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CELSR3 Gene

protein-coding   GIFtS: 56
GCID: GC03M048673

Cadherin, EGF LAG Seven-Pass G-Type Receptor 3

(Previous names: cadherin EGF LAG seven-pass G-type receptor 3, flamingo...)
(Previous symbol: EGFL1)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Cadherin, EGF LAG Seven-Pass G-Type Receptor 31 2     Cadherin EGF LAG Seven-Pass G-Type Receptor 3, Flamingo (Drosophila)
Homolog1
EGFL11 2 3 5     Flamingo Homolog 1 (Drosophila)1
MEGF22 3 5     HFMI12
Cadherin Family Member 112 3     RESDA12
Epidermal Growth Factor-Like Protein 12 3     Anchor Protein2
Flamingo Homolog 12 3     Cadherin EGF LAG Seven-Pass G-Type Receptor 32
Multiple EGF-Like Domains Protein 22 3     Cadherin, EGF LAG Seven-Pass G-Type Receptor 3 (Flamingo Homolog,
Drosophila)2
Multiple Epidermal Growth Factor-Like Domains Protein 22 3     EGF-Like-Domain, Multiple 12
CDHF112 3     KIAA08123
FMI12 3     hFmi13
EGF-Like Protein 12 3     

External Ids:    HGNC: 32301   Entrez Gene: 19512   Ensembl: ENSG000000083007   OMIM: 6042645   UniProtKB: Q9NYQ73   

Export aliases for CELSR3 gene to outside databases

Previous GC identifers: GC03M048463 GC03M047956 GC03M048493 GC03M048634 GC03M048638 GC03M048648


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. GO annotations related to this gene include G-protein coupled receptor activity and calcium ion binding. An important paralog of this gene is DCHS1.

UniProtKB/Swiss-Prot: CELR3_HUMAN, Q9NYQ7
Function: Receptor that may have an important role in cell/cell signaling during nervous system formation

Gene Wiki entry for CELSR3 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000003.11  NC_018914.2  NT_022517.19  
Regulatory elements:
   Regulatory transcription factor binding sites in the CELSR3 gene promoter:
         AP-1   p53   ATF-2   NRSF form 1   c-Jun   NRSF form 2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCELSR3 promoter sequence
   Search Chromatin IP Primers for CELSR3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CELSR3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3p21.31   Ensembl cytogenetic band:  3p21.31   HGNC cytogenetic band: 3p21.31

CELSR3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CELSR3 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M048673:  view genomic region     (about GC identifiers)

Start:
48,673,896 bp from pter      End:
48,700,348 bp from pter
Size:
26,453 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: CELR3_HUMAN, Q9NYQ7 (See protein sequence)
Recommended Name: Cadherin EGF LAG seven-pass G-type receptor 3 precursor  
Size: 3312 amino acids; 358185 Da
Secondary accessions: O75092
Alternative splicing: 2 isoforms:  Q9NYQ7-1   Q9NYQ7-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CELSR3: NX_Q9NYQ7

Explore proteomics data for CELSR3 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys2143, Lys2477, Lys2790
  • Glycosylation2 at Asn632, Asn847, Asn1182, Asn1222, Asn1317, Asn1327, Asn1649, Asn1713, Asn1770, Asn2053,
                                 Asn2177, Asn2196, Asn2386, Asn2474, Asn2506
  • Modification sites at PhosphoSitePlus

  • See CELSR3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001398.2  
    ENSEMBL proteins: 
     ENSP00000164024   ENSP00000445694  

    CELSR3 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for CELSR3

     
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    antibodies-online proteins for CELSR3 (2 products) 

     
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    antibodies-online antibodies for CELSR3 (56 products) 

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    GPCRBO: GPCR / Class B : Orphans
    MCDH: Cadherins / Major cadherins

    IUPHAR Guide to PHARMACOLOGY protein family classification: CELSR3
    Adhesion Class GPCRs

    Selected InterPro protein domains (see all 15):
     IPR000742 EG-like_dom
     IPR013320 ConA-like_subgrp
     IPR001879 GPCR_2_extracellular_dom
     IPR001791 Laminin_G
     IPR015919 Cadherin-like

