Format

Send to:

Choose Destination
    • Showing Current items.

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

    Gene ID: 1952, updated on 15-Jun-2019

    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
    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 Apr 4 07:08:55 2018

    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 
    cell-cell adhesion IBA
    Inferred from Biological aspect of Ancestor
    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_001408.3NP_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, ENST00000271332.4
      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

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

      Range
      109249539..109275751
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center