CELSR3 Chromosome 3
Cadherin EGF LAG seven-pass G-type receptor 3
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What This Gene Does
This gene belongs to the flamingo subfamily, which is included in the cadherin superfamily. The flamingo cadherins consist of nonclassic-type cadherins that do not interact with catenins. They are plasma membrane proteins containing seven epidermal growth factor-like repeats, nine cadherin domains and two laminin A G-type repeats in their ectodomain. They also have seven transmembrane domains, a characteristic feature of their subfamily. The encoded protein may be involved in the regulation of contact-dependent neurite growth and may play a role in tumor formation. [provided by RefSeq, Jun 2013]
Gene Info
Gene Group
"Adhesion G protein-coupled receptors, subfamily C|CELSR cadherins|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
3p21.31
Ensembl
ENSG00000008300
Associated Conditions (4)
Bladder exstrophy-epispadias-cloacal extrophy complex
See cases
Congenital anomalies of kidney and urinary tract 1
Tourette syndrome
Key Variants
RS139837673
Conflicting classifications of pathogenicity
Bladder exstrophy-epispadias-cloacal extrophy complex, Bladder exstrophy-epispadias-cloacal extrophy complex
Health Risk
RS141355499
Conflicting classifications of pathogenicity
Health Risk
RS374253690
Conflicting classifications of pathogenicity
Health Risk
RS754249488
Conflicting classifications of pathogenicity
Health Risk
RS1021990044
Likely pathogenic
See cases, See cases
Health Risk
RS1221285290
Likely pathogenic
See cases, See cases
Health Risk
RS1478414043
Likely pathogenic
See cases, See cases
Health Risk
RS201106333
Likely pathogenic
Congenital anomalies of kidney and urinary tract 1, Congenital anomalies of kidney and urinary tract 1
Health Risk
RS2531574631
Likely pathogenic
See cases, See cases
Health Risk
RS369860222
Likely pathogenic
See cases, See cases
Health Risk
RS560173014
Likely pathogenic
Congenital anomalies of kidney and urinary tract 1, Congenital anomalies of kidney and urinary tract 1
Health Risk
RS756551154
Likely pathogenic
See cases, See cases
Health Risk
All Variants (19)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139837673 | Health Risk | Conflicting classifications of pathogenicity | Bladder exstrophy-epispadias-cloacal extrophy complex, Bladder exstrophy-epispadias-cloacal extrophy complex |
| RS141355499 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS374253690 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS754249488 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1021990044 | Health Risk | Likely pathogenic | See cases, See cases |
| RS1221285290 | Health Risk | Likely pathogenic | See cases, See cases |
| RS1478414043 | Health Risk | Likely pathogenic | See cases, See cases |
| RS201106333 | Health Risk | Likely pathogenic | Congenital anomalies of kidney and urinary tract 1, Congenital anomalies of kidney and urinary tract 1 |
| RS2531574631 | Health Risk | Likely pathogenic | See cases, See cases |
| RS369860222 | Health Risk | Likely pathogenic | See cases, See cases |
| RS560173014 | Health Risk | Likely pathogenic | Congenital anomalies of kidney and urinary tract 1, Congenital anomalies of kidney and urinary tract 1 |
| RS756551154 | Health Risk | Likely pathogenic | See cases, See cases |
| RS765000723 | Health Risk | Likely pathogenic | See cases, See cases |
| RS767046464 | Health Risk | Likely pathogenic | See cases, See cases |
| RS769126116 | Health Risk | Likely pathogenic | See cases, See cases |
| RS778590372 | Health Risk | Likely pathogenic | See cases, See cases |
| RS926413112 | Health Risk | Likely pathogenic | See cases, See cases |
| RS138657991 | Health Risk | Likely risk allele | Tourette syndrome, Tourette syndrome |
| RS780740673 | Health Risk | Likely risk allele | Tourette syndrome, Tourette syndrome |