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

Gene ID: 1952, updated on 18-Sep-2018

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; Vega:OTTHUMG00000012003
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

Genomic context

See CELSR2 in Genome Data Viewer
Location:
1p13.3
Exon count:
34
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (109250019..109275756)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (109792641..109818378)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene KIAA1324 Neighboring gene seryl-tRNA synthetase Neighboring gene VISTA enhancer hs2216 Neighboring gene VISTA enhancer hs2263 Neighboring gene proline and serine rich coiled-coil 1 Neighboring gene myosin binding protein H like

Genomic regions, transcripts, and products

Expression

  • 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • Ectoderm Differentiation, organism-specific biosystem (from WikiPathways)
    Ectoderm Differentiation, organism-specific biosystemModel depicting ectoderm specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell lin...
  • GPCRs, Other, organism-specific biosystem (from WikiPathways)
    GPCRs, Other, organism-specific biosystemThis pathway was created using the GPCRDB (Horn et al., 1998), http://www.gpcr.org/7tm/ (originally at http://www.cmbi.kun.nl/7tm/). The groupings are based on the GPCR phylogenetic tree available fr...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ34118, FLJ42737, FLJ45143, FLJ45845, KIAA0279

Gene Ontology Provided by GOA

Function Evidence Code Pubs
G protein-coupled receptor activity NAS
Non-traceable Author Statement
more info
PubMed 
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
G protein-coupled receptor signaling pathway NAS
Non-traceable Author Statement
more info
PubMed 
Wnt signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
Wnt signaling pathway, planar cell polarity pathway NAS
Non-traceable Author Statement
more info
PubMed 
dendrite morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
homophilic cell adhesion via plasma membrane adhesion molecules ISS
Inferred from Sequence or Structural Similarity
more info
 
neural plate anterior/posterior regionalization ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of cell-cell adhesion ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of transcription, DNA-templated ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
integral component of membrane NAS
Non-traceable Author Statement
more info
PubMed 
plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

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 protein 3
multiple epidermal growth factor-like domains 3
multiple epidermal growth factor-like domains protein 3

NCBI Reference Sequences (RefSeq)

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

  1. NG_052669.1 RefSeqGene

    Range
    5315..31052
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001408.2NP_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
    Q9HCU4
    Related
    ENSP00000271332.3, OTTHUMP00000013794, ENST00000271332.3, OTTHUMT00000033200
    Conserved Domains (9) summary
    smart00303
    Location:23152368
    GPS; G-protein-coupled receptor proteolytic site domain
    cd11304
    Location:404501
    Cadherin_repeat; Cadherin tandem repeat domain
    smart00008
    Location:19722034
    HormR; Domain present in hormone receptors
    smart00180
    Location:19241969
    EGF_Lam; Laminin-type epidermal growth factor-like domai
    cd00054
    Location:12891324
    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:13691552
    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:18321865
    EGF; EGF-like domain
    pfam16489
    Location:20522287
    GAIN; GPCR-Autoproteolysis INducing (GAIN) domain
    cl21561
    Location:24022605
    7tm_4; Olfactory receptor

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    109250019..109275756
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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