CELSR2 (cadherin EGF LAG seven-pass G-type receptor 2)

2018-12-01  

Identity

HGNC
LOCATION
1p13.3
LOCUSID
ALIAS
ADGRC2,CDHF10,EGFL2,Flamingo1,MEGF3
FUSION GENES

Other Information

Locus ID:

NCBI: 1952
MIM: 604265
HGNC: 3231
Ensembl: ENSG00000143126

Variants:

dbSNP: 1952
ClinVar: 1952
TCGA: ENSG00000143126
COSMIC: CELSR2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000143126ENST00000271332Q9HCU4

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA133950441hmg coa reductase inhibitorsChemicalClinicalAnnotationassociatedPD25350695

References

Pubmed IDYearTitleCitations
181930442008Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.575
191986092009Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants.460
181798922008Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia.190
209713642010A multilocus genetic risk score for coronary heart disease: case-control and prospective cohort analyses.181
208646722010Genetic variants influencing circulating lipid levels and risk of coronary artery disease.180
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
194875392009Large scale replication analysis of loci associated with lipid concentrations in a Japanese population.35
203709132010Genome-wide association analysis of total cholesterol and high-density lipoprotein cholesterol levels using the Framingham heart study data.35
204428572010Genome-wide association study of Lp-PLA(2) activity and mass in the Framingham Heart Study.30
200315912009Association of blood lipids with common DNA sequence variants at 19 genetic loci in the multiethnic United States National Health and Nutrition Examination Survey III.29

Citation

Dessen P

CELSR2 (cadherin EGF LAG seven-pass G-type receptor 2)

Atlas Genet Cytogenet Oncol Haematol. 2018-12-01

Online version: http://atlasgeneticsoncology.org/gene/57777/celsr2