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    ROR2 receptor tyrosine kinase like orphan receptor 2 [ Homo sapiens (human) ]

    Gene ID: 4920, updated on 25-Sep-2016
    Official Symbol
    ROR2provided by HGNC
    Official Full Name
    receptor tyrosine kinase like orphan receptor 2provided by HGNC
    Primary source
    HGNC:HGNC:10257
    See related
    Ensembl:ENSG00000169071 HPRD:03822; MIM:602337; Vega:OTTHUMG00000020211
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BDB; BDB1; NTRKR2
    Summary
    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]
    Orthologs
    Location:
    9q22
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 9 NC_000009.12 (91722596..91950206, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (94484878..94712444, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene microRNA 3910-1 Neighboring gene microRNA 3910-2 Neighboring gene uncharacterized LOC105376147 Neighboring gene uncharacterized LOC101927935 Neighboring gene uncharacterized LOC105376148 Neighboring gene uncharacterized LOC107987094

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Brachydactyly type B1
    MedGen: C1862112 OMIM: 113000 GeneReviews: Not available
    Compare labs
    Robinow syndrome, autosomal recessive
    MedGen: C1849334 OMIM: 268310 GeneReviews: ROR2-Related Robinow Syndrome
    Compare labs

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated (2013-03-27)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated (2013-03-27)

    ClinGen Genome Curation Page

    NHGRI GWAS Catalog

    Description
    Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.
    NHGRI GWA Catalog
    • Beta-catenin independent WNT signaling, organism-specific biosystem (from REACTOME)
      Beta-catenin independent WNT signaling, organism-specific biosystemHumans and mice have 19 identified WNT proteins that were originally classified as either 'canonical' or 'non-canonical' depending upon whether they were able to transform the mouse mammary epithelia...
    • Cardiac Progenitor Differentiation, organism-specific biosystem (from WikiPathways)
      Cardiac Progenitor Differentiation, organism-specific biosystemFactors involved in the induction of cardiac differentiation in vitro and in vivo. This model was based on the below two review articles.
    • Noncanonical Wnt signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
      Noncanonical Wnt signaling pathway, organism-specific biosystem
      Noncanonical Wnt signaling pathway
    • PCP/CE pathway, organism-specific biosystem (from REACTOME)
      PCP/CE pathway, organism-specific biosystemThe planar cell polarity (PCP) pathway controls the establishment of polarity within the plane of a sheet of cells. PCP was initially characterized in Drosophila, where it controls the arrangement o...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by Wnt, organism-specific biosystem (from REACTOME)
      Signaling by Wnt, organism-specific biosystemWNT signaling pathways control a wide range of developmental and adult process in metozoans including cell proliferation, cell fate decisions, cell polarity and stem cell maintenance (reviewed in Sai...
    • WNT5A-dependent internalization of FZD2, FZD5 and ROR2, organism-specific biosystem (from REACTOME)
      WNT5A-dependent internalization of FZD2, FZD5 and ROR2, organism-specific biosystemInternalization of FZD2, FZD5 and ROR2 after WNT5A binding is thought to occur in a clathrin-dependent manner and is required for the activation of RAC signaling (Kurayoshi et al, 2007; Sato et al, 2...
    • Wnt Signaling Pathway NetPath, organism-specific biosystem (from WikiPathways)
      Wnt Signaling Pathway NetPath, organism-specific biosystemWnt family of proteins are a large family of cysteine-rich secreted glycoproteins that regulate cell-cell interactions. They bind to members of the Frizzled family of 7 transmembrane receptors. Bindi...
    • Wnt signaling network, organism-specific biosystem (from Pathway Interaction Database)
      Wnt signaling network, organism-specific biosystem
      Wnt signaling network
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC163394

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    Wnt-protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    coreceptor activity involved in Wnt signaling pathway, planar cell polarity pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    frizzled binding IEA
    Inferred from Electronic Annotation
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    transmembrane receptor protein tyrosine kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    BMP signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    JNK cascade IEA
    Inferred from Electronic Annotation
    more info
     
    SMAD protein signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    Wnt signaling pathway, calcium modulating pathway IEA
    Inferred from Electronic Annotation
    more info
     
    Wnt signaling pathway, planar cell polarity pathway TAS
    Traceable Author Statement
    more info
     
    cartilage condensation IEA
    Inferred from Electronic Annotation
    more info
     
    cell fate commitment IEA
    Inferred from Electronic Annotation
    more info
     
    embryonic digit morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    embryonic genitalia morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    inner ear morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    multicellular organism development TAS
    Traceable Author Statement
    more info
    PubMed 
    negative regulation of canonical Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    peptidyl-tyrosine phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of canonical Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of cell migration IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    smoothened signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    somitogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    transmembrane receptor protein tyrosine kinase signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    clathrin-coated endocytic vesicle membrane TAS
    Traceable Author Statement
    more info
     
    integral component of plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    tyrosine-protein kinase transmembrane receptor ROR2
    Names
    neurotrophic tyrosine kinase receptor-related 2
    NP_001305133.1
    NP_004551.2

