Free for academic non-profit institutions. Other users need a Commercial license

Aliases for CELSR3 Gene

Aliases for CELSR3 Gene

  • Cadherin EGF LAG Seven-Pass G-Type Receptor 3 2 3 5
  • Multiple Epidermal Growth Factor-Like Domains Protein 2 3 4
  • Adhesion G Protein-Coupled Receptor C3 2 3
  • Epidermal Growth Factor-Like Protein 1 3 4
  • Multiple EGF-Like Domains Protein 2 3 4
  • Cadherin Family Member 11 3 4
  • Flamingo Homolog 1 3 4
  • EGF-Like Protein 1 3 4
  • CDHF11 3 4
  • HFMI1 3 4
  • EGFL1 3 4
  • MEGF2 3 4
  • FMI1 3 4
  • Cadherin, EGF LAG Seven-Pass G-Type Receptor 3 (Flamingo Homolog, Drosophila) 3
  • Cadherin EGF LAG Seven-Pass G-Type Receptor 3, Flamingo (Drosophila) Homolog 2
  • Cadherin, EGF LAG Seven-Pass G-Type Receptor 3 2
  • Flamingo Homolog 1 (Drosophila) 2
  • EGF-Like-Domain, Multiple 1 3
  • Anchor Protein 3
  • KIAA0812 4
  • ADGRC3 3
  • RESDA1 3

External Ids for CELSR3 Gene

Previous HGNC Symbols for CELSR3 Gene

  • EGFL1

Previous GeneCards Identifiers for CELSR3 Gene

  • GC03M048463
  • GC03M047956
  • GC03M048493
  • GC03M048634
  • GC03M048638
  • GC03M048648

Summaries for CELSR3 Gene

Entrez Gene Summary for CELSR3 Gene

  • This gene belongs to the flamingo subfamily, which is included in the cadherin superfamily. The flamingo cadherins consist of nonclassic-type cadherins that do not interact with catenins. They are plasma membrane proteins containing seven epidermal growth factor-like repeats, nine cadherin domains and two laminin A G-type repeats in their ectodomain. They also have seven transmembrane domains, a characteristic feature of their subfamily. The encoded protein may be involved in the regulation of contact-dependent neurite growth and may play a role in tumor formation. [provided by RefSeq, Jun 2013]

GeneCards Summary for CELSR3 Gene

CELSR3 (Cadherin EGF LAG Seven-Pass G-Type Receptor 3) is a Protein Coding gene. Diseases associated with CELSR3 include Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex and Exstrophy Of Bladder. 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 CELSR2.

UniProtKB/Swiss-Prot for CELSR3 Gene

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

Gene Wiki entry for CELSR3 Gene

Additional gene information for CELSR3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CELSR3 Gene

Genomics for CELSR3 Gene

Regulatory Elements for CELSR3 Gene

Enhancers for CELSR3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03H048682 1.3 ENCODE dbSUPER 13 -22.7 -22695 5 HDGF ATF1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B ZNF121 GLIS2 GATA2 WDR6 ENSG00000235236 AMT NCKIPSD DHX30 FCF1P2 IP6K2 CELSR3 CELSR3-AS1 ZNF589
GH03H048661 1.1 ENCODE 0.7 -0.7 -651 3 HDGF PKNOX1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 WDR6 QRICH1 ATRIP USP19 ZNF589 NME6 MRPS18AP1 ENSG00000235236 TMEM89 CCDC71
GH03H048662 1.1 ENCODE 0.7 +1.1 1063 0 MLX ZFP64 ARID4B SIN3A DMAP1 SLC30A9 ZNF766 ZNF143 ZNF207 PAF1 CELSR3 PIR43914
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CELSR3 on UCSC Golden Path with GeneCards custom track

Promoters for CELSR3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000152133 15 601 NFRKB BRCA1 YY1 ATF7 SP3 HCFC1 YY2 ZHX2 ZEB2 MIER2

Genomic Location for CELSR3 Gene

Chromosome:
3
Start:
48,636,463 bp from pter
End:
48,662,915 bp from pter
Size:
26,453 bases
Orientation:
Minus strand

Genomic View for CELSR3 Gene

Genes around CELSR3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CELSR3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CELSR3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CELSR3 Gene

Proteins for CELSR3 Gene

  • Protein details for CELSR3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NYQ7-CELR3_HUMAN
    Recommended name:
    Cadherin EGF LAG seven-pass G-type receptor 3
    Protein Accession:
    Q9NYQ7
    Secondary Accessions:
    • O75092

    Protein attributes for CELSR3 Gene

    Size:
    3312 amino acids
    Molecular mass:
    358185 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for CELSR3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CELSR3 Gene

