Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 100996717
MIM: 618025
HGNC: 53924
Ensembl: ENSG00000286219
Variants:
dbSNP: 100996717
ClinVar: 100996717
TCGA: ENSG00000286219
COSMIC: NOTCH2NLC
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000286219 | ENST00000578189 | P0DPK4 |
| ENSG00000286219 | ENST00000650865 | A0A494C1K9 |
| ENSG00000286219 | ENST00000652191 | P0DPK4 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37975799 | 2024 | GGC expansions in NOTCH2NLC contribute to Parkinson disease and dopaminergic neuron degeneration. | 1 |
| 38667292 | 2024 | Investigating Repeat Expansions in NIPA1, NOP56, and NOTCH2NLC Genes: A Closer Look at Amyotrophic Lateral Sclerosis Patients from Southern Italy. | 0 |
| 37975799 | 2024 | GGC expansions in NOTCH2NLC contribute to Parkinson disease and dopaminergic neuron degeneration. | 1 |
| 38667292 | 2024 | Investigating Repeat Expansions in NIPA1, NOP56, and NOTCH2NLC Genes: A Closer Look at Amyotrophic Lateral Sclerosis Patients from Southern Italy. | 0 |
| 36942588 | 2023 | NOTCH2NLC GGC Repeat Expansion in Patients With Vascular Leukoencephalopathy. | 1 |
| 36948577 | 2023 | Clinical phenotypic diversity of NOTCH2NLC-related disease in the largest case series of inherited peripheral neuropathy in Japan. | 1 |
| 37237429 | 2023 | Genetic spectrum and clinical features of adult leukoencephalopathies in a Chinese cohort. | 1 |
| 36942588 | 2023 | NOTCH2NLC GGC Repeat Expansion in Patients With Vascular Leukoencephalopathy. | 1 |
| 36948577 | 2023 | Clinical phenotypic diversity of NOTCH2NLC-related disease in the largest case series of inherited peripheral neuropathy in Japan. | 1 |
| 37237429 | 2023 | Genetic spectrum and clinical features of adult leukoencephalopathies in a Chinese cohort. | 1 |
| 34675106 | 2022 | GGC Repeat Expansion of NOTCH2NLC in Taiwanese Patients With Inherited Neuropathies. | 10 |
| 34675123 | 2022 | NOTCH2NLC-related disorders: the widening spectrum and genotype-phenotype correlation. | 9 |
| 35866887 | 2022 | Profiling the NOTCH2NLC GGC Repeat Expansion in Parkinson's Disease in the European Population. | 2 |
| 35974122 | 2022 | Muscle and skin fibroblast TDP-43 expression, dynamic mutation analysis of NOTCH2NLC and C9orf72 in patients with FOSMN. | 1 |
| 34675106 | 2022 | GGC Repeat Expansion of NOTCH2NLC in Taiwanese Patients With Inherited Neuropathies. | 10 |
Citation
Dessen P
NOTCH2NLC (notch 2 N-terminal like C)
Atlas Genet Cytogenet Oncol Haematol. 2018-11-01
Online version: http://atlasgeneticsoncology.org/gene/80366/notch2nlc-(notch-2-n-terminal-like-c)
