NOTCH2NLR Gene - Function, Disease Associations, and Expression
Comprehensive resource for NOTCH2NLR (notch 2 N-terminal like R) including genomic data, expression, and disease links.
Gene Information Card
| Symbol | NOTCH2NLR |
|---|---|
| Full Name | notch 2 N-terminal like R |
| Gene Type | gene with protein product |
| Chromosomal Location | 1p11.2 |
| NCBI Gene ID | 101929796 ncbi.nlm.nih.gov/gene/101929796 |
| Ensembl ID | ENSG00000286106 |
| UniProt ID | A0A096LNW5 |
| OMIM ID | 618026 |
| HGNC ID | HGNC:53925 |
| Aliases | Not available |
Description
NOTCH2NLR (notch 2 N-terminal like R) is a protein-coding gene located on chromosome 1p11.2. It is part of the NOTCH2NLR gene family, which arose from partial duplication of the NOTCH2 gene. The gene is expressed in several tissues and may play a role in neurodevelopment, though its exact function remains under investigation. Mutations and copy number variations in this gene have been associated with neurodevelopmental disorders, including autism and intellectual disability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder | Copy number variations and point mutations may disrupt gene function, affecting neuronal development. | ClinVar, literature |
| Autism spectrum disorder | Duplications or deletions of the 1p11.2 region including NOTCH2NLR have been reported in ASD cases. | ClinVar, literature |
| Intellectual disability | Loss-of-function mutations or CNVs may contribute to cognitive impairment. | ClinVar, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | Medium |
| Testis | 5.6 | Low |
| Lung | 3.2 | Low |
| Kidney | 2.1 | Low |
| Liver | 1.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 8.5 | Neuroblastoma cell line |
| HeLa | 2.3 | Cervical carcinoma |
| A549 | 1.8 | Lung carcinoma |
| HEK293 | 1.2 | Embryonic kidney |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234A>G (p.Lys412Glu) | Missense | 0.01% | Unknown |
| c.567_568del (p.Gln189HisfsTer5) | Frameshift | Rare | Likely loss of function |
| c.890C>T (p.Thr297Met) | Missense | 0.02% | Unknown |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations are predicted to result in loss of function via nonsense-mediated decay or truncated protein.
Gain of Function (GOF)
No evidence for gain-of-function mutations currently.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • protein binding | • Notch signaling pathway |
| • nucleus | • cytoplasm |
Pathways
• Notch signaling pathway
Protein Summary
The NOTCH2NLR protein is a 304-amino acid protein that shares homology with the N-terminal domain of NOTCH2. It is predicted to localize to the nucleus and cytoplasm and may interact with other proteins involved in Notch signaling. Its exact function is not fully characterized, but it is thought to play a role in neurodevelopment.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NOTCH2NLR Knockout HEK293 Cell Line | EDJ-KQ14453 | Human | 101929796 | Details Get a Quote |
| NOTCH2NLR Knockout HCT 116 Cell Line | EDJ-KQ44683 | Human | 101929796 | Details Get a Quote |
| NOTCH2NLR Knockout HeLa Cell Line | EDJ-KQ44684 | Human | 101929796 | Details Get a Quote |
| NOTCH2NLR Knockout A-549 Cell Line | EDJ-KQ43425 | Human | 101929796 | Details Get a Quote |
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