CELSR2 cadherin EGF LAG seven-pass G-type receptor 2
Gene ID: 1952, updated on 8-Sep-2024Gene type: protein coding
Also known as: EGFL2; MEGF3; ADGRC2; CDHF10; Flamingo1
- See all available tests in GTR for this gene
- Go to complete Gene record for CELSR2
- Go to Variation Viewer for CELSR2 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease. GeneReviews: Not available | |
| Amerindian-specific regions under positive selection harbour new lipid variants in Latinos. GeneReviews: Not available | |
| Biological, clinical and population relevance of 95 loci for blood lipids. GeneReviews: Not available | |
| Common variants at 30 loci contribute to polygenic dyslipidemia. GeneReviews: Not available | |
| Discovery and refinement of loci associated with lipid levels. GeneReviews: Not available | |
| Eight genetic loci associated with variation in lipoprotein-associated phospholipase A2 mass and activity and coronary heart disease: meta-analysis of genome-wide association studies from five community-based studies. GeneReviews: Not available | |
| Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis. GeneReviews: Not available | |
| Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits. GeneReviews: Not available | |
| Genetic variants influencing circulating lipid levels and risk of coronary artery disease. GeneReviews: Not available | |
| Genome-wide association analysis of metabolic traits in a birth cohort from a founder population. GeneReviews: Not available | |
| Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. GeneReviews: Not available | |
| Genome-wide association of lipid-lowering response to statins in combined study populations. GeneReviews: Not available | |
| Genome-wide association study evaluating lipoprotein-associated phospholipase A2 mass and activity at baseline and after rosuvastatin therapy. GeneReviews: Not available | |
| Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia. GeneReviews: Not available | |
| Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project. GeneReviews: Not available | |
| Genome-wide screen identifies rs646776 near sortilin as a regulator of progranulin levels in human plasma. GeneReviews: Not available | |
| Identification of ADAMTS7 as a novel locus for coronary atherosclerosis and association of ABO with myocardial infarction in the presence of coronary atherosclerosis: two genome-wide association studies. GeneReviews: Not available | |
| Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits. GeneReviews: Not available | |
| LDL-cholesterol concentrations: a genome-wide association study. GeneReviews: Not available | |
| Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. GeneReviews: Not available | |
| Newly identified loci that influence lipid concentrations and risk of coronary artery disease. GeneReviews: Not available | |
| Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans. GeneReviews: Not available |
Genomic context
- Location:
- 1p13.3
- Sequence:
- Chromosome: 1; NC_000001.11 (109249539..109275751)
- Total number of exons:
- 34
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CELSR2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.