    Graphical View of Domain Structure for InterPro Entry Q9NYQ7

    ProtoNet protein and cluster: Q9NYQ7

    Selected Blocks protein domains (see all 8):
    IPB000152 Aspartic acid and asparagine hydroxylation site
    IPB000203 GPS domain
    IPB000832 G-protein coupled receptors family 2 (secretin-like)
    IPB001791 Laminin G
    IPB001881 EGF-like calcium-binding


    UniProtKB/Swiss-Prot: CELR3_HUMAN, Q9NYQ7
    Similarity: Belongs to the G-protein coupled receptor 2 family. LN-TM7 subfamily
    Similarity: Contains 9 cadherin domains
    Similarity: Contains 8 EGF-like domains
    Similarity: Contains 1 GPS domain
    Similarity: Contains 1 laminin EGF-like domain
    Similarity: Contains 2 laminin G-like domains


    Find genes that share domains with CELSR3           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CELR3_HUMAN, Q9NYQ7
    Function: Receptor that may have an important role in cell/cell signaling during nervous system formation

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004888transmembrane signaling receptor activity ----
    GO:0004930G-protein coupled receptor activity IEA--
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding IPI17474147
         
    Find genes that share ontologies with CELSR3           About GenesLikeMe


    Phenotypes:
         8 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Celsr3):
     behavior/neurological  cellular  digestive/alimentary  growth/size/body  homeostasis/metabolism 
     mortality/aging  nervous system  respiratory system 

    Find genes that share phenotypes with CELSR3           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Celsr3tm1Agof for CELSR3

       genOway: Develop your customized and physiologically relevant rodent model for CELSR3

    miRNA
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    miRTarBase miRNAs that target CELSR3:
    hsa-mir-30c-5p (MIRT048022), hsa-mir-335-5p (MIRT017431)

    Block miRNA regulation of human, mouse, rat CELSR3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CELSR3 (see all 54):
    hsa-miR-3938 hsa-miR-3607-3p hsa-miR-330-5p hsa-miR-30d hsa-miR-29b-1* hsa-miR-548m hsa-miR-1184 hsa-miR-30a
    SwitchGear 3'UTR luciferase reporter plasmidCELSR3 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CELSR3


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CELR3_HUMAN, Q9NYQ7: Cell membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytoskeleton2
    endoplasmic reticulum1
    mitochondrion1
    nucleus1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane IEA--
    GO:0016020membrane ----
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with CELSR3           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CELSR3 About    
    See pathways by source

    SuperPathContained pathways About
    1Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    SLC-mediated transmembrane transport0.47
    Transport of inorganic cations/anions and amino acids/oligopeptides0.38
    Transmembrane transport of small molecules0.47
    Multifunctional anion exchangers0.00
    2GPCRs, Other
    GPCRs, Other


    1 BioSystems Pathway for CELSR3
        GPCRs, Other


        Pathway & Disease-focused RT2 Profiler PCR Array including CELSR3: 
              G Protein Coupled Receptors 384HT in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for CELSR3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for CELSR3 (Q9NYQ71, 2, 3 ENSP000001640244) via UniProtKB, MINT, STRING, and/or I2D (see all 37)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ABL1P005192, 3, ENSP000003614234MINT-8110119 I2D: score=3 STRING: ENSP00000361423
    FYNP062412, 3, ENSP000003576564MINT-8111031 I2D: score=3 STRING: ENSP00000357656
    SGSM2O431472, 3MINT-64875 I2D: score=5 
    NCK1P163331, 3, ENSP000002889864EBI-308417,EBI-389883 I2D: score=2 STRING: ENSP00000288986
    CLUHO751533, ENSP000003888724I2D: score=3 STRING: ENSP00000388872
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001764neuron migration IEA--
    GO:0007156homophilic cell adhesion IEA--
    GO:0007166cell surface receptor signaling pathway ----
    GO:0007186G-protein coupled receptor signaling pathway TAS15203201
    GO:0007218neuropeptide signaling pathway IEA--

    Find genes that share ontologies with CELSR3           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CELSR3 (CELR3)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CELSR3 gene: 
    NM_001407.2  

    Unigene Cluster for CELSR3:

