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ROR2 Gene

protein-coding   GIFtS: 68
GCID: GC09M094325

Receptor Tyrosine Kinase-Like Orphan Receptor 2


(Previous symbols: NTRKR2, BDB, BDB1)
  See related diseases
at  

(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
Receptor Tyrosine Kinase-Like Orphan Receptor 21 2     Neurotrophic Tyrosine Kinase Receptor-Related 22
NTRKR21 2 3 5     Tyrosine-Protein Kinase Transmembrane Receptor ROR22
BDB1 2 5     EC 2.7.10.13
BDB11 2 5     Neurotrophic Tyrosine Kinase, Receptor-Related 23

External Ids:    HGNC: 102571   Entrez Gene: 49202   Ensembl: ENSG000001690717   OMIM: 6023375   UniProtKB: Q019743   

Export aliases for ROR2 gene to outside databases

Previous GC identifers: GC09M085319 GC09M086212 GC09M087624 GC09M089826 GC09M091564 GC09M093365 GC09M093524 GC09M064163


(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 ROR2 Gene:
The protein encoded by this gene is a receptor protein tyrosine kinase and type I transmembrane protein that
belongs to the ROR subfamily of cell surface receptors. The protein may be involved in the early formation of the
chondrocytes and may be required for cartilage and growth plate development. Mutations in this gene can cause
brachydactyly type B, a skeletal disorder characterized by hypoplasia/aplasia of distal phalanges and nails. In
addition, mutations in this gene can cause the autosomal recessive form of Robinow syndrome, which is
characterized by skeletal dysplasia with generalized limb bone shortening, segmental defects of the spine,
brachydactyly, and a dysmorphic facial appearance. (provided by RefSeq, Jul 2008)

GeneCards Summary for ROR2 Gene:
ROR2 (receptor tyrosine kinase-like orphan receptor 2) is a protein-coding gene. Diseases associated with ROR2 include ror2-related robinow syndrome, and robinow syndrome, autosomal recessive. GO annotations related to this gene include Wnt-protein binding and frizzled binding. An important paralog of this gene is ROR1.

UniProtKB/Swiss-Prot: ROR2_HUMAN, Q01974
Function: Tyrosine-protein kinase receptor which may be involved in the early formation of the chondrocytes. It
seems to be required for cartilage and growth plate development. Phosphorylates YWHAB, leading to induction of
osteogenesis and bone formation

Gene Wiki entry for ROR2 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:
NC_000009.12  NT_008470.20  NC_018920.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ROR2 gene promoter:
         SRF   TBP   HFH-3   AP-1   ATF-2   C/EBPalpha   FOXI1   Chx10   c-Jun   TGIF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidROR2 promoter sequence
   Search Chromatin IP Primers for ROR2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ROR2


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

Entrez Gene cytogenetic band: 9q22   Ensembl cytogenetic band:  9q22.31   HGNC cytogenetic band: 9q22

ROR2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ROR2 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M094325:  view genomic region     (about GC identifiers)

Start:
94,325,373 bp from pter      End:
94,712,444 bp from pter
Size:
387,072 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: ROR2_HUMAN, Q01974 (See protein sequence)
Recommended Name: Tyrosine-protein kinase transmembrane receptor ROR2 precursor  
Size: 943 amino acids; 104757 Da
Subunit: Homodimer; promotes osteogenesis. Binds YWHAB. Interacts with WTIP (By similarity)
Developmental stage: Expressed at high levels during early embryonic development. The expression levels drop
strongly around day 16 and there are only very low levels in adult tissues
Sequence caution: Sequence=BAD92391.1; Type=Erroneous initiation;
2 PDB 3D structures from and Proteopedia for ROR2:
3ZZW (3D)        4GT4 (3D)    
Secondary accessions: Q59GF5 Q5SPI5 Q9HAY7 Q9HB61

Explore the universe of human proteins at neXtProt for ROR2: NX_Q01974

Explore proteomics data for ROR2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys489
  • Glycosylation2 at Asn70, Thr157, Asn188, Asn318
  • Modification sites at PhosphoSitePlus

  • See ROR2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_004551.2  
    ENSEMBL proteins: 
     ENSP00000364867   ENSP00000364860  
    Reactome Protein details: Q01974

    ROR2 Human Recombinant Protein Products:

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    ROR2 Assay Products:

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    Cloud-Clone Corp. ELISAs for ROR2
    Cloud-Clone Corp. CLIAs for ROR2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ISET: Immunoglobulin superfamily / I-set domain containing

    IUPHAR Guide to PHARMACOLOGY protein family classification: receptor tyrosine kinase-like orphan receptor 2
    Ror family
    ROR family and other RTKs

