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

Gene ID: 4920, updated on 19-Jul-2014
Official Symbol
ROR2provided by HGNC
Official Full Name
receptor tyrosine kinase-like orphan receptor 2provided by HGNC
Primary source
HGNC:10257
Locus tag
RP11-8I8.2
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]
See ROR2 in Epigenomics, MapViewer
Location:
9q22
Exon count:
11
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 9 NC_000009.12 (91722596..91950162, 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 phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase pseudogene 2 Neighboring gene microRNA 3910-1 Neighboring gene microRNA 3910-2 Neighboring gene uncharacterized LOC101927935 Neighboring gene ribosomal protein L21 pseudogene 82 Neighboring gene heat shock 10kDa protein 1 pseudogene 22

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)

ISCA Genome Curation Page
Triplosensitivity

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

ISCA 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
  • 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
  • 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...
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 
frizzled binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
 
transmembrane receptor protein tyrosine kinase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
JNK cascade 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 IEA
Inferred from Electronic Annotation
more info
 
cartilage condensation IEA
Inferred from Electronic Annotation
more info
 
cell differentiation 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 organismal 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
 
peptidyl-tyrosine phosphorylation TAS
Traceable Author Statement
more info
PubMed 
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 
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
tyrosine-protein kinase transmembrane receptor ROR2
neurotrophic tyrosine kinase receptor-related 2
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 

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

mRNA and Protein(s)

  1. NM_004560.3NP_004551.2  tyrosine-protein kinase transmembrane receptor ROR2 precursor

    See proteins identical to NP_004551.2

    Status: REVIEWED

    Source sequence(s)
    AA463746, BI089313, BQ446244, M97639
    Consensus CDS
    CCDS6691.1
    UniProtKB/Swiss-Prot
    Q01974
    Related
    ENSP00000364860, OTTHUMP00000021634, ENST00000375708, OTTHUMT00000053040
    Conserved Domains (6) summary
    cd00096
    Location:79147
    Blast Score: 168
    Ig; Immunoglobulin domain
    cd07468
    Location:170309
    Blast Score: 812
    CRD_TK_ROR2; Cysteine-rich domain of tyrosine kinase-like orphan receptor 2
    cd00108
    Location:314395
    Blast Score: 374
    KR; Kringle domain; Kringle domains are believed to play a role in binding mediators, such as peptides, other proteins, membranes, or phospholipids. They are autonomous structural domains, found in a varying number of copies, in blood clotting and ...
    pfam07679
    Location:64152
    Blast Score: 212
    I-set; Immunoglobulin I-set domain
    pfam07714
    Location:473746
    Blast Score: 991
    Pkinase_Tyr; Protein tyrosine kinase
    cl09925
    Location:467749
    Blast Score: 1677
    PKc_like; Protein Kinases, catalytic domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000009.12 

    Range
    91722596..91950162
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005252008.2XP_005252065.1  

    See proteins identical to XP_005252065.1

    Conserved Domains (4) summary
    cd07468
    Location:30169
    Blast Score: 811
    CRD_TK_ROR2; Cysteine-rich domain of tyrosine kinase-like orphan receptor 2
    cd00108
    Location:174255
    Blast Score: 374
    KR; Kringle domain; Kringle domains are believed to play a role in binding mediators, such as peptides, other proteins, membranes, or phospholipids. They are autonomous structural domains, found in a varying number of copies, in blood clotting and ...
    pfam07714
    Location:333606
    Blast Score: 987
    Pkinase_Tyr; Protein tyrosine kinase
    cl09925
    Location:327609
    Blast Score: 1677
    PKc_like; Protein Kinases, catalytic domain
  2. XM_006717121.1XP_006717184.1  

    See proteins identical to XP_006717184.1

    Conserved Domains (4) summary
    cd07468
    Location:30169
    Blast Score: 811
    CRD_TK_ROR2; Cysteine-rich domain of tyrosine kinase-like orphan receptor 2
    cd00108
    Location:174255
    Blast Score: 374
    KR; Kringle domain; Kringle domains are believed to play a role in binding mediators, such as peptides, other proteins, membranes, or phospholipids. They are autonomous structural domains, found in a varying number of copies, in blood clotting and ...
    pfam07714
    Location:333606
    Blast Score: 987
    Pkinase_Tyr; Protein tyrosine kinase
    cl09925
    Location:327609
    Blast Score: 1677
    PKc_like; Protein Kinases, catalytic domain
  3. XM_005252009.2XP_005252066.1  

    Conserved Domains (2) summary
    pfam07714
    Location:72345
    Blast Score: 985
    Pkinase_Tyr; Protein tyrosine kinase
    cl09925
    Location:66348
    Blast Score: 1677
    PKc_like; Protein Kinases, catalytic domain

Alternate HuRef

Genomic

  1. AC_000141.1 

    Range
    64163034..64390111
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018920.2 

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