    Cadherin, EGF LAG seven-pass G-type receptor 3
    Hs.631926  [show with all ESTs]
    Unigene Representative Sequence: NM_001407
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000164024(uc003cuf.1 uc003cul.3) ENST00000461362(uc010hkf.3)
    ENST00000498057 ENST00000470999 ENST00000544264(uc010hkg.3)
    miRNA
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    Block miRNA regulation of human, mouse, rat CELSR3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CELSR3 (see all 54):
    hsa-miR-3938 hsa-miR-3607-3p hsa-miR-330-5p hsa-miR-30d hsa-miR-29b-1* hsa-miR-548m hsa-miR-1184 hsa-miR-30a
    SwitchGear 3'UTR luciferase reporter plasmidCELSR3 3' UTR sequence
    Inhib. RNA
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    Clone
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      QuantiFast Probe-based Assays in human, mouse, rat CELSR3

    Additional mRNA sequence: 

    AB011536.1 AF231023.1 AK299868.1 BC130010.1 

    6 DOTS entries:

    DT.309556  DT.40311184  DT.305126  DT.120911015  DT.91672744  DT.95149315 

    Selected AceView cDNA sequences (see all 71):

    BU538638 BE219413 BE044324 AI359223 BX091306 BE858103 BM712531 BQ056846 
    BU738328 BM714676 AW590676 BM674265 AI926277 BM673813 AB011536 BM555126 
    AW770479 BE467095 BM665242 BQ063063 BU739303 BM749965 BE503784 BF970527 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CELSR3 (see all 22)    About this scheme

    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:                                                                                                                                                            

    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:                                                                                                  -     -                       -                           

    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:                                            -     -                                                                       -                                 

    ExUns: 54a · 54b · 54c ^ 55a · 55b · 55c · 55d ^ 56 ^ 57 ^ 58a ·
    SP1:                                                            
    SP2:  -           -     -     -                                 
    SP3:  -           -     -     -                                 
    SP4:  -     -     -     -                                       
    SP5:  -     -     -     -                                       


    ECgene alternative splicing isoforms for CELSR3

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CELSR3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CATACTCTTG
    CELSR3 Expression
    About this image


    CELSR3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Neural Ectoderm (Nervous System)
             Neural Plate
     
     Neural Tube (Nervous System)
             Spinal Dorsal Columns
     
     Dermis (Integumentary System)
    CELSR3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CELSR3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.631926
        Pathway & Disease-focused RT2 Profiler PCR Array including CELSR3: 
              G Protein Coupled Receptors 384HT in human mouse rat

    Primer
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CELSR3

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for CELSR3 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Celsr31 , 5 cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo more1, 5 87.03(n)1
    92.6(a)1
      9 (59.63 cM)5
    1079341  NM_080437.21  NP_536685.21 
     1088263205 
    chicken
    (Gallus gallus)
    Aves CELSR36
    cadherin, EGF LAG seven-pass G-type receptor 3
    73(a)
    1 ↔ 1
    12(9012888-9036163)
    lizard
    (Anolis carolinensis)
    Reptilia CELSR36
    cadherin, EGF LAG seven-pass G-type receptor 3
    63(a)
    1 ↔ 1
    2(164254121-164356861)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia celsr31 cadherin, EGF LAG seven-pass G-type receptor 3 65.98(n)
    68.98(a)
      100489102  XM_002933077.2  XP_002933123.2 
    zebrafish
    (Danio rerio)
    Actinopterygii celsr31 cadherin, EGF LAG seven-pass G-type receptor 3 65.28(n)
    67.4(a)
      100008568  XM_005167123.1  XP_005167180.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta stan3 dendrite morphogenesis transmembrane
    receptor
    42(a)
    (best of 4)
        --
    worm
    (Caenorhabditis elegans)
    Secernentea fmi-16
    Protein FMI-1 (fmi-1) mRNA, complete cds
    27(a)
    1 → many
    V(13019068-13033399) WBGene00001475


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CELSR3 gene
    DCHS12  DCHS22  CELSR12  FAT22  PCDH152  FAT42  FAT32  CELSR22  
    FAT12  
    15 SIMAP similar genes for CELSR3 using alignment to 2 protein entries:     CELR3_HUMAN (see all proteins):
    RESDA1    CELSR2    F9    CELSR1    FLJ00015    ME5
    FAT3    FLJ00046    ELTD1    ME2    ME6    FLJ00233
    ME1    ME3    DKFZp434P2350

