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CELSR2 Gene(Protein Coding)

Cadherin EGF LAG Seven-Pass G-Type Receptor 2

GCID:
GC01P109250
GIFtS:
50
Genes Participants
UDN Logo

Aliases for CELSR2 Gene

Aliases for CELSR2 Gene

  • Cadherin EGF LAG Seven-Pass G-Type Receptor 2 2 3 5
  • 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
  • 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
  • Cadherin, EGF LAG Seven-Pass G-Type Receptor 2 2
  • 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 Joubert Syndrome 1. Among its related pathways are Ectoderm Differentiation and Wnt / Hedgehog / Notch. Gene Ontology (GO) annotations related to this gene include G-protein coupled receptor activity and transmembrane signaling receptor activity. An important paralog of this gene is CELSR1.

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

Additional gene information for CELSR2 Gene

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

Genomics for CELSR2 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for CELSR2 Gene

Promoters and enhancers for CELSR2 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH01I109248 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 550.8 -0.1 -122 1.2 HDGF ARNT SIN3A ZNF2 GLIS2 FOS ATF7 REST ZNF592 KAT8 CELSR2 ENSG00000258634 STRIP1 PRPF38B KIAA1324 PIR56087
GH01I109272 Enhancer 1.9 VISTA Ensembl ENCODE dbSUPER 47.2 +26.1 26129 6.3 HDGF PKNOX1 CLOCK FOXA2 MLX ARNT ARID4B NEUROD1 SIN3A DMAP1 CELSR2 PRPF38B SORT1 ENSG00000258634 RPL17P7 PSRC1 RPL7P8 PIR46363
GH01I109213 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 6 -34.7 -34658 3.6 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SARS GC01M109214 GNAI3 SORT1 ENSG00000258634 PSRC1 MYBPHL CELSR2 GC01P109222
GH01I109238 Enhancer 1.4 Ensembl ENCODE dbSUPER 8.5 -9.5 -9483 3.7 HDGF PKNOX1 CLOCK SMAD1 ARNT ARID4B NEUROD1 SIN3A ZNF2 ZBTB7B ENSG00000258634 PRPF38B STRIP1 SORT1 SARS CELSR2 KIAA1324 PIR56087
GH01I109252 Enhancer 1.7 VISTA Ensembl ENCODE dbSUPER 5.4 +4.9 4919 3.3 HDGF PKNOX1 ATF1 ARNT ARID4B SIN3A GLIS2 GATA2 ARID2 ZNF143 PSRC1 CELSR2 GSTM3 PIR46363
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CELSR2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CELSR2 gene promoter:

Genomic Locations for CELSR2 Gene

Genomic Locations for CELSR2 Gene
chr1:109,249,715-109,275,756
(GRCh38/hg38)
Size:
26,042 bases
Orientation:
Plus strand
chr1:109,792,641-109,818,378
(GRCh37/hg19)

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 Structure • Gene Density

RefSeq DNA sequence for CELSR2 Gene

Proteins for CELSR2 Gene

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  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for CELSR2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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, posLast=557557, posLast=701701, posLast=10361036, posLast=10761076, posLast=11821182, Asn1212, posLast=15011501, posLast=15651565, Asn1741, posLast=18271827, Asn1900, Asn2024, posLast=20432043, posLast=20612061, posLast=23232323, 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 & Families for CELSR2 Gene

Gene Families for CELSR2 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • G-protein coupled receptors
  • Predicted membrane proteins

Protein Domains for CELSR2 Gene

InterPro:
Blocks:
ProtoNet:

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 :
  • Belongs to the G-protein coupled receptor 2 family. LN-TM7 subfamily.
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

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  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for CELSR2 Gene

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

Phenotypes From GWAS Catalog for CELSR2 Gene

Gene Ontology (GO) - Molecular Function for CELSR2 Gene

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

Animal Models for CELSR2 Gene

MGI Knock Outs for CELSR2:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CELSR2 gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytosol 2
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
See all subcellular structures

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 IEA --
GO:0016021 integral component of membrane NAS 10907856
genes like me logo Genes that share ontologies with CELSR2: view

Pathways & Interactions for CELSR2 Gene

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

Pathways by source for CELSR2 Gene

2 BioSystems pathways for CELSR2 Gene
1 Cell Signaling Technology pathway for CELSR2 Gene

Gene Ontology (GO) - Biological Process for CELSR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated ISS --
GO:0007155 cell adhesion IEA --
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules ISS --
GO:0007165 signal transduction IEA --
GO:0007166 cell surface receptor signaling pathway IEA --
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

