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

    Gene ID: 4920, updated on 17-Jun-2024

    Summary

    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 MIM:602337; AllianceGenome:HGNC:10257
    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]
    Expression
    Broad expression in endometrium (RPKM 5.4), gall bladder (RPKM 3.7) and 18 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ROR2 in Genome Data Viewer
    Location:
    9q22.31
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (91722601..91950228, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (103889331..104116677, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (94484883..94712510, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase pseudogene 2 Neighboring gene microRNA 3910-1 Neighboring gene microRNA 3910-2 Neighboring gene NANOG hESC enhancer GRCh37_chr9:94455452-94456013 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20027 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_109450 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:94544427-94544926 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:94561969-94562469 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:94605877-94606451 Neighboring gene uncharacterized LOC124902210 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:94619147-94619806 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:94619807-94620466 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:94647759-94648342 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:94648343-94648926 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:94648927-94649508 Neighboring gene NANOG hESC enhancer GRCh37_chr9:94656806-94657388 Neighboring gene H3K4me1 hESC enhancers GRCh37_chr9:94660754-94661368 and GRCh37_chr9:94661369-94661982 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:94667938-94668501 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr9:94670331-94670937 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:94683071-94683911 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr9:94683912-94684752 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:94696982-94697815 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr9:94702261-94702775 Neighboring gene NANOG hESC enhancer GRCh37_chr9:94707493-94707994 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:94711301-94711802 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:94711803-94712302 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20028 Neighboring gene Sharpr-MPRA regulatory region 183 Neighboring gene Sharpr-MPRA regulatory region 9366 Neighboring gene uncharacterized LOC105376148 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_109489 Neighboring gene uncharacterized LOC107987094

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Autosomal recessive Robinow syndrome
    MedGen: C5399974 OMIM: 268310 GeneReviews: ROR2-Related Robinow Syndrome
    Compare labs
    Brachydactyly type B1
    MedGen: C1862112 OMIM: 113000 GeneReviews: Not available
    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

    EBI 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.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC163394

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables Wnt-protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables Wnt-protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables coreceptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables mitogen-activated protein kinase kinase kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transmembrane receptor protein tyrosine kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    involved_in Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in astrocyte development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in bone mineralization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell surface receptor protein tyrosine kinase signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cell surface receptor protein tyrosine kinase signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in macrophage migration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in male genitalia development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in multicellular organism development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    NOT involved_in positive regulation of ERK1 and ERK2 cascade IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of cell migration IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of macrophage differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of neuron projection development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of synaptic transmission, glutamatergic IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of postsynapse organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of synaptic signaling by nitric oxide IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cell surface IEA
    Inferred from Electronic Annotation
    more info
     
    located_in clathrin-coated endocytic vesicle membrane TAS
    Traceable Author Statement
    more info
     
    located_in dendrite IEA
    Inferred from Electronic Annotation
    more info
     
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    located_in microtubule IEA
    Inferred from Electronic Annotation
    more info
     
    located_in neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in postsynapse IEA
    Inferred from Electronic Annotation
    more info
     
    part_of receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    tyrosine-protein kinase transmembrane receptor ROR2
    Names
    neurotrophic tyrosine kinase receptor-related 2
    NP_001305133.1
    NP_004551.2
    XP_005252065.1
    XP_005252066.1
    XP_006717184.1
    XP_016870251.1
    XP_047279390.1
    XP_047279391.1
    XP_047279392.1
    XP_047279393.1
    XP_054219004.1
    XP_054219005.1
    XP_054219006.1
    XP_054219007.1
    XP_054219008.1
    XP_054219009.1
    XP_054219010.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      4935..232562
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001318204.2NP_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)
      AL391219, 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_004560.4NP_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)
      AL391219, BI089313, BQ446244, M97639
      Consensus CDS
      CCDS6691.1
      UniProtKB/Swiss-Prot
      Q01974, Q59GF5, Q5SPI5, Q9HAY7, Q9HB61
      UniProtKB/TrEMBL
      A1L4F5
      Related
      ENSP00000364860.3, ENST00000375708.4
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      91722601..91950228 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005252008.5XP_005252065.1  tyrosine-protein kinase transmembrane receptor ROR2 isoform X2

      See identical proteins and their annotated locations for XP_005252065.1

      UniProtKB/TrEMBL
      A1L4F5
      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_047423436.1XP_047279392.1  tyrosine-protein kinase transmembrane receptor ROR2 isoform X2

      UniProtKB/TrEMBL
      A1L4F5
    3. XM_047423435.1XP_047279391.1  tyrosine-protein kinase transmembrane receptor ROR2 isoform X2

      UniProtKB/TrEMBL
      A1L4F5
      Related
      ENST00000550066.5
    4. XM_047423437.1XP_047279393.1  tyrosine-protein kinase transmembrane receptor ROR2 isoform X2

      UniProtKB/TrEMBL
      A1L4F5
    5. XM_047423434.1XP_047279390.1  tyrosine-protein kinase transmembrane receptor ROR2 isoform X2

      UniProtKB/TrEMBL
      A1L4F5
    6. XM_017014762.2XP_016870251.1  tyrosine-protein kinase transmembrane receptor ROR2 isoform X1

      UniProtKB/TrEMBL
      A1L4F5
    7. XM_006717121.4XP_006717184.1  tyrosine-protein kinase transmembrane receptor ROR2 isoform X2

      See identical proteins and their annotated locations for XP_006717184.1

      UniProtKB/TrEMBL
      A1L4F5
      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
    8. XM_005252009.4XP_005252066.1  tyrosine-protein kinase transmembrane receptor ROR2 isoform X3

      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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      103889331..104116677 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054363033.1XP_054219008.1  tyrosine-protein kinase transmembrane receptor ROR2 isoform X2

      UniProtKB/TrEMBL
      A1L4F5
    2. XM_054363032.1XP_054219007.1  tyrosine-protein kinase transmembrane receptor ROR2 isoform X2

      UniProtKB/TrEMBL
      A1L4F5
    3. XM_054363030.1XP_054219005.1  tyrosine-protein kinase transmembrane receptor ROR2 isoform X2

      UniProtKB/TrEMBL
      A1L4F5
    4. XM_054363031.1XP_054219006.1  tyrosine-protein kinase transmembrane receptor ROR2 isoform X2

      UniProtKB/TrEMBL
      A1L4F5
    5. XM_054363029.1XP_054219004.1  tyrosine-protein kinase transmembrane receptor ROR2 isoform X1

      UniProtKB/TrEMBL
      A1L4F5
    6. XM_054363034.1XP_054219009.1  tyrosine-protein kinase transmembrane receptor ROR2 isoform X2

      UniProtKB/TrEMBL
      A1L4F5
    7. XM_054363035.1XP_054219010.1  tyrosine-protein kinase transmembrane receptor ROR2 isoform X3