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Aliases for ROR2 Gene

Aliases for ROR2 Gene

  • Receptor Tyrosine Kinase Like Orphan Receptor 2 2 3 5
  • NTRKR2 3 4
  • Tyrosine-Protein Kinase Transmembrane Receptor ROR2 3
  • Neurotrophic Tyrosine Kinase, Receptor-Related 2 4
  • Receptor Tyrosine Kinase-Like Orphan Receptor 2 2
  • Neurotrophic Tyrosine Kinase Receptor-Related 2 3
  • EC 2.7.10.1 4
  • BDB1 3
  • BDB 3

External Ids for ROR2 Gene

Previous HGNC Symbols for ROR2 Gene

  • NTRKR2
  • BDB
  • BDB1

Previous GeneCards Identifiers for ROR2 Gene

  • GC09M085319
  • GC09M086212
  • GC09M087624
  • GC09M089826
  • GC09M093365
  • GC09M093524
  • GC09M094325
  • GC09M064163

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 Brachydactyly, Type B1. Among its related pathways are Wnt Signaling Pathways: beta-Catenin-dependent Wnt Signaling and Activation of cAMP-Dependent PKA. GO annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is ROR1.

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 (By similarity). Phosphorylates YWHAB, leading to induction of osteogenesis and bone formation (PubMed:17717073). In contrast, has also been shown to have very little tyrosine kinase activity in vitro. May act as a receptor for wnt ligand WNT5A which may result in the inhibition of WNT3A-mediated signaling (PubMed:25029443).

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

Regulatory Elements for ROR2 Gene

Enhancers for ROR2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09F091895 1.6 FANTOM5 Ensembl ENCODE 32 +50.0 49989 8.9 HDGF PKNOX1 ARNT CREB3L1 SIN3A DMAP1 FEZF1 YY1 KLF13 REST ROR2 ZNF484 SPTLC1 CENPP GC09M091846
GH09F091905 1.7 FANTOM5 Ensembl ENCODE 22.2 +43.9 43862 2.2 HDGF PKNOX1 ATF1 ARNT ARID4B SIN3A YBX1 ZNF2 YY1 ZNF121 ROR2 SPTLC1 GC09M091846
GH09F091823 1.1 FANTOM5 Ensembl ENCODE 18.8 +125.2 125150 2.2 SCRT2 REST IRF1 FOS RAD21 ROR2 LOC101927935 GC09P091736
GH09F091795 1.1 Ensembl ENCODE 16.2 +152.4 152396 4.4 PKNOX1 KLF17 FEZF1 GLIS2 ZNF366 SCRT2 FOS EGR2 ZNF263 ZEB2 ROR2 SYK LOC101927935 GC09P091736
GH09F091770 1 Ensembl ENCODE 15.4 +178.6 178633 2.0 DRAP1 CTCF SAP130 DMAP1 CEBPG RAD21 TEAD3 SMC3 HOMEZ GATAD2A ROR2 GC09P091736 LOC101927935
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ROR2 on UCSC Golden Path with GeneCards custom track

Promoters for ROR2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001308336 661 2999 ATF1 FEZF1 ZNF2 GLIS2 FOS ZNF263 TSHZ1 REST ZNF623 SMARCA4

Genomic Location for ROR2 Gene

Chromosome:
9
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

Genes around ROR2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ROR2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ROR2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Homodimer; promotes osteogenesis. Binds YWHAB (PubMed:17717073). 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

Post-translational modifications for ROR2 Gene

  • Ubiquitination at Lys 489
  • Glycosylation at Asn 70, Thr 157, Asn 188, and Asn 318
  • Modification sites at PhosphoSitePlus

Other Protein References for ROR2 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for ROR2 (ROR2)

No data available for DME Specific Peptides for ROR2 Gene

Domains & Families for ROR2 Gene

Suggested Antigen Peptide Sequences for ROR2 Gene

Graphical View of Domain Structure for InterPro Entry

Q01974

UniProtKB/Swiss-Prot:

ROR2_HUMAN :
  • Contains 1 FZ (frizzled) domain.
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. ROR subfamily.
Domain:
  • Contains 1 FZ (frizzled) domain.
  • Contains 1 Ig-like C2-type (immunoglobulin-like) domain.
  • Contains 1 kringle domain.
  • Contains 1 protein kinase domain.
Family:
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. ROR subfamily.
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 (By similarity). Phosphorylates YWHAB, leading to induction of osteogenesis and bone formation (PubMed:17717073). In contrast, has also been shown to have very little tyrosine kinase activity in vitro. May act as a receptor for wnt ligand WNT5A which may result in the inhibition of WNT3A-mediated signaling (PubMed:25029443).

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 IEA --
GO:0004713 protein tyrosine kinase activity IEA --
GO:0004714 transmembrane receptor protein tyrosine kinase activity IEA,TAS --
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

Human Phenotype Ontology for ROR2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ROR2 Gene

MGI Knock Outs for ROR2:

Animal Model Products

miRNA for ROR2 Gene

miRTarBase miRNAs that target ROR2

Inhibitory RNA Products

Flow Cytometry Products

No data available for Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ROR2 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 2
extracellular 1
peroxisome 1
endoplasmic reticulum 1
endosome 1

Gene Ontology (GO) - Cellular Components for ROR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005874 microtubule IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 1334494
GO:0009986 cell surface IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with ROR2: view

Pathways & Interactions for ROR2 Gene

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

SIGNOR curated interactions for ROR2 Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for ROR2 Gene

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

Drugs & Compounds for ROR2 Gene

(2) Drugs for ROR2 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0

(1) Additional Compounds for ROR2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
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:

Inhibitory RNA Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE 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 (x5.3).