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008089.1 RefSeqGene

      Range
      5001..232567
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001318204.1NP_001305133.1  tyrosine-protein kinase transmembrane receptor ROR2 isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the penultimate exon and its 3' terminal exon extends past a splice site used in variant 1. This results in a novel 3' coding region and 3' UTR, compared to variant 1. It encodes isoform 2 which is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AL583841, BC051273, M97639
      UniProtKB/Swiss-Prot
      Q01974
      Conserved Domains (4) summary
      cd07468
      Location:170309
      CRD_TK_ROR2; Cysteine-rich domain of tyrosine kinase-like orphan receptor 2
      smart00408
      Location:75141
      IGc2; Immunoglobulin C-2 Type
      smart00130
      Location:314394
      KR; Kringle domain
      pfam07679
      Location:64152
      I-set; Immunoglobulin I-set domain
    2. NM_004560.3NP_004551.2  tyrosine-protein kinase transmembrane receptor ROR2 isoform 1 precursor

      See identical proteins and their annotated locations for NP_004551.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AA463746, BI089313, BQ446244, M97639
      Consensus CDS
      CCDS6691.1
      UniProtKB/Swiss-Prot
      Q01974
      Related
      ENSP00000364860, OTTHUMP00000021634, ENST00000375708, OTTHUMT00000053040
      Conserved Domains (6) summary
      cd07468
      Location:170309
      CRD_TK_ROR2; Cysteine-rich domain of tyrosine kinase-like orphan receptor 2
      smart00408
      Location:75141
      IGc2; Immunoglobulin C-2 Type
      smart00130
      Location:314395
      KR; Kringle domain
      pfam07679
      Location:64152
      I-set; Immunoglobulin I-set domain
      cd05091
      Location:466749
      PTKc_Ror2; Catalytic domain of the Protein Tyrosine Kinase, Receptor tyrosine kinase-like Orphan Receptor 2
      pfam07714
      Location:473746
      Pkinase_Tyr; Protein tyrosine kinase

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p7 Primary Assembly

      Range
      91722596..91950206 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017014763.1XP_016870252.1  

      Conserved Domains (4) summary
      cd07468
      Location:30169
      CRD_TK_ROR2; Cysteine-rich domain of tyrosine kinase-like orphan receptor 2
      smart00130
      Location:174255
      KR; Kringle domain
      cd05091
      Location:326609
      PTKc_Ror2; Catalytic domain of the Protein Tyrosine Kinase, Receptor tyrosine kinase-like Orphan Receptor 2
      pfam07714
      Location:333606
      Pkinase_Tyr; Protein tyrosine kinase
    2. XM_005252008.4XP_005252065.1  

      See identical proteins and their annotated locations for XP_005252065.1

      Conserved Domains (4) summary
      cd07468
      Location:30169
      CRD_TK_ROR2; Cysteine-rich domain of tyrosine kinase-like orphan receptor 2
      smart00130
      Location:174255
      KR; Kringle domain
      cd05091
      Location:326609
      PTKc_Ror2; Catalytic domain of the Protein Tyrosine Kinase, Receptor tyrosine kinase-like Orphan Receptor 2
      pfam07714
      Location:333606
      Pkinase_Tyr; Protein tyrosine kinase
    3. XM_017014762.1XP_016870251.1  

    4. XM_006717121.3XP_006717184.1  

      See identical proteins and their annotated locations for XP_006717184.1

      Conserved Domains (4) summary
      cd07468
      Location:30169
      CRD_TK_ROR2; Cysteine-rich domain of tyrosine kinase-like orphan receptor 2
      smart00130
      Location:174255
      KR; Kringle domain
      cd05091
      Location:326609
      PTKc_Ror2; Catalytic domain of the Protein Tyrosine Kinase, Receptor tyrosine kinase-like Orphan Receptor 2
      pfam07714
      Location:333606
      Pkinase_Tyr; Protein tyrosine kinase
    5. XM_005252009.3XP_005252066.1  

      Conserved Domains (2) summary
      cd05091
      Location:65348
      PTKc_Ror2; Catalytic domain of the Protein Tyrosine Kinase, Receptor tyrosine kinase-like Orphan Receptor 2
      pfam07714
      Location:72345
      Pkinase_Tyr; Protein tyrosine kinase

    RNA

    1. XR_001746315.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018920.2 Alternate CHM1_1.1

      Range
      94631872..94858883 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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