    Find genes that share paralogs with CELSR3           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CELSR3 (see all 693)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1491325601,2
    C,Funtested148696750(+) TCCACG/AATCTG 2 /I syn11Minor allele frequency- A:0.01NA 4552
    rs67732611,2
    C,F,A,H--48675064(+) TGAGCA/GAGCCC 1 -- ut31 ese319Minor allele frequency- N:0.00EA NA NS WA CSA 976
    rs68092051,2
    C,F--48675159(+) AAGAAC/AAATTC 1 -- ut31 ese31Minor allele frequency- A:0.04WA 118
    rs1146311301,2
    C,F--48675351(+) AGCCTC/TAAACC 1 -- ut311Minor allele frequency- T:0.04WA 118
    rs1138628261,2
    F--48675420(+) AAAACG/ATATAA 1 -- ut311Minor allele frequency- A:0.50CSA 2
    rs1471080341,2
    C--48675603(+) CTGTCA/GCCCTC 1 -- ut310--------
    rs2002755111,2
    C--48675629(+) ACGCCA/GTCATC 1 -- ut310--------
    rs2019212181,2
    --48675676(+) GGCACA/GTGAGG 1 -- int10--------
    rs2015028231,2
    --48675704(+) CCAGAA/GGACTC 1 -- int10--------
    rs1148993271,2
    C,F--48675839(+) ATTCCG/ACGCCC 1 -- int11Minor allele frequency- A:0.03NA 120

    HapMap Linkage Disequilibrium report for CELSR3 (48673896 - 48700348 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for CELSR3:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv876762CNV Loss21882294
    nsv834685CNV Loss17160897
    nsv876763CNV Loss21882294
    nsv523981CNV Loss19592680
    nsv818138CNV Gain17921354
    nsv822075CNV Gain20364138

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CELSR3
    DNA2.0 Custom Variant and Variant Library Synthesis for CELSR3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604264    OMIM disorders: --


    Find genes that share disorders with CELSR3           About GenesLikeMe


    Export disorders for CELSR3 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CELSR3 gene, integrated from 10 sources (see all 17):
    (articles sorted by number of sources associating them with CELSR3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of high-molecular-weight proteins with multiple EGF- like motifs by motif-trap screening. (PubMed id 9693030)1, 2, 3 Nakayama M.... Ohara O. (Genomics 1998)
    2. Large exons encoding multiple ectodomains are a characteristic feature of protocadherin genes. (PubMed id 10716726)1, 2 Wu Q. and Maniatis T. (Proc. Natl. Acad. Sci. U.S.A. 2000)
    3. Mindbomb 1, an E3 ubiquitin ligase, forms a complex with RYK to activate Wnt/I^-catenin signaling. (PubMed id 21875946)1 Berndt J.D....Moon R.T. (J. Cell Biol. 2011)
    4. Organ-, inflammation- and cancer specific transcriptional fingerprints of pancreatic and hepatic stellate cells. (PubMed id 20416094)1 Erkan M....Kleeff J. (Mol. Cancer 2010)
    5. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (Proc. Natl. Acad. Sci. U.S.A. 2008)
    6. Opposing roles in neurite growth control by two seven-pass transmembrane cadherins. (PubMed id 17618280)1 Shima Y....Uemura T. (Nat. Neurosci. 2007)
    7. Systematic identification of SH3 domain-mediated human protein-protein interactions by peptide array target screening. (PubMed id 17474147)1 Wu C....Li S.S. (Proteomics 2007)
    8. The DNA sequence, annotation and analysis of human chromosome 3. (PubMed id 16641997)2 Muzny D.M....Gibbs R.A. (Nature 2006)
    9. A human protein-protein interaction network: a resource for annotating the proteome. (PubMed id 16169070)1 Stelzl U.... Wanker E.E. (Cell 2005)
    10. WNT/PCP signaling pathway and human cancer (review). (PubMed id 16273260)1 Katoh M. (Oncol. Rep. 2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 1951 HGNC: 3230 AceView: UQCRC1 Ensembl:ENSG00000008300 euGenes: HUgn1951
    ECgene: CELSR3 H-InvDB: CELSR3

    (According to HUGE)
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    HUGE: KIAA0812

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CELSR3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CELSR3 gene:
    Search GeneIP for patents involving CELSR3

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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