | 0.8 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1Val) | Missense | 0.01% | Potential loss of protein function |
| c.100C>T (p.Arg34Trp) | Missense | 0.02% | Unknown effect |
| c.250delC (p.Leu84TrpfsTer5) | Frameshift | 0.005% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in NOTCH2NLA may impair its role in neurodevelopment, potentially contributing to intellectual disability or autism.
Gain of Function (GOF)
Gain-of-function mutations could enhance Notch signaling, leading to abnormal cell proliferation and cancer.
Dominant Negative (DN)
Dominant-negative mutations might interfere with normal NOTCH2 signaling, disrupting developmental processes.
View complete mutation data：
Gene Ontology (GO)
| • protein binding | • signaling receptor activity |
| • plasma membrane | • nucleus |
| • neurogenesis | • cell differentiation |
Pathways
• Notch signaling pathway
• Neurogenesis
Protein Summary
The NOTCH2NLA protein is a 304-amino acid protein that shares homology with the N-terminal domain of NOTCH2. It is localized to the plasma membrane and nucleus, and is involved in cell signaling and neurogenesis. The protein may modulate Notch pathway activity, influencing cell fate decisions during brain development. Its precise molecular function is still under investigation, but it is believed to play a role in cortical expansion and neuronal differentiation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NOTCH2NLA Knockout HEK293 Cell Line | EDJ-KQ14450 | Human | 388677 | Details Get a Quote |
| NOTCH2NLA Knockout A-549 Cell Line | EDJ-KQ44673 | Human | 388677 | Details Get a Quote |
| NOTCH2NLA Knockout HeLa Cell Line | EDJ-KQ44675 | Human | 388677 | Details Get a Quote |
| NOTCH2NLA Knockout HCT 116 Cell Line | EDJ-KQ43417 | Human | 388677 | Details Get a Quote |
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