Gene: CELSR1

Alternate names for this Gene: ADGRC1|CDHF9|FMI2|HFMI2|ME2

Gene Summary: The protein encoded by this gene is a member of the flamingo subfamily, part of the cadherin superfamily. The flamingo subfamily consists of nonclassic-type cadherins; a subpopulation that does not interact with catenins. The flamingo cadherins are located at the plasma membrane and have nine cadherin domains, seven epidermal growth factor-like repeats and two laminin A G-type repeats in their ectodomain. They also have seven transmembrane domains, a characteristic unique to this subfamily. It is postulated that these proteins are receptors involved in contact-mediated communication, with cadherin domains acting as homophilic binding regions and the EGF-like domains involved in cell adhesion and receptor-ligand interactions. This particular member is a developmentally regulated, neural-specific gene which plays an unspecified role in early embryogenesis.

Gene is located in Chromosome: 22

Location in Chromosome : 22q13.31

Description of this Gene: cadherin EGF LAG seven-pass G-type receptor 1

Type of Gene: protein-coding

rs71313049 in CELSR1 gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 28736931 2018 Genetic Variants in HSD17B3, SMAD3, and IPO11 Impact Circulating Lipids in Response to Fenofibrate in Individuals With Type 2 Diabetes.

rs150109621 in CELSR1 gene and Heart failure PMID 31113495 2019 Genetics of heart rate in heart failure patients (GenHRate).

rs6008813 in CELSR1 gene and Malignant neoplasm of prostate PMID 24185611 2014 A genome-wide association study of prostate cancer in West African men.

rs12170597 in CELSR1 gene and NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO PMID 22095531 2012 Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis.

rs150109621 in CELSR1 gene and Reduced ejection fraction PMID 31113495 2019 Genetics of heart rate in heart failure patients (GenHRate).

rs150109621 in CELSR1 gene and heart rate PMID 31113495 2019 Genetics of heart rate in heart failure patients (GenHRate).