Identity
HGNC
LOCATION
14q11.2
LOCUSID
ALIAS
D14S46E,NRL-MAF,RP27
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: 4901
MIM: 162080
HGNC: 8002
Ensembl: ENSG00000129535
Variants:
dbSNP: 4901
ClinVar: 4901
TCGA: ENSG00000129535
COSMIC: NRL
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA283 | MAPK8 | Gene | Pathway | associated | 23922006 | ||
| PA30621 | MAPK14 | Gene | Pathway | associated | 23922006 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35693422 | 2022 | Novel homozygous mutations in the transcription factor NRL cause non-syndromic retinitis pigmentosa. | 3 |
| 35693422 | 2022 | Novel homozygous mutations in the transcription factor NRL cause non-syndromic retinitis pigmentosa. | 3 |
| 33400844 | 2021 | NRL(-/-) gene edited human embryonic stem cells generate rod-deficient retinal organoids enriched in S-cone-like photoreceptors. | 15 |
| 33400844 | 2021 | NRL(-/-) gene edited human embryonic stem cells generate rod-deficient retinal organoids enriched in S-cone-like photoreceptors. | 15 |
| 32081919 | 2020 | Investigating cone photoreceptor development using patient-derived NRL null retinal organoids. | 41 |
| 32081919 | 2020 | Investigating cone photoreceptor development using patient-derived NRL null retinal organoids. | 41 |
| 29533784 | 2018 | NRL and CRX Define Photoreceptor Identity and Reveal Subgroup-Specific Dependencies in Medulloblastoma. | 36 |
| 29533784 | 2018 | NRL and CRX Define Photoreceptor Identity and Reveal Subgroup-Specific Dependencies in Medulloblastoma. | 36 |
| 28106895 | 2017 | Identification of a novel NRL mutation in a Chinese family with retinitis pigmentosa by whole-exome sequencing. | 4 |
| 28590779 | 2017 | Oculopharyngeal Muscular Dystrophy and Inherited Retinal Dystrophy in Bukhara Jews Due to Linked Mutations in the PABPN1 and NRL Genes. | 0 |
| 28106895 | 2017 | Identification of a novel NRL mutation in a Chinese family with retinitis pigmentosa by whole-exome sequencing. | 4 |
| 28590779 | 2017 | Oculopharyngeal Muscular Dystrophy and Inherited Retinal Dystrophy in Bukhara Jews Due to Linked Mutations in the PABPN1 and NRL Genes. | 0 |
| 27081294 | 2016 | Whole exome sequencing identifies a novel NRL mutation in a Chinese family with autosomal dominant retinitis pigmentosa. | 8 |
| 27732723 | 2016 | Homozygosity for a Recessive Loss-of-Function Mutation of the NRL Gene Is Associated With a Variant of Enhanced S-Cone Syndrome. | 15 |
| 27081294 | 2016 | Whole exome sequencing identifies a novel NRL mutation in a Chinese family with autosomal dominant retinitis pigmentosa. | 8 |
Citation
Dessen P
NRL (neural retina leucine zipper)
Atlas Genet Cytogenet Oncol Haematol. 2019-04-01
Online version: http://atlasgeneticsoncology.org/gene/57947/nrl-(neural-retina-leucine-zipper)