Post-translational modifications for CELSR3 Gene

  • Ubiquitination at posLast=21432143, Lys2477, and posLast=27902790
  • Glycosylation at Asn632, Asn847, posLast=11821182, Asn1222, Asn1317, posLast=13271327, posLast=16491649, Asn1713, posLast=17701770, Asn2053, posLast=21772177, posLast=21962196, Asn2386, Asn2474, and Asn2506
  • Modification sites at PhosphoSitePlus

Other Protein References for CELSR3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CELSR3 Gene

Domains & Families for CELSR3 Gene

Gene Families for CELSR3 Gene

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

Suggested Antigen Peptide Sequences for CELSR3 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NYQ7

UniProtKB/Swiss-Prot:

CELR3_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 CELSR3: view

Function for CELSR3 Gene

Molecular function for CELSR3 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 CELSR3 Gene

Gene Ontology (GO) - Molecular Function for CELSR3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004871 signal transducer activity IEA --
GO:0004888 transmembrane signaling receptor activity IEA --
GO:0004930 G-protein coupled receptor activity IEA,TAS --
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 17474147
genes like me logo Genes that share ontologies with CELSR3: view
genes like me logo Genes that share phenotypes with CELSR3: view

Animal Models for CELSR3 Gene

MGI Knock Outs for CELSR3:

Animal Model Products

  • Taconic Biosciences Mouse Models for CELSR3

CRISPR Products

miRNA for CELSR3 Gene

miRTarBase miRNAs that target CELSR3

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CELSR3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CELSR3 Gene

Localization for CELSR3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CELSR3 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 CELSR3 gene
Compartment Confidence
plasma membrane 5

Gene Ontology (GO) - Cellular Components for CELSR3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA,TAS --
genes like me logo Genes that share ontologies with CELSR3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CELSR3 Gene

Pathways & Interactions for CELSR3 Gene

SuperPathways for CELSR3 Gene

SuperPathway Contained pathways
1 GPCRs, Other
genes like me logo Genes that share pathways with CELSR3: view

Pathways by source for CELSR3 Gene

1 BioSystems pathway for CELSR3 Gene

Gene Ontology (GO) - Biological Process for CELSR3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001764 neuron migration IEA --
GO:0001932 regulation of protein phosphorylation IEA --
GO:0007155 cell adhesion IEA --
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules IEA --
GO:0007165 signal transduction IEA --
genes like me logo Genes that share ontologies with CELSR3: view

No data available for SIGNOR curated interactions for CELSR3 Gene

Drugs & Compounds for CELSR3 Gene

No Compound Related Data Available

Transcripts for CELSR3 Gene

mRNA/cDNA for CELSR3 Gene

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

Unigene Clusters for CELSR3 Gene

Cadherin, EGF LAG seven-pass G-type receptor 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CELSR3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for CELSR3 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:
SP22:

ExUns: 27 ^ 28 ^ 29a · 29b ^ 30 ^ 31a · 31b ^ 32a · 32b ^ 33 ^ 34a · 34b ^ 35 ^ 36a · 36b · 36c ^ 37a · 37b ^ 38 ^ 39a · 39b ^ 40a · 40b · 40c ^ 41a · 41b ·
SP1: - -
SP2: - - -
SP3: - - -
SP4: - -
SP5: - - -
SP6: -
SP7: - - - - -
SP8:
SP9:
SP10: - -
SP11:
SP12:
SP13: - - - - -
SP14:
SP15: - - -
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:
SP22:

ExUns: 41c · 41d ^ 42a · 42b ^ 43a · 43b · 43c ^ 44a · 44b · 44c · 44d ^ 45a · 45b ^ 46a · 46b ^ 47a · 47b · 47c ^ 48 ^ 49 ^ 50 ^ 51 ^ 52 ^ 53a · 53b · 53c ^
SP1:
SP2: - - - -
SP3: - - - -
SP4: - - -
SP5: - - -
SP6: - - - -
SP7: - - - - - - - -
SP8: - - - -
SP9: - - -
SP10: - -
SP11: - - -
SP12: -
SP13: - -
SP14:
SP15:
SP16:
SP17: -
SP18:
SP19:
SP20:
SP21: -
SP22:

ExUns: 54a · 54b · 54c ^ 55a · 55b · 55c · 55d ^ 56 ^ 57 ^ 58a ·
SP1:
SP2: - - - -
SP3: - - - -
SP4: - - - -
SP5: - - - -
SP6: - - - -
SP7: - - - -
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17: -
SP18:
SP19:
SP20:
SP21:
SP22: - - -

Relevant External Links for CELSR3 Gene

GeneLoc Exon Structure for
CELSR3
ECgene alternative splicing isoforms for
CELSR3

Expression for CELSR3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CELSR3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CELSR3 Gene

This gene is overexpressed in Brain - Cerebellum (x9.1), Brain - Cerebellar Hemisphere (x7.9), and Pituitary (x6.7).

