CELSR2 cadherin EGF LAG seven-pass G-type receptor 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CELSR2provided by HGNC
Official Full Name: cadherin EGF LAG seven-pass G-type receptor 2provided by HGNC
Primary source: HGNC:HGNC:3231
See related: Ensembl:ENSG00000143126 MIM:604265; AllianceGenome:HGNC:3231
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: EGFL2; MEGF3; ADGRC2; CDHF10; Flamingo1
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]
Expression: Biased expression in brain (RPKM 19.7), skin (RPKM 15.6) and 10 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p13.3

Exon count:: 34

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (109249539..109275751)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (109282346..109308548)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (109792161..109818373)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The adhesion GPCRs CELSR1-3 and LPHN3 engage G proteins via distinct activation mechanisms.
Title: The adhesion GPCRs CELSR1-3 and LPHN3 engage G proteins via distinct activation mechanisms.
Inactivating Celsr2 promotes motor axon fasciculation and regeneration in mouse and human.
Title: Inactivating Celsr2 promotes motor axon fasciculation and regeneration in mouse and human.
CELSR2 deficiency suppresses lipid accumulation in hepatocyte by impairing the UPR and elevating ROS level.
Title: CELSR2 deficiency suppresses lipid accumulation in hepatocyte by impairing the UPR and elevating ROS level.
rs629301 CELSR2 polymorphism confers a ten-year equivalent risk of critical stenosis assessed by coronary angiography.
Title: rs629301 CELSR2 polymorphism confers a ten-year equivalent risk of critical stenosis assessed by coronary angiography.
Identification of CELSR2 as a novel prognostic biomarker for hepatocellular carcinoma.
Title: Identification of CELSR2 as a novel prognostic biomarker for hepatocellular carcinoma.
Both CELSR2 and ING4 display increased cytoplasmic staining in breast cancer cells compared to benign epithelium, suggesting a possible role of both genes in the pathogenesis of human mammary neoplasia.
Title: Differential cellular localization of CELSR2 and ING4 and correlations with hormone receptor status in breast cancer.
findings suggest a rare variant in CELSR2 as causative for idiopathic scoliosis in a family with dominant segregation and further highlight common variation in CELSR2 in general susceptibility to idiopathic scoliosis in the Swedish-Danish population
Title: CELSR2 is a candidate susceptibility gene in idiopathic scoliosis.
we report bi-allelic mutations in CELSR2 in a Joubert patient with cortical heterotopia, microophthalmia, and growth hormone deficiency.
Title: CELSR2, encoding a planar cell polarity protein, is a putative gene in Joubert syndrome with cortical heterotopia, microophthalmia, and growth hormone deficiency.
no association was found between the SNPs of rs599839, rs464218 and rs6698843 at the CELSR2-PSRC1-SORT1 and the risk of coronary artery disease or ischemic stroke
Title: Association of variants in CELSR2-PSRC1-SORT1 with risk of serum lipid traits, coronary artery disease and ischemic stroke.
CELSR2 in the cholesterol gene cluster shows a significant association with coronary artery disease and its single nucleotide polymorphism regulates plasma cholesterol levels.
Title: CELSR2-PSRC1-SORT1 gene expression and association with coronary artery disease and plasma lipid levels in an Asian Indian cohort.

Submit: New GeneRIF Correction See all GeneRIFs (17)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Amerindian-specific regions under positive selection harbour new lipid variants in Latinos. EBI GWAS Catalog EBI GWAS CatalogPubMed
Biological, clinical and population relevance of 95 loci for blood lipids. EBI GWAS Catalog EBI GWAS CatalogPubMed
Common variants at 30 loci contribute to polygenic dyslipidemia. EBI GWAS Catalog EBI GWAS CatalogPubMed
Discovery and refinement of loci associated with lipid levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
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. EBI GWAS Catalog EBI GWAS CatalogPubMed
Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic variants influencing circulating lipid levels and risk of coronary artery disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analysis of metabolic traits in a birth cohort from a founder population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association of lipid-lowering response to statins in combined study populations. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study evaluating lipoprotein-associated phospholipase A2 mass and activity at baseline and after rosuvastatin therapy. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide screen identifies rs646776 near sortilin as a regulator of progranulin levels in human plasma. EBI GWAS Catalog EBI GWAS CatalogPubMed
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. EBI GWAS Catalog EBI GWAS CatalogPubMed
Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits. EBI GWAS Catalog EBI GWAS CatalogPubMed
LDL-cholesterol concentrations: a genome-wide association study. EBI GWAS Catalog EBI GWAS CatalogPubMed
Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. EBI GWAS Catalog EBI GWAS CatalogPubMed
Newly identified loci that influence lipid concentrations and risk of coronary artery disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH80782 (e-PCR)
- UniSTS:88582

