CDKAL1 (CDK5 regulatory subunit associated protein 1 like 1)

2014-08-01  

Identity

HGNC
LOCATION
6p22.3
LOCUSID
ALIAS
-
FUSION GENES

Other Information

Locus ID:

NCBI: 54901
MIM: 611259
HGNC: 21050
Ensembl: ENSG00000145996

Variants:

dbSNP: 54901
ClinVar: 54901
TCGA: ENSG00000145996
COSMIC: CDKAL1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000145996ENST00000274695Q5VV42
ENSG00000145996ENST00000378610Q5VV42
ENSG00000145996ENST00000613575Q5VV42

Expression (GTEx)

0
5
10
15

Pathways

PathwaySourceExternal ID
Gene ExpressionREACTOMER-HSA-74160
tRNA processingREACTOMER-HSA-72306
tRNA modification in the nucleus and cytosolREACTOMER-HSA-6782315

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA164712689Dipeptidyl peptidase 4 (DPP-4) inhibitorsChemicalClinicalAnnotationassociatedPD
PA164713366Tumor necrosis factor alpha (TNF-alpha) inhibitorsChemicalClinicalAnnotationassociatedPD27670765
PA443886Diabetes MellitusDiseaseClinicalAnnotation, MultilinkAnnotationassociatedPD27139004
PA445451PsoriasisDiseaseClinicalAnnotationassociatedPD27670765

References

Pubmed IDYearTitleCitations
174632462007Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels.1137
174632482007A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants.1102
185873942008Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.951
174632492007Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes.887
174606972007A variant in CDKAL1 influences insulin response and risk of type 2 diabetes.369
174606972007A variant in CDKAL1 influences insulin response and risk of type 2 diabetes.369
190203232008Genotype score in addition to common risk factors for prediction of type 2 diabetes.304
190203242008Clinical risk factors, DNA variants, and the development of type 2 diabetes.262
197349002009Genetic variant near IRS1 is associated with type 2 diabetes, insulin resistance and hyperinsulinemia.167
185913882008Assessing the combined impact of 18 common genetic variants of modest effect sizes on type 2 diabetes risk.129

Citation

Dessen P

CDKAL1 (CDK5 regulatory subunit associated protein 1 like 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54207/cdkal1