    Selected InterPro protein domains (see all 14):
     IPR003598 Ig_sub2
     IPR007110 Ig-like_dom
     IPR000001 Kringle
     IPR013806 Kringle-like
     IPR001245 Ser-Thr/Tyr_kinase_cat_dom

    Graphical View of Domain Structure for InterPro Entry Q01974

    ProtoNet protein and cluster: Q01974

    3 Blocks protein domains:
    IPB000001 Kringle
    IPB003598 Immunoglobulin C-2 type
    IPB008266 Tyrosine protein kinase


    UniProtKB/Swiss-Prot: ROR2_HUMAN, Q01974
    Similarity: Belongs to the protein kinase superfamily. Tyr protein kinase family. ROR subfamily
    Similarity: Contains 1 FZ (frizzled) domain
    Similarity: Contains 1 Ig-like C2-type (immunoglobulin-like) domain
    Similarity: Contains 1 kringle domain
    Similarity: Contains 1 protein kinase domain


    ROR2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ROR2_HUMAN, Q01974
    Function: Tyrosine-protein kinase receptor which may be involved in the early formation of the chondrocytes. It
    seems to be required for cartilage and growth plate development. Phosphorylates YWHAB, leading to induction of
    osteogenesis and bone formation
    Catalytic activity: ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate

         Enzyme Number (IUBMB): EC 2.7.10.11

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004672protein kinase activity ----
    GO:0004713protein tyrosine kinase activity ----
    GO:0004714transmembrane receptor protein tyrosine kinase activity IEA--
    GO:0005109frizzled binding IEA--
    GO:0005515protein binding IPI--
         
    ROR2 for ontologies           About GeneDecksing


    Phenotypes:
         5 GenomeRNAi human phenotypes for ROR2:
     Decreased substrate adherent c  Increased apoptosis  Increased cell death in breast  Increased mitotic index 
     Upregulation of Wnt/beta-caten 

         Selected MGI mutant phenotypes (inferred from 7 alleles(MGI details for Ror2) (see all 17):
     adipose tissue  cardiovascular system  cellular  craniofacial  digestive/alimentary 
     embryogenesis  endocrine/exocrine gland  growth/size/body  hearing/vestibular/ear  homeostasis/metabolism 
     limbs/digits/tail  mortality/aging  nervous system  reproductive system  respiratory system 

    ROR2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for ROR2: Ror2tm1.2Meg Ror2tm1Ymi

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ROR2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ROR2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ROR2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ROR2

    miRNA
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    miRTarBase miRNAs that target ROR2:
    hsa-mir-335-5p (MIRT016864), hsa-let-7f-5p (MIRT051386)

    Block miRNA regulation of human, mouse, rat ROR2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ROR2 (see all 15):
    hsa-miR-623 hsa-miR-922 hsa-miR-516b* hsa-miR-548aa hsa-miR-211 hsa-miR-338-5p hsa-miR-124 hsa-miR-548t
    SwitchGear 3'UTR luciferase reporter plasmidROR2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ROR2

    Gene Editing
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    Cell Line
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    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ROR2


    (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
    ROR2_HUMAN, Q01974: Cell membrane; Single-pass type I membrane protein (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytoskeleton1
    cytosol1
    endoplasmic reticulum1
    endosome1
    extracellular1
    nucleus1
    peroxisome1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane TAS1334494
    GO:0030669clathrin-coated endocytic vesicle membrane TAS--

    ROR2 for ontologies           About GeneDecksing


    (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 ROR2 About   (see all 17)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Wnt signaling pathway (KEGG)
    Wnt Signaling Pathways0.40
    Wnt Signaling Pathway NetPath0.37
    2GPCR Pathway
    Ras Pathway0.73
    Breast Cancer Regulation by Stathmin10.58
    Paxillin Interactions0.73
    NFAT in Immune Response0.58
    GPCR Pathway0.62
    Estrogen Pathway0.55
    Pancreatic Adenocarcinoma0.59
    P2Y Receptor Signaling0.38
    3ERK Signaling
    Rho Family GTPases0.61
    Molecular Mechanisms of Cancer0.51
    ERK Signaling0.61
    ILK Signaling0.49
    MAPK Signaling0.58
    4Nanog in Mammalian ESC Pluripotency
    Nanog in Mammalian ESC Pluripotency0.61
    14-3-3 Induced Intracellular Signaling0.59
    GSK3 Signaling0.61
    eNOS Signaling0.48
    5Actin Nucleation by ARP-WASP Complex
    Actin Nucleation and Branching0.66
    CDC42 Pathway0.41
    Actin Nucleation by ARP-WASP Complex0.66

