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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