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Aliases for CELSR2 Gene

Aliases for CELSR2 Gene

  • Cadherin EGF LAG Seven-Pass G-Type Receptor 2 2 3
  • Multiple Epidermal Growth Factor-Like Domains Protein 3 3 4
  • Cadherin, EGF LAG Seven-Pass G-Type Receptor 2 2 5
  • 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
  • EGFL2 3 4
  • MEGF3 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
  • 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. Among its related pathways are GPCRs, Other. GO annotations related to this gene include G-protein coupled receptor activity and transmembrane signaling 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

Promoters for CELSR2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CELSR2 on UCSC Golden Path with GeneCards custom track

Genomic Location for CELSR2 Gene

Chromosome:
1
Start:
109,249,715 bp from pter
End:
109,275,756 bp from pter
Size:
26,042 bases
Orientation:
Plus strand

Genomic View for CELSR2 Gene

Genes around CELSR2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CELSR2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 Asn 486, Asn 557, Asn 701, Asn 1036, Asn 1076, Asn 1182, Asn 1212, Asn 1501, Asn 1565, Asn 1741, Asn 1827, Asn 1900, Asn 2024, Asn 2043, Asn 2061, Asn 2323, and Asn 2345
  • Modification sites at PhosphoSitePlus

Other Protein References for CELSR2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for CELSR2 Gene

Domains & Families for CELSR2 Gene

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 :
  • Contains 9 cadherin domains.
  • Belongs to the G-protein coupled receptor 2 family. LN-TM7 subfamily.
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.
genes like me logo Genes that share phenotypes with CELSR2: view

Animal Models for CELSR2 Gene

MGI Knock Outs for CELSR2:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets 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 2
extracellular 2
golgi apparatus 1

No data available for Gene Ontology (GO) - Cellular Components for CELSR2 Gene

Pathways & Interactions 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

Gene Ontology (GO) - Biological Process for CELSR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IEA --
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules IEA,ISS --
GO:0021999 neural plate anterior/posterior regionalization ISS --
genes like me logo Genes that share ontologies with CELSR2: view

No data available for SIGNOR curated interactions for CELSR2 Gene

Drugs & Compounds for CELSR2 Gene

(1) Drugs for CELSR2 Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
hmg coa reductase inhibitors Pharma 0
genes like me logo Genes that share compounds with CELSR2: view

Transcripts for CELSR2 Gene

Unigene Clusters for CELSR2 Gene

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

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

Protein differential expression in normal tissues from HIPED for CELSR2 Gene

This gene is overexpressed in Placenta (55.6) and Cerebrospinal fluid (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with CELSR2: view

Protein tissue co-expression partners for CELSR2 Gene

Primer Products

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
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
chimpanzee
(Pan troglodytes)
Mammalia CELSR2 35
  • 99.04 (n)
  • 98.74 (a)
CELSR2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Celsr2 35
  • 88.32 (n)
  • 96.3 (a)
oppossum
(Monodelphis domestica)
Mammalia CELSR2 36
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 82 (a)
ManyToMany
chicken
(Gallus gallus)
Aves CELSR2 36
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CELSR2 36
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia celsr2 35
  • 62.03 (n)
  • 63.64 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.13998 35
zebrafish
(Danio rerio)
Actinopterygii celsr2 36
  • 58 (a)
OneToMany
CELSR2 (2 of 2) 36
  • 73 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Cad89D 37
  • 26 (a)
CadN2 37
  • 25 (a)
shg 37
  • 25 (a)
stan 37
  • 40 (a)
stan 36
  • 31 (a)
OneToMany
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

(4) 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
rs653635 - 109,263,691(-) GAGGT(A/G)CCAGG reference, missense
rs12083590 - 109,253,276(+) TGAGC(A/G)GGGAA reference, missense
rs12567377 - 109,266,167(+) GCTTC(A/G)GGCTG reference, missense
rs17035649 - 109,269,984(+) GTGTC(A/G)CCTTG reference, missense
rs422442 -- 109,248,538(-) TGCCC(G/T)GGCCT upstream-variant-2KB

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

Variation tolerance for CELSR2 Gene

Residual Variation Intolerance Score: 0.536% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.09; 84.47% of all genes are more intolerant (likely to be disease-causing)

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

Relevant External Links for CELSR2

Genetic Association Database (GAD)
CELSR2
Human Genome Epidemiology (HuGE) Navigator
CELSR2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CELSR2

No disorders were found for CELSR2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas 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 67
  2. 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
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. Wnt signaling in midbrain dopaminergic neuron development and regenerative medicine for Parkinson's disease. (PMID: 24431302) Arenas E. (J Mol Cell Biol 2014) 3
  5. CELSR2-PSRC1-SORT1 gene expression and association with coronary artery disease and plasma lipid levels in an Asian Indian cohort. (PMID: 24674750) Arvind P. … Shanker J. (J Cardiol 2014) 3

Products for CELSR2 Gene

Sources for CELSR2 Gene

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