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for ROR2
        Wnt Signaling Pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for ROR2 (see all 28)
        MAPK Signaling
    Paxillin Interactions
    Endothelin-1 Signaling Pathway
    Molecular Mechanisms of Cancer
    Intracellular Calcium Signaling

    1 Cell Signaling Technology (CST) Pathway for ROR2
        Tyrosine Kinases / Adaptors

    4 BioSystems Pathways for ROR2
        Cardiac Progenitor Differentiation
    Wnt Signaling Pathway NetPath
    Wnt signaling network
    Noncanonical Wnt signaling pathway

    2 Reactome Pathways for ROR2
        PCP/CE pathway
    WNT5A-dependent internalization of FZD2, FZD5 and ROR2



    ROR2 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ROR2
    Interactions:

        GeneGlobe Interaction Network for ROR2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

    Selected Interacting proteins for ROR2 (Q019741, 3 ENSP000003648604) via UniProtKB, MINT, STRING, and/or I2D (see all 18)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAGED1Q9Y5V33, ENSP000003648474I2D: score=3 STRING: ENSP00000364847
    FZD5Q134673, ENSP000003546074I2D: score=1 STRING: ENSP00000354607
    FZD2Q143323, ENSP000003239014I2D: score=3 STRING: ENSP00000323901
    WNT5AP412213, ENSP000002646344I2D: score=2 STRING: ENSP00000264634
    IKBKGQ9Y6K93, ENSP000003586224I2D: score=1 STRING: ENSP00000358622
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    Gene Ontology (GO): Selected biological process terms (see all 19):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001501skeletal system development ----
    GO:0001502cartilage condensation IEA--
    GO:0001756somitogenesis IEA--
    GO:0006468protein phosphorylation ----
    GO:0007165signal transduction TAS1334494

    ROR2 for ontologies           About GeneDecksing



    (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 ROR2

    2 HMDB Compounds for ROR2    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--

    1 Novoseek inferred chemical compound relationship for ROR2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 65.7 54 15375164 (6), 10932186 (3), 10700182 (2), 19802008 (2) (see all 25)



    ROR2 for compounds           About GeneDecksing



    (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,
    Conferences by KenesGroup, 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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ROR2 gene: 
    NM_004560.3  

    Unigene Cluster for ROR2:

    Receptor tyrosine kinase-like orphan receptor 2
    Hs.98255  [show with all ESTs]
    Unigene Representative Sequence: AB209154
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000375715(uc004ari.1) ENST00000375708(uc004arj.2 uc004ark.3)
    ENST00000550066 ENST00000548585 ENST00000495386 ENST00000546883 ENST00000476440
    ENST00000493846
    miRNA
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    hsa-miR-623 hsa-miR-922 hsa-miR-516b* hsa-miR-548aa hsa-miR-211 hsa-miR-338-5p hsa-miR-124 hsa-miR-548t
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      QuantiFast Probe-based Assays in human, mouse, rat ROR2

    Additional mRNA sequence: 

    AB209154.1 BC033697.1 BC051273.1 BC126454.1 BC130522.1 M97639.1 

    5 DOTS entries:

    DT.451719  DT.97814488  DT.95287749  DT.315333  DT.75123731 

    Selected AceView cDNA sequences (see all 79):

    BX342447 BF446336 BI755277 AI420252 NM_004560 AI375643 BU631248 CK906271 
    BQ446244 AA256549 BM127703 AA447962 AA913274 BC051273 BQ674791 AI160022 
    CF242805 AA586900 AA024845 AA769800 W95347 N94921 BV206197 AI273698 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for ROR2    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14a · 14b ^ 15
    SP1:                                                                                                        -                     
    SP2:                          -     -     -     -                                                           -           -         
    SP3:              -     -     -     -     -     -                                                           -                     
    SP4:              -     -     -     -     -     -                                               -                                 
    SP5:                                -     -                                                                                       


    ECgene alternative splicing isoforms for ROR2

    (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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    ROR2 expression in normal human tissues (normalized intensities)      ROR2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    ROR2 Expression
    About this image


    ROR2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Tooth (Integumentary System)    fully expand to see all 3 entries
             Inner Enamel Epithelial Cells Dental Enamel
     
     Epithelial Cells
             Inner Enamel Epithelial Cells Dental Enamel
     
     Primitive Streak (Early Embryonic Tissues)    fully expand to see all 2 entries
             Primitive streak-like cells
     
     Neural Crest (Gastrulation Derivatives)
             PureStem MEL2, NCr-fac Progenitor
     
