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Aliases for CELSR2 Gene

Aliases for CELSR2 Gene

  • Cadherin, EGF LAG Seven-Pass G-Type Receptor 2 2 3
  • EGFL2 3 4 6
  • MEGF3 3 4 6
  • Multiple Epidermal Growth Factor-Like Domains Protein 3 3 4
  • Adhesion G Protein-Coupled Receptor C2 2 3
  • Epidermal Growth Factor-Like Protein 2 3 4
  • Multiple EGF-Like Domains Protein 3 3 4
  • Cadherin Family Member 10 3 4
  • Flamingo Homolog 3 3 4
  • EGF-Like Protein 2 3 4
  • CDHF10 3 4
  • Cadherin, EGF LAG Seven-Pass G-Type Receptor 2, Flamingo (Drosophila) Homolog 2
  • Cadherin, EGF LAG Seven-Pass G-Type Receptor 2 (Flamingo Homolog, Drosophila) 3
  • Multiple Epidermal Growth Factor-Like Domains 3 3
  • Cadherin EGF LAG Seven-Pass G-Type Receptor 2 3
  • Epidermal Growth Factor-Like 2 3
  • EGF-Like-Domain, Multiple 2 3
  • Flamingo1 3
  • KIAA0279 4
  • ADGRC2 3

External Ids for CELSR2 Gene

Previous HGNC Symbols for CELSR2 Gene

  • EGFL2

Previous GeneCards Identifiers for CELSR2 Gene

  • GC01P110271
  • GC01P108722
  • GC01P108894
  • GC01P109092
  • GC01P109093
  • GC01P109504
  • GC01P109594
  • GC01P109792
  • GC01P107685

Summaries for CELSR2 Gene

Entrez Gene Summary for CELSR2 Gene

  • 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]

GeneCards Summary for CELSR2 Gene

CELSR2 (Cadherin, EGF LAG Seven-Pass G-Type Receptor 2) is a Protein Coding gene. Diseases associated with CELSR2 include protein s deficiency. Among its related pathways are GPCRs, Other. GO annotations related to this gene include calcium ion binding and G-protein coupled receptor activity. An important paralog of this gene is FAT4.

UniProtKB/Swiss-Prot for CELSR2 Gene

  • Receptor that may have an important role in cell/cell signaling during nervous system formation

Gene Wiki entry for CELSR2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CELSR2 Gene

Genomics for CELSR2 Gene

Regulatory Elements for CELSR2 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for CELSR2 Gene

Start:
109,250,019 bp from pter
End:
109,275,756 bp from pter
Size:
25,738 bases
Orientation:
Plus strand

Genomic View for CELSR2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CELSR2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CELSR2 Gene

Proteins for CELSR2 Gene

  • Protein details for CELSR2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HCU4-CELR2_HUMAN
    Recommended name:
    Cadherin EGF LAG seven-pass G-type receptor 2
    Protein Accession:
    Q9HCU4
    Secondary Accessions:
    • Q5T2Y7
    • Q92566

    Protein attributes for CELSR2 Gene

    Size:
    2923 amino acids
    Molecular mass:
    317453 Da
    Quaternary structure:
    No Data Available

neXtProt entry for CELSR2 Gene

Proteomics data for CELSR2 Gene at MOPED

Post-translational modifications for CELSR2 Gene

  • The iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF domains.
  • Glycosylation at Asn486, Asn557, Asn701, Asn1036, Asn1076, Asn1182, Asn1212, Asn1501, Asn1565, Asn1741, Asn1827, Asn1900, Asn2024, Asn2043, Asn2061, Asn2323, and Asn2345
  • Modification sites at PhosphoSitePlus

Other Protein References for CELSR2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CELSR2 Gene

Domains for CELSR2 Gene

Gene Families for CELSR2 Gene

HGNC:
  • MCDH :Cadherins / Major cadherins
  • GPCRBO :GPCR / Class B : Orphans
IUPHAR :

Suggested Antigen Peptide Sequences for CELSR2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9HCU4

UniProtKB/Swiss-Prot:

