CELSR2 Chromosome 1
Cadherin EGF LAG seven-pass G-type receptor 2
Upload your DNA to see your personal genotypes for variants in CELSR2.
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
RS113925756
Conflicting classifications of pathogenicity
Health Risk
RS138135177
Conflicting classifications of pathogenicity
CELSR2-related disorder, CELSR2-related disorder
Health Risk
RS144552794
Conflicting classifications of pathogenicity
Health Risk
RS146152324
Conflicting classifications of pathogenicity
Health Risk
RS148393417
Conflicting classifications of pathogenicity
Health Risk
RS201372895
Conflicting classifications of pathogenicity
Health Risk
RS369285532
Conflicting classifications of pathogenicity
CELSR2-related disorder, CELSR2-related disorder
Health Risk
RS377543974
Conflicting classifications of pathogenicity
CELSR2-related disorder, CELSR2-related disorder
Health Risk
RS74116308
Conflicting classifications of pathogenicity
Health Risk
RS1223692503
Likely pathogenic
Esophageal atresia/tracheoesophageal fistula, Esophageal atresia/tracheoesophageal fistula
Health Risk
RS561330579
Likely pathogenic
Intellectual disability, Global developmental delay, Intellectual disability
Health Risk
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 |