CELSR2 Chromosome 1

Cadherin EGF LAG seven-pass G-type receptor 2
11 variants 11 Health Risk

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What This Gene Does
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. The specific function of this particular member has not been determined. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Adhesion G protein-coupled receptors, subfamily C|CELSR cadherins"
Locus Type
gene with protein product
Location
1p13.3
Ensembl
ENSG00000143126
Associated Conditions (4)
CELSR2-related disorder
Esophageal atresia/tracheoesophageal fistula
Intellectual disability
Global developmental delay
Key Variants
All Variants (11)
RSID Category Clinical Significance Conditions
RS113925756 Health Risk Conflicting classifications of pathogenicity
RS138135177 Health Risk Conflicting classifications of pathogenicity CELSR2-related disorder, CELSR2-related disorder
RS144552794 Health Risk Conflicting classifications of pathogenicity
RS146152324 Health Risk Conflicting classifications of pathogenicity
RS148393417 Health Risk Conflicting classifications of pathogenicity
RS201372895 Health Risk Conflicting classifications of pathogenicity
RS369285532 Health Risk Conflicting classifications of pathogenicity CELSR2-related disorder, CELSR2-related disorder
RS377543974 Health Risk Conflicting classifications of pathogenicity CELSR2-related disorder, CELSR2-related disorder
RS74116308 Health Risk Conflicting classifications of pathogenicity
RS1223692503 Health Risk Likely pathogenic Esophageal atresia/tracheoesophageal fistula, Esophageal atresia/tracheoesophageal fistula
RS561330579 Health Risk Likely pathogenic Intellectual disability, Global developmental delay, Intellectual disability
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