Products:

  1. Drug

(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

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for CELSR2 Gene

(2) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(165) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CELSR2 Gene

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

Clone 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

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CELSR2 Gene

mRNA expression in normal human tissues for CELSR2 Gene
mRNA expression by GTEx for CELSR2 GenemRNA expression by BioGPS 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, MaxQB, and MOPED for CELSR2 Gene



Protein tissue co-expression partners for CELSR2 Gene

NURSA nuclear receptor signaling pathways regulating expression of CELSR2 Gene:

CELSR2

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.

Evidence on tissue expression from TISSUES for CELSR2 Gene

  • Nervous system(4.9)
genes like me logo Genes that share expression patterns with CELSR2: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 34
  • 99.04 (n)
dog
(Canis familiaris)
 Mammalia CELSR2 33 34
  • 91.19 (n)
cow
(Bos Taurus)
 Mammalia CELSR2 33 34
  • 90.87 (n)
oppossum
(Monodelphis domestica)
 Mammalia CELSR2 34
  • 89 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Celsr2 33
  • 88.32 (n)
mouse
(Mus musculus)
 Mammalia Celsr2 33 16 34
  • 88.11 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 34
  • 82 (a)
 ManyToMany
chicken
(Gallus gallus)
 Aves CELSR2 34
  • 78 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia CELSR2 34
  • 76 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia celsr2 33
  • 62.03 (n)
African clawed frog
(Xenopus laevis)
 Amphibia Xl.13998 33
zebrafish
(Danio rerio)
 Actinopterygii CELSR2 (2 of 2) 34
  • 73 (a)
 OneToMany
celsr2 34
  • 58 (a)
 OneToMany
fruit fly
(Drosophila melanogaster)
 Insecta stan 35 34
  • 40 (a)
Cad89D 35
  • 26 (a)
CadN2 35
  • 25 (a)
shg 35
  • 25 (a)
worm
(Caenorhabditis elegans)
 Secernentea fmi-1 34
  • 28 (a)
 OneToMany
Species where no ortholog for CELSR2 was found in the sources mined by GeneCards:
  • 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

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  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for CELSR2 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs12740374 association, Low density lipoprotein cholesterol level quantitative trait locus 6 109,274,968(+) G/T 3_prime_UTR_variant
rs561330579 likely-pathogenic, Global developmental delay, Intellectual disability 109,258,951(+) C/G/T coding_sequence_variant, missense_variant
rs773722162 likely-pathogenic, Orofacial-digital syndrome III 109,272,916(+) GAGGAGGAAGAAGAGGAGGA/GAGGAGGAAGAAGAGGAGGAAGAAGAGGAGGA coding_sequence_variant, inframe_insertion
rs1064797116 uncertain-significance, not provided 109,252,460(+) A/G/T coding_sequence_variant, missense_variant
rs202022169 uncertain-significance, not provided 109,262,946(+) T/C coding_sequence_variant, missense_variant

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

Variant ID Type Subtype PubMed ID
esv3444646 CNV duplication 20981092
esv993086 CNV deletion 20482838
nsv1012267 CNV gain 25217958
nsv1076663 CNV deletion 25765185
nsv470732 CNV loss 18288195
nsv517354 CNV loss 19592680
nsv547469 CNV loss 21841781
nsv951381 CNV deletion 24416366

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)

Additional Variant Information for CELSR2 Gene

Human Gene Mutation Database (HGMD)
CELSR2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CELSR2

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

Disorders for CELSR2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CELSR2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
joubert syndrome 1
  • jbts1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CELSR2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CELSR2: view

No data available for 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 JB … Scherer SW (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 2 3 4 58
  2. 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. (PMID: 22003152) Grallert H … Ballantyne CM (European heart journal 2012) 3 44 58
  3. Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project. (PMID: 21347282) Lettre G … Boerwinkle E (PLoS genetics 2011) 3 44 58
  4. Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits. (PMID: 21943158) Middelberg RP … Whitfield JB (BMC medical genetics 2011) 3 44 58
  5. A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease. (PMID: 21378988) Coronary Artery Disease (C4D) Genetics Consortium (Nature genetics 2011) 3 44 58

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