     Fibroblasts
             Detroit 551
    ROR2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ROR2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.98255
        Custom PCR Arrays for ROR2
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ROR2

    (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 ROR2 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ror21 , 5 receptor tyrosine kinase-like orphan receptor 21, 5 87.52(n)1
    92.47(a)1
      13 (27.68 cM)5
    265641  NM_013846.31  NP_038874.31 
     531093125 
    chicken
    (Gallus gallus)
    Aves ROR21 receptor tyrosine kinase-like orphan receptor 2 76.31(n)
    87.62(a)
      769516  NM_001080716.1  NP_001074185.1 
    lizard
    (Anolis carolinensis)
    Reptilia ROR26
    receptor tyrosine kinase-like orphan receptor 2
    83(a)
    1 ↔ 1
    2(31662494-31753920)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xror22 receptor tyrosine kinase Xror2 75.13(n)    AB087137.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.161092 Transcribed sequence with weak similarity to protein more 78.59(n)    BI888446.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Ror3 central nervous system development
    transmembrane more
    39(a)   31B4   --
    worm
    (Caenorhabditis elegans)
    Secernentea cam-11 cam-1 46.82(n)
    40.17(a)
      174473  NM_001026736.4  NP_001021907.1 


    ENSEMBL Gene Tree for ROR2 (if available)
    TreeFam Gene Tree for ROR2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ROR2 gene
    ROR12  INSR2  ROS12  NTRK22  LTK2  IGF1R2  DDR12  NTRK32  
    INSRR2  DDR22  MUSK2  ALK2  NTRK12  
    13 SIMAP similar genes for ROR2 using alignment to 3 protein entries:     ROR2_HUMAN (see all proteins):
    ROR1    ABL1    EPHA2    FGR    PLG    MUSK
    SRC    DKFZp434L0319    tec    APOA    urf-ret    LPAL2
    FGFR3

    ROR2 for paralogs           About GeneDecksing



    (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 ROR2 (see all 5296)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0107684
    Robinow syndrome autosomal recessive (RRS)4--see VAR_0107682 R C mis40--------
    VAR_0107714
    Robinow syndrome autosomal recessive (RRS)4--see VAR_0107712 N K mis40--------
    VAR_0107704
    Robinow syndrome autosomal recessive (RRS)4--see VAR_0107702 R W mis40--------
    VAR_0107694
    Robinow syndrome autosomal recessive (RRS)4--see VAR_0107692 R W mis40--------
    VAR_0417914
    A colorectal adenocarcinoma sample4--see VAR_0417912 V M mis40--------
    VAR_0109114
    Robinow syndrome autosomal recessive (RRS)4--see VAR_0109112 C Y mis40--------
    rs1048941211,2
    Cpathogenic194505286(-) GCCTGA/GGGCAA 2 * W stg10--------
    rs1048941221,2
    Cpathogenic194505287(-) AGCCTA/GGGGCA 2 * W stg10--------
    rs1405819551,2
    C--64163925(+) GGCAG-/CTCT  
            
    CTGTG
    1 -- ut310--------
    rs769541581,2
    C--64163927(+) CAGCT-/CTCT  
            
    GTGTC
    1 -- ut310--------

    HapMap Linkage Disequilibrium report for ROR2 (94325373 - 94575373 bp, first 250kb of ROR2)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for ROR2 (see all 18):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2433329CNV Deletion19546169
    dgv1320e201CNV Deletion23290073
    esv1005607CNV Deletion20482838
    esv1763164CNV Deletion17803354
    esv2738769CNV Deletion23290073
    esv2666509CNV Deletion23128226
    esv2674278CNV Deletion23128226
    esv2663538CNV Deletion23128226
    nsv6613CNV Insertion18451855
    nsv512108CNV Loss21212237

    Human Gene Mutation Database (HGMD): ROR2
    Locus Specific Mutation Databases (LSDB): ROR2

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ROR2
    DNA2.0 Custom Variant and Variant Library Synthesis for ROR2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602337   
    OMIM disorders: 113000  268310  
    UniProtKB/Swiss-Prot: ROR2_HUMAN, Q01974
  • Brachydactyly B1 (BDB1) [MIM:113000]: A form of brachydactyly. Brachydactyly defines a group of inherited
    malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the
    metacarpals. In brachydactyly type B1 the middle phalanges are short but in addition the terminal phalanges are
    rudimentary or absent. Both fingers and toes are affected. The thumbs and big toes are usually deformed.
    Symphalangism is also a feature. Note=The disease is caused by mutations affecting the gene represented in this
    entry
  • Robinow syndrome autosomal recessive (RRS) [MIM:268310]: A recessive form of Robinow syndrome, a disease
    characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and
    external genitalia. The clinical signs are generally far more severe in recessive cases, particularly skeletal
    abnormalities. All patients with the recessive form suffer from vertebral segmentation abnormalities, resulting
    in scoliosis and chest deformities. Rib fusions are considered to be characteristic of the autosomal recessive
    form. Patients can also present brachydactyly, with extensive aplasia/hypoplasia of the phalanges and
    metacarpals/metatarsals, and brachy-syn-polydactyly of the hands and oligodactyly of the feet. Note=The disease
    is caused by mutations affecting the gene represented in this entry

