Identity
HGNC
LOCATION
16p13.3
LOCUSID
ALIAS
C16orf35,CGTHBA,FFEVF3,HS-40,MARE,NPR3,RMD11
FUSION GENES
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: 8131
MIM: 600928
HGNC: 14124
Ensembl: ENSG00000103148
Variants:
dbSNP: 8131
ClinVar: 8131
TCGA: ENSG00000103148
COSMIC: NPRL3
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| mTOR signaling pathway | KEGG | ko04150 |
| mTOR signaling pathway | KEGG | hsa04150 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37902097 | 2024 | Phenotypic and genotypic characterization of NPRL3-related epilepsy: Two case reports and literature review. | 2 |
| 37902097 | 2024 | Phenotypic and genotypic characterization of NPRL3-related epilepsy: Two case reports and literature review. | 2 |
| 37071290 | 2023 | Functional characterization of novel NPRL3 mutations identified in three families with focal epilepsy. | 1 |
| 37099548 | 2023 | The clinical features of familial focal epilepsy with variable foci and NPRL3 gene variant. | 0 |
| 37259768 | 2023 | Seizure features and outcomes in 50 children with GATOR1 variants: A retrospective study, more favorable for epilepsy surgery. | 2 |
| 37491868 | 2023 | Refining the electroclinical spectrum of NPRL3-related epilepsy: A novel multiplex family and literature review. | 3 |
| 37071290 | 2023 | Functional characterization of novel NPRL3 mutations identified in three families with focal epilepsy. | 1 |
| 37099548 | 2023 | The clinical features of familial focal epilepsy with variable foci and NPRL3 gene variant. | 0 |
| 37259768 | 2023 | Seizure features and outcomes in 50 children with GATOR1 variants: A retrospective study, more favorable for epilepsy surgery. | 2 |
| 37491868 | 2023 | Refining the electroclinical spectrum of NPRL3-related epilepsy: A novel multiplex family and literature review. | 3 |
| 33461085 | 2021 | GATOR1-related focal cortical dysplasia in epilepsy surgery patients and their families: A possible gradient in severity? | 9 |
| 33749980 | 2021 | Hemimegalencephaly and intractable seizures associated with the NPRL3 gene variant in a newborn: A case report. | 9 |
| 33461085 | 2021 | GATOR1-related focal cortical dysplasia in epilepsy surgery patients and their families: A possible gradient in severity? | 9 |
| 33749980 | 2021 | Hemimegalencephaly and intractable seizures associated with the NPRL3 gene variant in a newborn: A case report. | 9 |
| 31898848 | 2020 | A human minisatellite hosts an alternative transcription start site for NPRL3 driving its expression in a repeat number-dependent manner. | 4 |
Citation
Dessen P
NPRL3 (NPR3 like, GATOR1 complex subunit)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/70949/nprl3-(npr3-like-gator1-complex-subunit)
