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: 375298
MIM: 608381
HGNC: 21699
Ensembl: ENSG00000188452
Variants:
dbSNP: 375298
ClinVar: 375298
TCGA: ENSG00000188452
COSMIC: CERKL
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA161199368 | iloperidone | Chemical | ClinicalAnnotation | associated | PD | 18521091 | |
| PA447300 | Acquired Long QT Syndrome (aLQTS) | Disease | ClinicalAnnotation | associated | PD | 18521091 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37331655 | 2023 | CERKL-Associated Retinal Dystrophy: Genetics, Phenotype, and Natural History. | 1 |
| 37331655 | 2023 | CERKL-Associated Retinal Dystrophy: Genetics, Phenotype, and Natural History. | 1 |
| 32865075 | 2020 | CERKL mutation causing retinitis pigmentosa(RP) in Indian population - a genotype and phenotype correlation study. | 5 |
| 33322828 | 2020 | Genetic and Clinical Findings in an Ethnically Diverse Cohort with Retinitis Pigmentosa Associated with Pathogenic Variants in CERKL. | 3 |
| 32865075 | 2020 | CERKL mutation causing retinitis pigmentosa(RP) in Indian population - a genotype and phenotype correlation study. | 5 |
| 33322828 | 2020 | Genetic and Clinical Findings in an Ethnically Diverse Cohort with Retinitis Pigmentosa Associated with Pathogenic Variants in CERKL. | 3 |
| 30205735 | 2019 | CERKL regulates autophagy via the NAD-dependent deacetylase SIRT1. | 26 |
| 30205735 | 2019 | CERKL regulates autophagy via the NAD-dependent deacetylase SIRT1. | 26 |
| 29068140 | 2018 | A founder mutation in CERKL is a major cause of retinal dystrophy in Finland. | 16 |
| 29068140 | 2018 | A founder mutation in CERKL is a major cause of retinal dystrophy in Finland. | 16 |
| 24547929 | 2015 | Rod-Cone Dystrophy with Initially Preserved Visual Acuity Despite Early Macular Involvement Suggests Recessive CERKL Mutations. | 7 |
| 26296657 | 2015 | pVHL interacts with Ceramide kinase like (CERKL) protein and ubiquitinates it for oxygen dependent proteasomal degradation. | 10 |
| 24547929 | 2015 | Rod-Cone Dystrophy with Initially Preserved Visual Acuity Despite Early Macular Involvement Suggests Recessive CERKL Mutations. | 7 |
| 26296657 | 2015 | pVHL interacts with Ceramide kinase like (CERKL) protein and ubiquitinates it for oxygen dependent proteasomal degradation. | 10 |
| 24735978 | 2014 | CERKL interacts with mitochondrial TRX2 and protects retinal cells from oxidative stress-induced apoptosis. | 28 |
Citation
Dessen P
CERKL (ceramide kinase like)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/61738/cerkl-(ceramide-kinase-like)
