CELSR2 Gene

HGNC Family	Cadherins, G protein-coupled receptors
Name	cadherin, EGF LAG seven-pass G-type receptor 2
Description	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]
Summary	{"type": "root", "children": [{"type": "t", "text": "<head>\n <meta charset=\"UTF-8\">\n <title>CELSR2 Function Summary</title>\n </head>\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n CELSR2, a member of the Flamingo/CELSR family of seven‐pass transmembrane cadherins, exhibits a dual role that spans systemic lipid regulation and the establishment of planar cell polarity (PCP) during development. On one hand, genome‐wide association studies have repeatedly linked common variants in the CELSR2–PSRC1–SORT1 locus on chromosome 1p13 with altered plasma low‐density lipoprotein (LDL) cholesterol levels and increased risk for coronary artery disease and myocardial infarction ["}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "5"}]}, {"type": "t", "text": "]. In these studies, risk‐associated alleles correlate with modified hepatic expression of CELSR2, suggesting that this gene may participate, directly or indirectly, in the regulation of lipoprotein export from the liver and overall cholesterol homeostasis.\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n On the other hand, independent lines of evidence emerging from developmental and cell‐biological studies have defined CELSR2 as a core component of noncanonical Wnt/PCP signaling. Here, CELSR2 works in concert with other cadherins and PCP effectors to regulate the coordinated orientation of cells and the proper formation of structures such as ependymal cilia and neural tracts ["}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "6", "end_ref": "10"}]}, {"type": "t", "text": "]. Through its contribution to PCP signaling, CELSR2 helps govern essential processes such as tissue morphogenesis, cilia development, and neural wiring.\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n In summary, CELSR2 bridges two important biological arenas – lipid metabolism and cellular polarity – by linking altered expression in hepatocytes with dyslipidemia and cardiovascular risk, and by serving as a key organizer in PCP‐mediated developmental processes. This multifaceted role renders CELSR2 a notable candidate for further research, with potential implications for targeted therapies in both metabolic and developmental pathologies.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Sekar Kathiresan, Olle Melander, Candace Guiducci, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng.75"}], "href": "https://doi.org/10.1038/ng.75"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18193044"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18193044"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Sekar Kathiresan, Benjamin F Voight, Shaun Purcell, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng.327"}], "href": "https://doi.org/10.1038/ng.327"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19198609"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19198609"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Chris Wallace, Stephen J Newhouse, Peter Braund, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ajhg.2007.11.001"}], "href": "https://doi.org/10.1016/j.ajhg.2007.11.001"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18179892"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18179892"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Mads Kjolby, Olav M Andersen, Tilman Breiderhoff, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Sort1, encoded by the cardiovascular risk locus 1p13.3, is a regulator of hepatic lipoprotein export."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Metab (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.cmet.2010.08.006"}], "href": "https://doi.org/10.1016/j.cmet.2010.08.006"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20816088"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20816088"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Prathima Arvind, Jiny Nair, Srikarthika Jambunathan, et al. "}, {"type": "b", "children": [{"type": "t", "text": "CELSR2-PSRC1-SORT1 gene expression and association with coronary artery disease and plasma lipid levels in an Asian Indian cohort."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Cardiol (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.jjcc.2014.02.012"}], "href": "https://doi.org/10.1016/j.jjcc.2014.02.012"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24674750"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24674750"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Fadel Tissir, Yibo Qu, Mireille Montcouquiol, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Lack of cadherins Celsr2 and Celsr3 impairs ependymal ciliogenesis, leading to fatal hydrocephalus."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Neurosci (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/nn.2555"}], "href": "https://doi.org/10.1038/nn.2555"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20473291"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20473291"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Yasuyuki Shima, Neal G Copeland, Debra J Gilbert, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Differential expression of the seven-pass transmembrane cadherin genes Celsr1-3 and distribution of the Celsr2 protein during mouse development."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Dev Dyn (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/dvdy.10054"}], "href": "https://doi.org/10.1002/dvdy.10054"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "11891983"}], "href": "https://pubmed.ncbi.nlm.nih.gov/11891983"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "F Tissir, O De-Backer, A M Goffinet, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Developmental expression profiles of Celsr (Flamingo) genes in the mouse."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mech Dev (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/s0925-4773(01)00623-2"}], "href": "https://doi.org/10.1016/s0925-4773(01"}, {"type": "t", "text": "00623-2) PMID: "}, {"type": "a", "children": [{"type": "t", "text": "11850187"}], "href": "https://pubmed.ncbi.nlm.nih.gov/11850187"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Alanna Strong, Kevin Patel, Daniel J Rader "}, {"type": "b", "children": [{"type": "t", "text": "Sortilin and lipoprotein metabolism: making sense out of complexity."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Curr Opin Lipidol (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1097/MOL.0000000000000110"}], "href": "https://doi.org/10.1097/MOL.0000000000000110"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25101658"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25101658"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Masaru Katoh "}, {"type": "b", "children": [{"type": "t", "text": "WNT/PCP signaling pathway and human cancer (review)."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Oncol Rep (2005)"}]}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16273260"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16273260"}]}]}]}
Synonyms	ADGRC2, CDHF10, FLAMINGO1, MEGF3, EGFL2
Proteins	CELR2_HUMAN
NCBI Gene ID	1952
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

CELSR2 has 6,958 functional associations with biological entities spanning 9 categories (molecular profile, organism, chemical, disease, phenotype or trait, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 121 datasets.

Click the + buttons to view associations for CELSR2 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

CELSR2 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of CELSR2 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of CELSR2 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of CELSR2 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of CELSR2 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of CELSR2 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of CELSR2 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of CELSR2 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of CELSR2 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of CELSR2 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of CELSR2 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of CELSR2 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of CELSR2 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with CELSR2 protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with CELSR2 gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of CELSR2 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of CELSR2 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of CELSR2 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with CELSR2 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of CELSR2 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing CELSR2 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing CELSR2 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with CELSR2 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with CELSR2 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of CELSR2 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with CELSR2 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with CELSR2 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with CELSR2 gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with CELSR2 gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of CELSR2 protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by CELSR2 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores	diseases associated with CELSR2 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with CELSR2 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with CELSR2 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with CELSR2 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with CELSR2 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with CELSR2 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at CELSR2 gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of CELSR2 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of CELSR2 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing CELSR2 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.