  • Selected diseases for ROR2 (see all 41):    About MalaCards
    ror2-related robinow syndrome    robinow syndrome, autosomal recessive    robinow syndrome    brachydactyly, type b1
    brachydactyly type b    ror2-related disorders    robinow syndrome, autosomal dominant    brachydactyly
    nevoid basal cell carcinoma syndrome    skeletal dysplasias    basal cell carcinoma    syndactyly
    short stature    dwarfism    polydactyly    leiomyosarcoma
    noma    seminoma    was-related disorders    cleft palate

    2 diseases from the University of Copenhagen DISEASES database for ROR2:
    Brachydactyly     Syndactyly

    ROR2 for disorders           About GeneDecksing

    8 Novoseek inferred disease relationships for ROR2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    brachydactyly, type b 98.4 23 17061261 (2), 19640924 (2), 10932186 (2), 19461659 (2) (see all 15)
    robinow syndrome, autosomal recessive 97.5 8 19236432 (1), 15952209 (1), 17665217 (1), 19461659 (1) (see all 6)
    robinow syndrome 96.3 15 17665217 (3), 17061261 (2), 19640924 (2), 18831060 (2) (see all 10)
    brachydactyly 88.2 7 12919145 (1), 19236432 (1), 19640924 (1), 15952209 (1) (see all 7)
    symphalangism, proximal 87.7 1 11932993 (1)
    nevoid basal cell carcinoma syndrome 68.6 1 12548386 (1)
    short stature 51.9 2 15952209 (1), 16446976 (1)
    tumors 0 4 19561643 (1), 20185829 (1), 19448672 (1)

    GeneTests: ROR2
    GeneReviews: ROR2
    Genetic Association Database (GAD): ROR2
    Human Genome Epidemiology (HuGE) Navigator: ROR2 (20 documents)

    Export disorders for ROR2 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 ROR2 gene, integrated from 10 sources (see all 106):
    (articles sorted by number of sources associating them with ROR2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B. (PubMed id 10700182)1, 2, 3, 9 Oldridge M.... Wilkie A.O.M. (Nat. Genet. 2000)
    2. A novel family of cell surface receptors with tyrosine kinase-like domain. (PubMed id 1334494)1, 2, 3 Masiakowski P. and Carroll R.D. (J. Biol. Chem. 1992)
    3. Homodimerization of Ror2 tyrosine kinase receptor induces 14-3- 3(beta) phosphorylation and promotes osteoblast differentiation and bone formation. (PubMed id 17717073)1, 2, 9 Liu Y.... Billiard J. (Mol. Endocrinol. 2007)
    4. Family-based association study of ROR2 polymorphisms with an array of radiographic hand bone strength phenotypes. (PubMed id 17619808)1, 4, 9 Ermakov S....Livshits G. (Osteoporos Int 2007)
    5. Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2. (PubMed id 10932186)1, 2, 9 Afzal A.R.... Jeffery S. (Nat. Genet. 2000)
    6. Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome. (PubMed id 10932187)1, 2, 9 van Bokhoven H.... Brunner H.G. (Nat. Genet. 2000)
    7. Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B. (PubMed id 10986040)1, 2, 9 Schwabe G.C....Mundlos S. (Am. J. Hum. Genet. 2000)
    8. Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PubMed id 20198315)1, 4 Yoshida T....Yamada Y. (Int. J. Mol. Med. 2010)
    9. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PubMed id 19851296)1, 4 Oguri M....Yamada Y. (Am. J. Hypertens. 2010)
    10. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1, 4 Jugessur A....Murray J.C. (PLoS ONE 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 4920 HGNC: 10257 AceView: ROR2 Ensembl:ENSG00000169071 euGenes: HUgn4920
    ECgene: ROR2 H-InvDB: ROR2

    (According to HUGE)
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      --

    (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 ROR2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ROR2 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ROR2[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ROR2 gene:
    Search GeneIP for patents involving ROR2

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



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