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CELSR1 (cadherin EGF LAG seven-pass G-type receptor 1)

Identity

Alias_namescadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog
cadherin, EGF LAG seven-pass G-type receptor 1
Alias_symbol (synonym)ME2
HFMI2
FMI2
CDHF9
ADGRC1
Other alias
HGNC (Hugo) CELSR1
LocusID (NCBI) 9620
Atlas_Id 54208
Location 22q13.31  [Link to chromosome band 22q13]
Location_base_pair Starts at 46360834 and ends at 46537170 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CELSR1 (22q13.31) / CD52 (1p36.11)CELSR1 (22q13.31) / CERK (22q13.31)CELSR1 (22q13.31) / GLTP (12q24.11)
CELSR1 (22q13.31) / KCNJ4 (22q13.1)CELSR1 (22q13.31) / MAFF (22q13.1)CELSR1 (22q13.31) / MOB3A (19p13.3)
CELSR1 (22q13.31) / PACSIN2 (22q13.2)CELSR1 (22q13.31) / SEZ6L (22q12.1)DEPDC5 (22q12.2) / CELSR1 (22q13.31)
LSAMP (3q13.31) / CELSR1 (22q13.31)OSBPL2 (20q13.33) / CELSR1 (22q13.31)SNAP29 (22q11.21) / CELSR1 (22q13.31)
CELSR1 22q13.31 / CD52 1p36.11CELSR1 22q13.31 / CERK 22q13.31CELSR1 22q13.31 / MAFF 22q13.1
CELSR1 22q13.31 / PACSIN2 22q13.2CELSR1 22q13.31 / SEZ6L 22q12.1

