CERKL (ceramide kinase like)

2014-11-01  

Identity

HGNC
LOCATION
2q31.3
LOCUSID
ALIAS
RP26
FUSION GENES

Other Information

Locus ID:

NCBI: 375298
MIM: 608381
HGNC: 21699
Ensembl: ENSG00000188452

Variants:

dbSNP: 375298
ClinVar: 375298
TCGA: ENSG00000188452
COSMIC: CERKL

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000188452ENST00000339098Q49MI3
ENSG00000188452ENST00000374967Q49MI3
ENSG00000188452ENST00000374969Q49MI3
ENSG00000188452ENST00000374970Q49MI3
ENSG00000188452ENST00000409440Q49MI3
ENSG00000188452ENST00000410087Q49MI3
ENSG00000188452ENST00000421817Q49MI3
ENSG00000188452ENST00000452174Q49MI3

Expression (GTEx)

0
5
10
15
20
25
30

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA161199368iloperidoneChemicalClinicalAnnotationassociatedPD18521091
PA447300Acquired Long QT Syndrome (aLQTS)DiseaseClinicalAnnotationassociatedPD18521091

References

Pubmed IDYearTitleCitations
185198262008Molecular genetics of successful smoking cessation: convergent genome-wide association study results.130
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
185210912009Whole genome association study identifies polymorphisms associated with QT prolongation during iloperidone treatment of schizophrenia.28
205914862010Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa.22
195011882009Subcellular localization of ceramide kinase and ceramide kinase-like protein requires interplay of their Pleckstrin Homology domain-containing N-terminal regions together with C-terminal domains.20
206770142010An approach based on a genome-wide association study reveals candidate loci for narcolepsy.16
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
208015162011Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.11
247359782014CERKL interacts with mitochondrial TRX2 and protects retinal cells from oxidative stress-induced apoptosis.11

Citation

Dessen P

CERKL (ceramide kinase like)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61738/cerkl