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Aliases for ROR2 Gene

Aliases for ROR2 Gene

  • Receptor Tyrosine Kinase-Like Orphan Receptor 2 2 3
  • NTRKR2 3 4 6
  • BDB1 3 6
  • BDB 3 6
  • Tyrosine-Protein Kinase Transmembrane Receptor ROR2 3
  • Neurotrophic Tyrosine Kinase, Receptor-Related 2 4
  • Neurotrophic Tyrosine Kinase Receptor-Related 2 3
  • EC 2.7.10.1 4

External Ids for ROR2 Gene

Previous Symbols for ROR2 Gene

  • NTRKR2
  • BDB
  • BDB1

Summaries for ROR2 Gene

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 robinow syndrome, autosomal recessive and ror2-related robinow syndrome. Among its related pathways are GPCR Pathway and Signaling by GPCR. GO annotations related to this gene include frizzled binding and Wnt-protein binding. An important paralog of this gene is ALK.

UniProtKB/Swiss-Prot for ROR2 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ROR2 Gene

Genomics for ROR2 Gene

Genomic Location for ROR2 Gene

Start:
91,563,091 bp from pter
End:
91,950,162 bp from pter
Size:
387,072 bases
Orientation:
Minus strand

Genomic View for ROR2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ROR2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ROR2 Gene

Regulatory Elements for ROR2 Gene

Proteins for ROR2 Gene

  • Protein details for ROR2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q01974-ROR2_HUMAN
    Recommended name:
    Tyrosine-protein kinase transmembrane receptor ROR2
    Protein Accession:
    Q01974
    Secondary Accessions:
    • Q59GF5
    • Q5SPI5
    • Q9HAY7
    • Q9HB61

    Protein attributes for ROR2 Gene

    Size:
    943 amino acids
    Molecular mass:
    104757 Da
    Quaternary structure:
    • Homodimer; promotes osteogenesis. Binds YWHAB. Interacts with WTIP (By similarity).
    SequenceCaution:
    • Sequence=BAD92391.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ROR2 Gene

neXtProt entry for ROR2 Gene

Proteomics data for ROR2 Gene at MOPED

Post-translational modifications for ROR2 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys489
  • Glycosylation at Asn70, Thr157, Asn188, and Asn318

Other Protein References for ROR2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for ROR2 Gene

Domains for ROR2 Gene

Gene Families for ROR2 Gene

UniProtKB/Swiss-Prot:

ROR2_HUMAN
Domain:
  • Contains 1 FZ (frizzled) domain.:
    • Q01974
  • Contains 1 Ig-like C2-type (immunoglobulin-like) domain.:
    • Q01974
  • Contains 1 kringle domain.:
    • Q01974
  • Contains 1 protein kinase domain.:
    • Q01974
Family:
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. ROR subfamily.:
    • Q01974
genes like me logo Genes that share domains with ROR2: view

Function for ROR2 Gene

Molecular function for ROR2 Gene

UniProtKB/Swiss-Prot CatalyticActivity: ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate.
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for ROR2 Gene

Gene Ontology (GO) - Molecular Function for ROR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity --
GO:0004713 protein tyrosine kinase activity --
GO:0004714 transmembrane receptor protein tyrosine kinase activity IEA --
GO:0005109 frizzled binding IEA --
GO:0005515 protein binding IPI 22939624
genes like me logo Genes that share ontologies with ROR2: view
genes like me logo Genes that share phenotypes with ROR2: view

Animal Models for ROR2 Gene

MGI Knock Outs for ROR2:

miRNA for ROR2 Gene

miRTarBase miRNAs that target ROR2

No data available for Transcription Factor Targeting and HOMER Transcription for ROR2 Gene

Localization for ROR2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ROR2 Gene

Cell membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ROR2 Gene COMPARTMENTS Subcellular localization image for ROR2 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 1
cytosol 1
endoplasmic reticulum 1
endosome 1
extracellular 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for ROR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 1334494
GO:0030669 clathrin-coated endocytic vesicle membrane TAS --
genes like me logo Genes that share ontologies with ROR2: view

Pathways for ROR2 Gene

genes like me logo Genes that share pathways with ROR2: view

Gene Ontology (GO) - Biological Process for ROR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development --
GO:0001502 cartilage condensation IEA --
GO:0001756 somitogenesis IEA --
GO:0006468 protein phosphorylation --
GO:0007165 signal transduction TAS 1334494
genes like me logo Genes that share ontologies with ROR2: view

Compounds for ROR2 Gene

(2) HMDB Compounds for ROR2 Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0

(1) Novoseek inferred chemical compound relationships for ROR2 Gene

Compound -log(P) Hits PubMed IDs
tyrosine 65.7 34
genes like me logo Genes that share compounds with ROR2: view

Transcripts for ROR2 Gene

Unigene Clusters for ROR2 Gene

Receptor tyrosine kinase-like orphan receptor 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ROR2 Gene

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: - -

Relevant External Links for ROR2 Gene

GeneLoc Exon Structure for
ROR2
ECgene alternative splicing isoforms for
ROR2

Expression for ROR2 Gene

mRNA expression in normal human tissues for ROR2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ROR2 Gene

This gene is overexpressed in Colon - Sigmoid (5.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ROR2 Gene

SOURCE GeneReport for Unigene cluster for ROR2 Gene Hs.98255

genes like me logo Genes that share expressions with ROR2: view

Orthologs for ROR2 Gene

This gene was present in the common ancestor of animals.