Protein differential expression in normal tissues from HIPED for ROR2 Gene

This gene is overexpressed in Urine (12.0), Gallbladder (10.6), Ovary (8.2), Rectum (7.6), and Colon (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ROR2 Gene



Protein tissue co-expression partners for ROR2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ROR2 Gene:

ROR2

SOURCE GeneReport for Unigene cluster for ROR2 Gene:

Hs.98255
genes like me logo Genes that share expression patterns with ROR2: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for ROR2 Gene

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 34 35
  • 98.2 (n)
dog
(Canis familiaris)
Mammalia ROR2 34 35
  • 89.51 (n)
cow
(Bos Taurus)
Mammalia ROR2 34 35
  • 89.29 (n)
rat
(Rattus norvegicus)
Mammalia Ror2 34
  • 87.91 (n)
mouse
(Mus musculus)
Mammalia Ror2 34 16 35
  • 87.52 (n)
oppossum
(Monodelphis domestica)
Mammalia ROR2 35
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves ROR2 34 35
  • 76.31 (n)
lizard
(Anolis carolinensis)
Reptilia ROR2 35
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ror2 34
  • 74.09 (n)
Str.1146 34
African clawed frog
(Xenopus laevis)
Amphibia Xror2 34
zebrafish
(Danio rerio)
Actinopterygii ror2 35
  • 71 (a)
OneToOne
LOC561183 34
  • 70.44 (n)
Dr.16109 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2067 34
fruit fly
(Drosophila melanogaster)
Insecta Ror 36 35
  • 39 (a)
worm
(Caenorhabditis elegans)
Secernentea cam-1 34 35
  • 46.82 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 40 (a)
ManyToMany
-- 35
  • 40 (a)
ManyToMany
Species where no ortholog for ROR2 was found in the sources mined by GeneCards:
  • 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

(13) 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
rs121909084 Robinow syndrome autosomal recessive (RRS) [MIM:268310], Pathogenic 91,737,463(-) GTGCA(C/T)GCTTC nc-transcript-variant, reference, missense
rs140213020 A colorectal adenocarcinoma sample 91,724,870(+) CACCA(A/C/T)GCCCA downstream-variant-500B, reference, missense
rs199975149 Robinow syndrome autosomal recessive (RRS) [MIM:268310] 91,737,448(+) GGTCC(A/G)GTTGC nc-transcript-variant, reference, missense
VAR_010770 Robinow syndrome autosomal recessive (RRS) [MIM:268310]
VAR_010771 Robinow syndrome autosomal recessive (RRS) [MIM:268310]

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

Variant ID Type Subtype PubMed ID
nsv831653 CNV gain 17160897
nsv6614 CNV deletion 18451855
nsv6613 CNV insertion 18451855
nsv6612 CNV deletion 18451855
nsv523940 CNV loss 19592680
nsv523871 CNV gain 19592680
nsv518372 CNV loss 19592680
nsv512108 CNV loss 21212237
nsv475574 CNV novel sequence insertion 20440878
nsv1077163 CNV deletion 25765185
nsv1046733 CNV gain 25217958
nsv1045332 CNV loss 25217958
esv3621072 CNV loss 21293372
esv3621071 CNV loss 21293372
esv3621070 CNV loss 21293372
esv3576683 CNV gain 25503493
esv3545128 CNV deletion 23714750
esv3347273 CNV duplication 20981092
esv3343493 CNV insertion 20981092
esv2738769 CNV deletion 23290073
esv26797 CNV gain 19812545
esv2674278 CNV deletion 23128226
esv2666509 CNV deletion 23128226
esv2663538 CNV deletion 23128226
esv24812 CNV loss 19812545
esv2433329 CNV deletion 19546169
esv1763164 CNV deletion 17803354
esv1005607 CNV deletion 20482838
dgv1262e201 CNV deletion 23290073

Variation tolerance for ROR2 Gene

Residual Variation Intolerance Score: 67% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.91; 67.68% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ROR2 Gene

Human Gene Mutation Database (HGMD)
ROR2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ROR2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ROR2 Gene

Disorders for ROR2 Gene

MalaCards: The human disease database

(11) MalaCards diseases for ROR2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
robinow syndrome, autosomal recessive
  • fetal face syndrome
brachydactyly, type b1
  • brachydactyly type b
richards-rundle syndrome
  • ataxia-deafness-retardation syndrome with ketoaciduria
ror2-related disorders
brachydactyly
- elite association - COSMIC cancer census association via MalaCards
Search ROR2 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for ROR2

Genetic Association Database (GAD)
ROR2
Human Genome Epidemiology (HuGE) Navigator
ROR2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ROR2
genes like me logo Genes that share disorders with ROR2: view

No data available for Genatlas for ROR2 Gene

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 22 64
  2. 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 22 46 64
  3. Homodimerization of Ror2 tyrosine kinase receptor induces 14-3- 3(beta) phosphorylation and promotes osteoblast differentiation and bone formation. (PMID: 17717073) Liu Y. … Billiard J. (Mol. Endocrinol. 2007) 3 4 22 64
  4. 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 22 64
  5. 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 22 64

Products for ROR2 Gene

Sources for ROR2 Gene

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