CELR2_HUMAN :
  • Q9HCU4
Domain:
  • Contains 9 cadherin domains.
  • Contains 7 EGF-like domains.
  • Contains 1 GPS domain.
  • Contains 1 laminin EGF-like domain.
  • Contains 2 laminin G-like domains.
Family:
  • Belongs to the G-protein coupled receptor 2 family. LN-TM7 subfamily.
genes like me logo Genes that share domains with CELSR2: view

Function for CELSR2 Gene

Molecular function for CELSR2 Gene

UniProtKB/Swiss-Prot Function: Receptor that may have an important role in cell/cell signaling during nervous system formation

Gene Ontology (GO) - Molecular Function for CELSR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004888 transmembrane signaling receptor activity --
GO:0004930 G-protein coupled receptor activity NAS 10907856
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with CELSR2: view

Phenotypes for CELSR2 Gene

genes like me logo Genes that share phenotypes with CELSR2: view

Animal Models for CELSR2 Gene

MGI Knock Outs for CELSR2:

Animal Model Products

CRISPR Products

miRNA for CELSR2 Gene

miRTarBase miRNAs that target CELSR2

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CELSR2

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for CELSR2 Gene

Localization for CELSR2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CELSR2 Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CELSR2 Gene COMPARTMENTS Subcellular localization image for CELSR2 gene
Compartment Confidence
plasma membrane 5
cytosol 1
extracellular 1

Gene Ontology (GO) - Cellular Components for CELSR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm ISS --
GO:0005886 plasma membrane ISS --
GO:0016020 membrane --
GO:0016021 integral component of membrane NAS 10907856
genes like me logo Genes that share ontologies with CELSR2: view

Pathways for CELSR2 Gene

SuperPathways for CELSR2 Gene

Superpath Contained pathways
1 GPCRs, Other
genes like me logo Genes that share pathways with CELSR2: view

Pathways by source for CELSR2 Gene

1 BioSystems pathway for CELSR2 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for CELSR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001764 neuron migration IEA --
GO:0003341 cilium movement IEA --
GO:0006355 regulation of transcription, DNA-templated ISS --
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules ISS --
GO:0007166 cell surface receptor signaling pathway --
genes like me logo Genes that share ontologies with CELSR2: view

Transcripts for CELSR2 Gene

mRNA/cDNA for CELSR2 Gene

Unigene Clusters for CELSR2 Gene

Cadherin, EGF LAG seven-pass G-type receptor 2:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CELSR2

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for CELSR2

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CELSR2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11a · 11b · 11c ^ 12a · 12b · 12c ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^
SP1:
SP2:
SP3:
SP4:
SP5: - - - - - - -
SP6:
SP7: -
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16: - -
SP17:
SP18:
SP19:
SP20:
SP21:
SP22:
SP23:

ExUns: 18 ^ 19a · 19b ^ 20a · 20b ^ 21a · 21b ^ 22a · 22b ^ 23a · 23b ^ 24 ^ 25a · 25b ^ 26 ^ 27a · 27b ^ 28 ^ 29a · 29b · 29c ^ 30a · 30b ^ 31a · 31b ^ 32a ·
SP1:
SP2: -
SP3:
SP4:
SP5: - - - - - - - - - - - - - - - - - - - - - - - - - -
SP6: -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12: - -
SP13: - -
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:
SP22:
SP23:

ExUns: 32b · 32c ^ 33a · 33b ^ 34 ^ 35a · 35b ^ 36 ^ 37 ^ 38 ^ 39 ^ 40 ^ 41a · 41b · 41c
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18: -
SP19:
SP20:
SP21:
SP22:
SP23:

Relevant External Links for CELSR2 Gene

GeneLoc Exon Structure for
CELSR2
ECgene alternative splicing isoforms for
CELSR2

Expression for CELSR2 Gene

mRNA expression in normal human tissues for CELSR2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for CELSR2 Gene

SOURCE GeneReport for Unigene cluster for CELSR2 Gene Hs.57652

mRNA Expression by UniProt/SwissProt for CELSR2 Gene

Q9HCU4-CELR2_HUMAN
Tissue specificity: Highest expression in brain and testis
genes like me logo Genes that share expressions with CELSR2: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for CELSR2 Gene

Orthologs for CELSR2 Gene

This gene was present in the common ancestor of animals.