Orthologs for ROR2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ROR2 36
  • 98.2 (n)
  • 98.16 (a)
ROR2 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ROR2 36
  • 89.29 (n)
  • 93.72 (a)
ROR2 37
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ROR2 36
  • 89.51 (n)
  • 93.36 (a)
ROR2 37
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ror2 36
  • 87.52 (n)
  • 92.47 (a)
Ror2 16
Ror2 37
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ROR2 37
  • 85 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ror2 36
  • 87.91 (n)
  • 92.15 (a)
chicken
(Gallus gallus)
Aves ROR2 36
  • 76.31 (n)
  • 87.62 (a)
ROR2 37
  • 86 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ROR2 37
  • 83 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xror2 36
tropical clawed frog
(Silurana tropicalis)
Amphibia ror2 36
  • 74.09 (n)
  • 82.48 (a)
Str.1146 36
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2067 36
zebrafish
(Danio rerio)
Actinopterygii Dr.16109 36
LOC561183 36
  • 70.44 (n)
  • 73.11 (a)
ror2 37
  • 71 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Ror 37
  • 34 (a)
OneToMany
Ror 38
  • 39 (a)
worm
(Caenorhabditis elegans)
Secernentea cam-1 36
  • 46.82 (n)
  • 40.17 (a)
cam-1 37
  • 28 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 40 (a)
ManyToMany
-- 37
  • 40 (a)
ManyToMany
Species with no ortholog for ROR2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ROR2 Gene

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

Paralogs for ROR2 Gene

Paralogs for ROR2 Gene

Selected SIMAP similar genes for ROR2 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with ROR2: view

Variants for ROR2 Gene

Sequence variations from dbSNP and Humsavar for ROR2 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type MAF
rs1135150 -- 91,722,950(-) TGTTT(C/T)TTGGG utr-variant-3-prime
rs1135169 -- 91,722,646(-) TCCTA(G/T)TTGTA utr-variant-3-prime
rs1135179 -- 91,737,518(-) TTTCA(A/G)GATGA synonymous-codon, reference
rs1406201 -- 91,789,400(-) ACCTA(C/G)TTAGT intron-variant
rs1406202 -- 91,918,991(+) CTCTC(C/T)GCAGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ROR2 Gene

Variant ID Type Subtype PubMed ID
nsv6612 CNV Loss 18451855
nsv6613 CNV Insertion 18451855
esv2674278 CNV Deletion 23128226
nsv523940 CNV Loss 19592680
nsv512108 CNV Loss 21212237
nsv518372 CNV Loss 19592680
esv26797 CNV Gain 19812545
esv2433329 CNV Deletion 19546169
esv1005607 CNV Deletion 20482838
esv1763164 CNV Deletion 17803354
esv2738769 CNV Deletion 23290073
dgv1320e201 CNV Deletion 23290073
esv2666509 CNV Deletion 23128226
esv24812 CNV Loss 19812545
nsv6614 CNV Loss 18451855
esv2663538 CNV Deletion 23128226
nsv831653 CNV Gain 17160897
nsv523871 CNV Gain 19592680

Relevant External Links for ROR2 Gene

HapMap Linkage Disequilibrium report
ROR2
Human Gene Mutation Database (HGMD)
ROR2
Locus Specific Mutation Databases (LSDB)
ROR2

Disorders for ROR2 Gene

(2) OMIM Diseases for ROR2 Gene (602337)

UniProtKB/Swiss-Prot

ROR2_HUMAN
  • 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. {ECO:0000269 PubMed:10932186, ECO:0000269 PubMed:10932187}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for ROR2 Gene

(8) Novoseek inferred disease relationships for ROR2 Gene

Disease -log(P) Hits PubMed IDs
brachydactyly, type b 98.4 19
robinow syndrome, autosomal recessive 97.5 6
robinow syndrome 96.3 15
brachydactyly 88.2 7
symphalangism, proximal 87.7 1

Relevant External Links for ROR2

GeneTests
ROR2
GeneReviews
ROR2
Genetic Association Database (GAD)
ROR2
Human Genome Epidemiology (HuGE) Navigator
ROR2
genes like me logo Genes that share disorders with ROR2: view

Publications for ROR2 Gene

  1. Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B. (PMID: 10700182) Oldridge M. … Wilkie A.O.M. (Nat. Genet. 2000) 2 3 4 23
  2. Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2. (PMID: 10932186) Afzal A.R. … Jeffery S. (Nat. Genet. 2000) 3 4 23
  3. Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome. (PMID: 10932187) van Bokhoven H. … Brunner H.G. (Nat. Genet. 2000) 3 4 23
  4. Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B. (PMID: 10986040) Schwabe G.C. … Mundlos S. (Am. J. Hum. Genet. 2000) 3 4 23
  5. Family-based association study of ROR2 polymorphisms with an array of radiographic hand bone strength phenotypes. (PMID: 17619808) Ermakov S. … Livshits G. (Osteoporos Int 2007) 3 23 49

Products for ROR2 Gene

  • Addgene plasmids for ROR2

Sources for ROR2 Gene

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