CELSR2 (e-PCR)
- UniSTS:503845

G16013 (e-PCR)
- UniSTS:53810

SHGC-32538 (e-PCR)
- UniSTS:30533

RH78101 (e-PCR)
- UniSTS:26444

SHGC-132473 (e-PCR)
- UniSTS:173915

SHGC-57403 (e-PCR)
- UniSTS:45516

CELSR2_4552 (e-PCR)
- UniSTS:462806

Clone Names

FLJ34118, FLJ42737, FLJ45143, FLJ45845, KIAA0279

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables G protein-coupled receptor activity	NAS Non-traceable Author Statement more info	PubMed
enables calcium ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in G protein-coupled receptor signaling pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in Wnt signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in Wnt signaling pathway, planar cell polarity pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in cell-cell adhesion	IBA Inferred from Biological aspect of Ancestor more info
involved_in cerebrospinal fluid secretion	IEA Inferred from Electronic Annotation more info
involved_in cilium assembly	IEA Inferred from Electronic Annotation more info
involved_in cilium movement	IEA Inferred from Electronic Annotation more info
involved_in dendrite morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in homophilic cell adhesion via plasma membrane adhesion molecules	ISS Inferred from Sequence or Structural Similarity more info
involved_in motor neuron migration	IEA Inferred from Electronic Annotation more info
involved_in neural plate anterior/posterior regionalization	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of DNA-templated transcription	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of cell-cell adhesion	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of protein localization	IEA Inferred from Electronic Annotation more info
involved_in ventricular system development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in membrane	NAS Non-traceable Author Statement more info	PubMed
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: cadherin EGF LAG seven-pass G-type receptor 2

Names: EGF-like protein 2; EGF-like-domain, multiple 2; adhesion G protein-coupled receptor C2; cadherin family member 10; cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila); epidermal growth factor-like 2; epidermal growth factor-like protein 2; flamingo homolog 3; multiple EGF like domains 3; multiple EGF-like domains protein 3; multiple epidermal growth factor-like domains 3; multiple epidermal growth factor-like domains protein 3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_052669.1 RefSeqGene

Range

4835..31047

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001408.3 → NP_001399.1 cadherin EGF LAG seven-pass G-type receptor 2 precursor

See identical proteins and their annotated locations for NP_001399.1

Status: REVIEWED

Source sequence(s)

AF234887, AL390252

Consensus CDS

CCDS796.1

UniProtKB/Swiss-Prot

Q5T2Y7, Q92566, Q9HCU4

Related

ENSP00000271332.3, ENST00000271332.4

Conserved Domains (9) summary

smart00303
Location:2315 → 2368

GPS; G-protein-coupled receptor proteolytic site domain

cd11304
Location:404 → 501

Cadherin_repeat; Cadherin tandem repeat domain

smart00008
Location:1972 → 2034

HormR; Domain present in hormone receptors

smart00180
Location:1924 → 1969

EGF_Lam; Laminin-type epidermal growth factor-like domai

cd00054
Location:1289 → 1324

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

cd00110
Location:1369 → 1552

LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...

pfam00008
Location:1832 → 1865

EGF; EGF-like domain

pfam16489
Location:2052 → 2287

GAIN; GPCR-Autoproteolysis INducing (GAIN) domain

cl21561
Location:2402 → 2605

7tm_4; Olfactory receptor