CELSR1 (cadherin EGF LAG seven-pass G-type receptor 1)

2014-08-01  

Identity

HGNC
LOCATION
22q13.31
LOCUSID
ALIAS
ADGRC1,CDHF9,FMI2,HFMI2,LMPHM9,ME2
FUSION GENES

Other Information

Locus ID:

NCBI: 9620
MIM: 604523
HGNC: 1850
Ensembl: ENSG00000075275

Variants:

dbSNP: 9620
ClinVar: 9620
TCGA: ENSG00000075275
COSMIC: CELSR1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000075275ENST00000262738Q9NYQ6
ENSG00000075275ENST00000454637H0Y7R9

Expression (GTEx)

0
5
10
15
20
25

References

Pubmed IDYearTitleCitations
202237542010The PCP genes Celsr1 and Vangl2 are required for normal lung branching morphogenesis.62
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
220955312012Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis.52
237921462013Planar cell polarity protein Celsr1 regulates endothelial adherens junctions and directed cell rearrangements during valve morphogenesis.46
194031352009Identification of CELSR1 as a susceptibility gene for ischemic stroke in Japanese individuals by a genome-wide association study.36
194031352009Identification of CELSR1 as a susceptibility gene for ischemic stroke in Japanese individuals by a genome-wide association study.36
223713542012Role of the planar cell polarity gene CELSR1 in neural tube defects and caudal agenesis.32
246327392014Identification of novel CELSR1 mutations in spina bifida.23
278545072017Sex-Based Genetic Association Study Identifies CELSR1 as a Possible Chronic Obstructive Pulmonary Disease Risk Locus among Women.12
201983152010Association of genetic variants with hemorrhagic stroke in Japanese individuals.11

Citation

Dessen P

CELSR1 (cadherin EGF LAG seven-pass G-type receptor 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54208/celsr1