CELSR1 Chromosome 22
Cadherin EGF LAG seven-pass G-type receptor 1
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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. This particular member is a developmentally regulated, neural-specific gene which plays an unspecified role in early embryogenesis. [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
22q13.31
Ensembl
ENSG00000075275
Associated Conditions (9)
CELSR1-associated congenital heartdefects
CELSR1-related disorder
Mild to moderate NDD
Walker-Warburg congenital muscular dystrophy
Severe NDD
Lymphatic malformation
Lymphatic malformation 9
Neural tube defects
susceptibility to
Key Variants
RS1017161806
Conflicting classifications of pathogenicity
CELSR1-associated congenital heartdefects, CELSR1-associated congenital heartdefects
Health Risk
RS142438731
Conflicting classifications of pathogenicity
CELSR1-related disorder, CELSR1-related disorder
Health Risk
RS148451995
Conflicting classifications of pathogenicity
Health Risk
RS199661483
Conflicting classifications of pathogenicity
Health Risk
RS200072284
Conflicting classifications of pathogenicity
Health Risk
RS200795497
Conflicting classifications of pathogenicity
Health Risk
RS2147447737
Conflicting classifications of pathogenicity
Mild to moderate NDD, Mild to moderate NDD
Health Risk
RS374242625
Conflicting classifications of pathogenicity
Health Risk
RS746784282
Conflicting classifications of pathogenicity
Mild to moderate NDD, Mild to moderate NDD
Health Risk
RS748635750
Conflicting classifications of pathogenicity
Health Risk
RS779099521
Conflicting classifications of pathogenicity
Health Risk
RS931374138
Conflicting classifications of pathogenicity
Walker-Warburg congenital muscular dystrophy, Severe NDD, Walker-Warburg congenital muscular dystrophy
Health Risk
All Variants (23)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1017161806 | Health Risk | Conflicting classifications of pathogenicity | CELSR1-associated congenital heartdefects, CELSR1-associated congenital heartdefects |
| RS142438731 | Health Risk | Conflicting classifications of pathogenicity | CELSR1-related disorder, CELSR1-related disorder |
| RS148451995 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS199661483 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200072284 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200795497 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2147447737 | Health Risk | Conflicting classifications of pathogenicity | Mild to moderate NDD, Mild to moderate NDD |
| RS374242625 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS746784282 | Health Risk | Conflicting classifications of pathogenicity | Mild to moderate NDD, Mild to moderate NDD |
| RS748635750 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS779099521 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS931374138 | Health Risk | Conflicting classifications of pathogenicity | Walker-Warburg congenital muscular dystrophy, Severe NDD, Walker-Warburg congenital muscular dystrophy |
| RS969947703 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1569133268 | Health Risk | Likely pathogenic | Lymphatic malformation, Lymphatic malformation |
| RS1569226110 | Health Risk | Likely pathogenic | Lymphatic malformation, Lymphatic malformation |
| RS1569227576 | Health Risk | Likely pathogenic | Lymphatic malformation 9, Lymphatic malformation, Lymphatic malformation 9 |
| RS754833774 | Health Risk | Likely pathogenic | Lymphatic malformation 9, Lymphatic malformation 9 |
| RS1569124017 | Health Risk | Pathogenic | Lymphatic malformation 9, Lymphatic malformation, Lymphatic malformation 9 |
| RS1569141899 | Health Risk | Pathogenic | Lymphatic malformation 9, Lymphatic malformation, Lymphatic malformation 9 |
| RS2147265140 | Health Risk | Pathogenic | Lymphatic malformation 9, Lymphatic malformation 9 |
| RS2147324428 | Health Risk | Pathogenic | Lymphatic malformation 9, Lymphatic malformation 9 |
| RS786201015 | Health Risk | risk factor | Neural tube defects, susceptibility to, Neural tube defects |
| RS786201016 | Health Risk | risk factor | Neural tube defects, susceptibility to, Neural tube defects |