Protein differential expression in normal tissues from HIPED for CELSR3 Gene

This gene is overexpressed in Bone (31.2) and Pancreas (20.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CELSR3 Gene



NURSA nuclear receptor signaling pathways regulating expression of CELSR3 Gene:

CELSR3

SOURCE GeneReport for Unigene cluster for CELSR3 Gene:

Hs.631926

Evidence on tissue expression from TISSUES for CELSR3 Gene

  • Nervous system(4.7)
genes like me logo Genes that share expression patterns with CELSR3: view

Primer Products

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CELSR3 Gene

Orthologs for CELSR3 Gene

This gene was present in the common ancestor of animals.

Orthologs for CELSR3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CELSR3 33 34
  • 98.97 (n)
dog
(Canis familiaris)
Mammalia CELSR3 33 34
  • 89.02 (n)
cow
(Bos Taurus)
Mammalia CELSR3 33 34
  • 88.8 (n)
mouse
(Mus musculus)
Mammalia Celsr3 33 16 34
  • 87.03 (n)
rat
(Rattus norvegicus)
Mammalia Celsr3 33
  • 86.44 (n)
oppossum
(Monodelphis domestica)
Mammalia CELSR3 34
  • 63 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CELSR3 34
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves CELSR3 34
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CELSR3 34
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia celsr3 33
  • 65.98 (n)
zebrafish
(Danio rerio)
Actinopterygii celsr3 33 34
  • 65.28 (n)
fruit fly
(Drosophila melanogaster)
Insecta stan 35 34
  • 42 (a)
Cad89D 35
  • 25 (a)
CadN2 35
  • 25 (a)
shg 35
  • 25 (a)
worm
(Caenorhabditis elegans)
Secernentea fmi-1 34
  • 27 (a)
OneToMany
Species where no ortholog for CELSR3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 CELSR3 Gene

ENSEMBL:
Gene Tree for CELSR3 (if available)
TreeFam:
Gene Tree for CELSR3 (if available)

Paralogs for CELSR3 Gene

Paralogs for CELSR3 Gene

(15) SIMAP similar genes for CELSR3 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with CELSR3: view

Variants for CELSR3 Gene

Sequence variations from dbSNP and Humsavar for CELSR3 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs149614835 Uncertain significance 48,645,117(+) ACCTG(C/T)ATGCG upstream-variant-2KB, reference, missense
rs587777163 Uncertain significance 48,650,545(+) ACACA(C/T)CAGAT reference, missense
rs1000030494 -- 48,659,585(+) CAATT(C/G)CAGAG reference, missense
rs1000274401 -- 48,643,334(+) CGATC(C/T)AAGAT intron-variant
rs1000301493 -- 48,644,588(+) GGACA(C/G)AAAAA intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for CELSR3 Gene

Variant ID Type Subtype PubMed ID
nsv1073222 CNV deletion 25765185
nsv1073223 CNV deletion 25765185
nsv1112827 CNV deletion 24896259
nsv523981 CNV loss 19592680
nsv590246 CNV loss 21841781
nsv590247 CNV loss 21841781
nsv818138 CNV gain 17921354
nsv822075 CNV gain 20364138
nsv834685 CNV loss 17160897
nsv954485 CNV deletion 24416366

Variation tolerance for CELSR3 Gene

Residual Variation Intolerance Score: 4.39% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.47; 91.03% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CELSR3 Gene

Human Gene Mutation Database (HGMD)
CELSR3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CELSR3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CELSR3 Gene

Disorders for CELSR3 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CELSR3 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
bladder exstrophy-epispadias-cloacal exstrophy complex
  • exstrophy-epispadias complex
exstrophy of bladder
  • bladder exstrophy
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for CELSR3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CELSR3
genes like me logo Genes that share disorders with CELSR3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CELSR3 Gene

Publications for CELSR3 Gene

  1. 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 60
  2. Large exons encoding multiple ectodomains are a characteristic feature of protocadherin genes. (PMID: 10716726) Wu Q … Maniatis T (Proceedings of the National Academy of Sciences of the United States of America 2000) 3 4 60
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  4. De Novo Coding Variants Are Strongly Associated with Tourette Disorder. (PMID: 28472652) Willsey AJ … Heiman GA (Neuron 2017) 3 60
  5. Deregulation of the planar cell polarity genes CELSR3 and FZD3 in Hirschsprung disease. (PMID: 27619161) Su L … Jiang H (Experimental and molecular pathology 2016) 3 60

Products for CELSR3 Gene

Sources for CELSR3 Gene

Content
Loading form....