Orthologs for CELSR2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CELSR2 35
  • 99.04 (n)
  • 98.74 (a)
CELSR2 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CELSR2 35
  • 90.87 (n)
  • 96.37 (a)
CELSR2 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CELSR2 35
  • 91.19 (n)
  • 96.99 (a)
CELSR2 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Celsr2 35
  • 88.11 (n)
  • 95.9 (a)
Celsr2 16
Celsr2 36
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CELSR2 36
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 82 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Celsr2 35
  • 88.32 (n)
  • 96.3 (a)
chicken
(Gallus gallus)
Aves CELSR2 36
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CELSR2 36
  • 76 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.13998 35
tropical clawed frog
(Silurana tropicalis)
Amphibia celsr2 35
  • 62.03 (n)
  • 63.64 (a)
zebrafish
(Danio rerio)
Actinopterygii celsr2 36
  • 58 (a)
OneToMany
CELSR2 (2 of 2) 36
  • 73 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta stan 36
  • 31 (a)
OneToMany
shg 37
  • 25 (a)
stan 37
  • 40 (a)
Cad89D 37
  • 26 (a)
CadN2 37
  • 25 (a)
worm
(Caenorhabditis elegans)
Secernentea fmi-1 36
  • 28 (a)
OneToMany
Species with no ortholog for CELSR2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CELSR2 Gene

ENSEMBL:
Gene Tree for CELSR2 (if available)
TreeFam:
Gene Tree for CELSR2 (if available)

Paralogs for CELSR2 Gene

Paralogs for CELSR2 Gene

Selected SIMAP similar genes for CELSR2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with CELSR2: view

Variants for CELSR2 Gene

Sequence variations from dbSNP and Humsavar for CELSR2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs379640 -- 109,248,521(-) Atgcc(C/T)gggcc upstream-variant-2KB
rs413380 -- 109,252,404(+) GACTA(C/T)GAAGA synonymous-codon, reference
rs422442 -- 109,248,538(-) TGCCC(G/T)GGCCT upstream-variant-2KB
rs434524 -- 109,248,934(-) ACACT(A/G)TCACC upstream-variant-2KB
rs437444 -- 109,252,986(-) AGCTG(A/G)AAGAC synonymous-codon, reference

Structural Variations from Database of Genomic Variants (DGV) for CELSR2 Gene

Variant ID Type Subtype PubMed ID
nsv470732 CNV Loss 18288195
nsv517354 CNV Loss 19592680
dgv328n71 CNV Loss 21882294
esv993086 CNV Deletion 20482838
nsv872140 CNV Loss 21882294

Relevant External Links for CELSR2 Gene

HapMap Linkage Disequilibrium report
CELSR2
Human Gene Mutation Database (HGMD)
CELSR2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CELSR2 Gene

Disorders for CELSR2 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for CELSR2 Gene including...

Search for CELSR2 Gene in MalaCards »

Relevant External Links for CELSR2

Genetic Association Database (GAD)
CELSR2
Human Genome Epidemiology (HuGE) Navigator
CELSR2
genes like me logo Genes that share disorders with CELSR2: view

No data available for UniProtKB/Swiss-Prot for CELSR2 Gene

Publications for CELSR2 Gene

  1. The human homologue of flamingo, EGFL2, encodes a brain-expressed large cadherin-like protein with epidermal growth factor-like domains, and maps to chromosome 1p13.3-p21.1. (PMID: 10907856) Vincent J.B. … Scherer S.W. (DNA Res. 2000) 2 3 4
  2. Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain. (PMID: 9039502) Nagase T. … Nomura N. (DNA Res. 1996) 3 4
  3. Identification of high-molecular-weight proteins with multiple EGF- like motifs by motif-trap screening. (PMID: 9693030) Nakayama M. … Ohara O. (Genomics 1998) 2 3
  4. LDL-cholesterol concentrations: a genome-wide association study. (PMID: 18262040) Sandhu M.S. … Mooser V. (Lancet 2008) 3 48
  5. The novel genetic variant predisposing to coronary artery disease in the region of the PSRC1 and CELSR2 genes on chromosome 1 associates with serum cholesterol. (PMID: 18649068) Samani N.J. … Tobin M.D. (J. Mol. Med. 2008) 3 48

Products for CELSR2 Gene

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Sources for CELSR2 Gene

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