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)CELSR1   1850
Cards
Entrez_Gene (NCBI)CELSR1  9620  cadherin EGF LAG seven-pass G-type receptor 1
AliasesADGRC1; CDHF9; FMI2; HFMI2; 
ME2
GeneCards (Weizmann)CELSR1
Ensembl hg19 (Hinxton)ENSG00000075275 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000075275 [Gene_View]  chr22:46360834-46537170 [Contig_View]  CELSR1 [Vega]
ICGC DataPortalENSG00000075275
TCGA cBioPortalCELSR1
AceView (NCBI)CELSR1
Genatlas (Paris)CELSR1
WikiGenes9620
SOURCE (Princeton)CELSR1
Genetics Home Reference (NIH)CELSR1
Genomic and cartography
GoldenPath hg38 (UCSC)CELSR1  -     chr22:46360834-46537170 -  22q13.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CELSR1  -     22q13.31   [Description]    (hg19-Feb_2009)
EnsemblCELSR1 - 22q13.31 [CytoView hg19]  CELSR1 - 22q13.31 [CytoView hg38]
Mapping of homologs : NCBICELSR1 [Mapview hg19]  CELSR1 [Mapview hg38]
OMIM604523   
Gene and transcription
Genbank (Entrez)AF231024 AK302517 AL831846 BC000059 BC013631
RefSeq transcript (Entrez)NM_014246
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CELSR1
Cluster EST : UnigeneHs.252387 [ NCBI ]
CGAP (NCI)Hs.252387
Alternative Splicing GalleryENSG00000075275
Gene ExpressionCELSR1 [ NCBI-GEO ]   CELSR1 [ EBI - ARRAY_EXPRESS ]   CELSR1 [ SEEK ]   CELSR1 [ MEM ]
Gene Expression Viewer (FireBrowse)CELSR1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9620
GTEX Portal (Tissue expression)CELSR1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NYQ6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NYQ6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NYQ6
Splice isoforms : SwissVarQ9NYQ6
PhosPhoSitePlusQ9NYQ6
Domaine pattern : Prosite (Expaxy)ASX_HYDROXYL (PS00010)    CADHERIN_1 (PS00232)    CADHERIN_2 (PS50268)    EGF_1 (PS00022)    EGF_2 (PS01186)    EGF_3 (PS50026)    EGF_LAM_1 (PS01248)    EGF_LAM_2 (PS50027)    G_PROTEIN_RECEP_F2_3 (PS50227)    G_PROTEIN_RECEP_F2_4 (PS50261)    GPS (PS50221)    LAM_G_DOMAIN (PS50025)   
Domains : Interpro (EBI)Cadherin    Cadherin-like    Cadherin_CS    ConA-like_dom    EGF-like_Ca-bd_dom    EGF-like_CS    EGF-like_dom    EGF-type_Asp/Asn_hydroxyl_site    GAIN_dom_N    GPCR_2-like    GPCR_2_extracellular_dom    GPCR_2_secretin-like    GPS    Growth_fac_rcpt_    Laminin_EGF    Laminin_G   
Domain families : Pfam (Sanger)7tm_2 (PF00002)    Cadherin (PF00028)    EGF (PF00008)    GAIN (PF16489)    GPS (PF01825)    HRM (PF02793)    Laminin_EGF (PF00053)    Laminin_G_2 (PF02210)   
Domain families : Pfam (NCBI)pfam00002    pfam00028    pfam00008    pfam16489    pfam01825    pfam02793    pfam00053    pfam02210   
Domain families : Smart (EMBL)CA (SM00112)  EGF (SM00181)  EGF_CA (SM00179)  EGF_Lam (SM00180)  GPS (SM00303)  HormR (SM00008)  LamG (SM00282)  
Conserved Domain (NCBI)CELSR1
DMDM Disease mutations9620
Blocks (Seattle)CELSR1
SuperfamilyQ9NYQ6
Human Protein AtlasENSG00000075275
Peptide AtlasQ9NYQ6
HPRD05160
IPIIPI00003384   IPI00874160   IPI00220393   
Protein Interaction databases
DIP (DOE-UCLA)Q9NYQ6
IntAct (EBI)Q9NYQ6
FunCoupENSG00000075275
BioGRIDCELSR1
STRING (EMBL)CELSR1
ZODIACCELSR1
Ontologies - Pathways
QuickGOQ9NYQ6
Ontology : AmiGOestablishment of planar polarity  neuron migration  neural tube closure  hair follicle development  transmembrane signaling receptor activity  G-protein coupled receptor activity  calcium ion binding  nucleoplasm  plasma membrane  integral component of plasma membrane  homophilic cell adhesion via plasma membrane adhesion molecules  G-protein coupled receptor signaling pathway  Rho protein signal transduction  central nervous system development  central nervous system development  locomotory behavior  anterior/posterior pattern specification  integral component of membrane  regulation of actin cytoskeleton organization  wound healing  establishment of planar polarity of embryonic epithelium  inner ear morphogenesis  apical protein localization  protein dimerization activity  establishment of body hair planar orientation  Wnt signaling pathway, planar cell polarity pathway  orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis  planar dichotomous subdivision of terminal units involved in lung branching morphogenesis  lateral sprouting involved in lung morphogenesis  planar cell polarity pathway involved in neural tube closure  protein localization involved in establishment of planar polarity  
Ontology : EGO-EBIestablishment of planar polarity  neuron migration  neural tube closure  hair follicle development  transmembrane signaling receptor activity  G-protein coupled receptor activity  calcium ion binding  nucleoplasm  plasma membrane  integral component of plasma membrane  homophilic cell adhesion via plasma membrane adhesion molecules  G-protein coupled receptor signaling pathway  Rho protein signal transduction  central nervous system development  central nervous system development  locomotory behavior  anterior/posterior pattern specification  integral component of membrane  regulation of actin cytoskeleton organization  wound healing  establishment of planar polarity of embryonic epithelium  inner ear morphogenesis  apical protein localization  protein dimerization activity  establishment of body hair planar orientation  Wnt signaling pathway, planar cell polarity pathway  orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis  planar dichotomous subdivision of terminal units involved in lung branching morphogenesis  lateral sprouting involved in lung morphogenesis  planar cell polarity pathway involved in neural tube closure  protein localization involved in establishment of planar polarity  
NDEx NetworkCELSR1
Atlas of Cancer Signalling NetworkCELSR1
Wikipedia pathwaysCELSR1
Orthology - Evolution
OrthoDB9620
GeneTree (enSembl)ENSG00000075275
Phylogenetic Trees/Animal Genes : TreeFamCELSR1
HOVERGENQ9NYQ6
HOGENOMQ9NYQ6
Homologs : HomoloGeneCELSR1
Homology/Alignments : Family Browser (UCSC)CELSR1
Gene fusions - Rearrangements
Fusion : MitelmanCELSR1/CD52 [22q13.31/1p36.11]  
Fusion : MitelmanCELSR1/CERK [22q13.31/22q13.31]  [t(22;22)(q13;q13)]  
Fusion : MitelmanCELSR1/KCNJ4 [22q13.31/22q13.1]  [del(22)(q13q13)]  
Fusion : MitelmanCELSR1/MAFF [22q13.31/22q13.1]  [t(22;22)(q13;q13)]  
Fusion : MitelmanCELSR1/PACSIN2 [22q13.31/22q13.2]  [t(22;22)(q13;q13)]  
Fusion : MitelmanCELSR1/SEZ6L [22q13.31/22q12.1]  [t(22;22)(q12;q13)]  
Fusion : MitelmanLSAMP/CELSR1 [3q13.31/22q13.31]  [t(3;22)(q13;q13)]  
Fusion: TCGACELSR1 22q13.31 CD52 1p36.11 LUAD
Fusion: TCGACELSR1 22q13.31 CERK 22q13.31 BRCA
Fusion: TCGACELSR1 22q13.31 MAFF 22q13.1 BRCA
Fusion: TCGACELSR1 22q13.31 PACSIN2 22q13.2 HNSC
Fusion: TCGACELSR1 22q13.31 SEZ6L 22q12.1 LUSC
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCELSR1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CELSR1
dbVarCELSR1
ClinVarCELSR1
1000_GenomesCELSR1 
Exome Variant ServerCELSR1
ExAC (Exome Aggregation Consortium)CELSR1 (select the gene name)
Genetic variants : HAPMAP9620
Genomic Variants (DGV)CELSR1 [DGVbeta]
DECIPHERCELSR1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCELSR1 
Mutations
ICGC Data PortalCELSR1 
TCGA Data PortalCELSR1 
Broad Tumor PortalCELSR1
OASIS PortalCELSR1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCELSR1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCELSR1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variition$DAtabase
BioMutasearch CELSR1
DgiDB (Drug Gene Interaction Database)CELSR1
DoCM (Curated mutations)CELSR1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CELSR1 (select a term)
intoGenCELSR1
Cancer3DCELSR1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604523   
Orphanet
MedgenCELSR1
Genetic Testing Registry CELSR1
NextProtQ9NYQ6 [Medical]
TSGene9620
GENETestsCELSR1
Target ValidationCELSR1
Huge Navigator CELSR1 [HugePedia]
snp3D : Map Gene to Disease9620
BioCentury BCIQCELSR1
ClinGenCELSR1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9620
Chemical/Pharm GKB GenePA26393
Clinical trialCELSR1
Miscellaneous
canSAR (ICR)CELSR1 (select the gene name)
Probes
Litterature
PubMed28 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCELSR1
EVEXCELSR1
GoPubMedCELSR1
iHOPCELSR1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 25 19:01:54 CEST 2017

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