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

Gene ID: 4920, updated on 3-May-2020

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
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

Genomic context

See ROR2 in Genome Data Viewer
Location:
9q22.31
Exon count:
13
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (91722598..91950228, 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 Sharpr-MPRA regulatory region 1031 Neighboring gene Sharpr-MPRA regulatory region 9366 Neighboring gene uncharacterized LOC105376148

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
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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
mitogen-activated protein kinase kinase kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transmembrane receptor protein tyrosine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
anatomical structure development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
astrocyte development IEA
Inferred from Electronic Annotation
more info
 
bone mineralization IEA
Inferred from Electronic Annotation
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
 
macrophage migration IEA
Inferred from Electronic Annotation
more info
 
male genitalia development IEA
Inferred from Electronic Annotation
more info
 
multicellular organism development IBA
Inferred from Biological aspect of Ancestor
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 
nervous system development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
peptidyl-tyrosine phosphorylation IEA
Inferred from Electronic Annotation
more info
 
NOT positive regulation of ERK1 and ERK2 cascade IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of JUN kinase activity IEA
Inferred from Electronic Annotation
more info
 
positive regulation of MAPK cascade IBA
Inferred from Biological aspect of Ancestor
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 kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of macrophage differentiation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of neuron projection development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of phosphatidylinositol 3-kinase signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of protein kinase C activity IEA
Inferred from Electronic Annotation
more info
 
positive regulation of synaptic transmission, glutamatergic IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
regulation of MAPK cascade IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
axon IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell surface IEA
Inferred from Electronic Annotation
more info
 
clathrin-coated endocytic vesicle membrane TAS
Traceable Author Statement
more info
 
dendrite IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
microtubule IEA
Inferred from Electronic Annotation
more info
 
neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

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_016870252.1

NCBI Reference Sequences (RefSeq)

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
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    91722598..91950228 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017014763.1XP_016870252.1  tyrosine-protein kinase transmembrane receptor ROR2 isoform X2

    Related
    ENST00000550066.5
    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  tyrosine-protein kinase transmembrane receptor ROR2 isoform X2

    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  tyrosine-protein kinase transmembrane receptor ROR2 isoform X1

  4. XM_006717121.3XP_006717184.1  tyrosine-protein kinase transmembrane receptor ROR2 isoform X2

    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  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

RNA

  1. XR_001746315.1 RNA Sequence

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