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 cha... See more...

Aliases for ROR2 Gene

Aliases for ROR2 Gene

  • Receptor Tyrosine Kinase Like Orphan Receptor 2 2 3 5
  • Tyrosine-Protein Kinase Transmembrane Receptor ROR2 3 4
  • NTRKR2 3 4
  • Neurotrophic Tyrosine Kinase, Receptor-Related 2 4
  • Neurotrophic Tyrosine Kinase Receptor-Related 2 3
  • Receptor Tyrosine Kinase-Like Orphan Receptor 2 2
  • 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 1 and Brachydactyly, Type B1. Among its related pathways are ERK Signaling and Signaling by Wnt. Gene Ontology (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 Summary 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

Additional gene information for ROR2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ROR2 Gene

Genomics for ROR2 Gene

GeneHancer (GH) Regulatory Elements for ROR2 Gene

Promoters and enhancers for ROR2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J091944 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 507.9 +2.2 2199 7 HNRNPK EP300 CTCF NRF1 GTF2E2 ZNF639 ZIC2 ZBTB10 ZNF263 ZBTB11 ROR2 lnc-SPTLC1-6 NOL8 SPTLC1 MTND4P15 NFIL3 FGD3 piR-41405-143
GH09J091854 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 509.4 +93.2 93189 4.2 TOE1 MAX NR2F2 ZFHX2 CTCF EGR1 MITF SMARCA4 USF2 RAD51 ROR2 LOC101927935 piR-41405-143 lnc-SPTLC1-6
GH09J091895 Enhancer 1.5 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 32 +50.3 50343 8.3 CTCF ZSCAN5C ZIC2 ZBTB11 MYC CTBP1 PRPF4 TRIM25 ATF2 MXI1 ROR2 SPTLC1 CENPP piR-41405-143 lnc-SPTLC1-6
GH09J091905 Enhancer 1.4 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 22.2 +44.1 44055 0.9 ZNF423 MYC CTBP1 MIER1 ZNF316 MAFF POLR2A NKRF MAX MAFK ROR2 SPTLC1 piR-41405-143 lnc-SPTLC1-6
GH09J091823 Enhancer 1.2 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 18.8 +125.1 125069 2.5 MXI1 RCOR1 CHD2 FOS CTCF RAD21 SCRT2 ROR2 ECM2 LOC101927935 KR153194-206 lnc-SPTLC1-6
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ROR2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ROR2

Top Transcription factor binding sites by QIAGEN in the ROR2 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • C/EBPalpha
  • Chx10
  • FOXI1
  • HFH-3
  • SRF
  • TBP
  • TGIF

Genomic Locations for ROR2 Gene

Genomic Locations for ROR2 Gene
chr9:91,563,091-91,950,228
(GRCh38/hg38)
Size:
387,138 bases
Orientation:
Minus strand
chr9:94,325,373-94,712,444
(GRCh37/hg19)
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

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

Other Protein References for ROR2 Gene

No data available for DME Specific Peptides for ROR2 Gene

Domains & Families for ROR2 Gene

Gene Families for ROR2 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for ROR2 Gene

GenScript: Design optimal peptide antigens:
  • Receptor tyrosine kinase-like orphan receptor 2 (A1L4F5_HUMAN)
  • Neurotrophic tyrosine kinase, receptor-related 2 (ROR2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q01974

UniProtKB/Swiss-Prot:

ROR2_HUMAN :
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. ROR subfamily.
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 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).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein]; Xref=Rhea:RHEA:10596, Rhea:RHEA-COMP:10136, Rhea:RHEA-COMP:10137, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:46858, ChEBI:CHEBI:82620, ChEBI:CHEBI:456216; EC=2.7.10.1; Evidence={ECO:0000255 PROSITE-ProRule:PRU10028, ECO:0000269 PubMed:17717073};.

Enzyme Numbers (IUBMB) for ROR2 Gene

Phenotypes From GWAS Catalog 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 IBA,TAS 21873635
GO:0005109 frizzled binding IEA --
GO:0005515 protein binding IPI,IEA 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

CRISPR Products

miRNA for ROR2 Gene

miRTarBase miRNAs that target ROR2

Clone Products

  • Addgene plasmids for ROR2

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 3
extracellular 2
nucleus 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
cytosol 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for ROR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005874 microtubule IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS,IBA 21873635
GO:0009986 cell surface IEA --
genes like me logo Genes that share ontologies with ROR2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ROR2 Gene

Pathways & Interactions for ROR2 Gene

PathCards logo

SuperPathways for ROR2 Gene

SuperPathway Contained pathways
1 GPCR Pathway
.73
.73
.62
.59
.58
.58
.55
.38
2 ERK Signaling
.61
.61
.58
.51
.49
3 Nanog in Mammalian ESC Pluripotency
.61
.61
.59
.48
4 Actin Nucleation by ARP-WASP Complex
.66
.66
.41
5 CDK-mediated phosphorylation and removal of Cdc6
genes like me logo Genes that share pathways with ROR2: view

Pathways by source for ROR2 Gene

28 Qiagen pathways for ROR2 Gene
  • 14-3-3 Induced Intracellular Signaling
  • Actin Nucleation and Branching
  • Actin Nucleation by ARP-WASP Complex
  • Activation of cAMP-Dependent PKA
  • Activation of PKA through GPCR
1 Cell Signaling Technology pathway for ROR2 Gene
1 GeneTex pathway for ROR2 Gene

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

(4) Drugs for ROR2 Gene - From: ClinicalTrials, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Fludarabine Approved Pharma DNA synthsis inhibitor 1470,1470
Cyclophosphamide Approved, Investigational Pharma Nitrogen mustard alkylating agent and prodrug. 3570
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Pore Blocker, Potentiation 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
genes like me logo Genes that share compounds with ROR2: view

Transcripts for ROR2 Gene

mRNA/cDNA for ROR2 Gene

2 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for ROR2

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

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, MaxQB, and MOPED for ROR2 Gene



Protein tissue co-expression partners for ROR2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ROR2

SOURCE GeneReport for Unigene cluster for ROR2 Gene:

Hs.98255

Evidence on tissue expression from TISSUES for ROR2 Gene

  • Nervous system(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ROR2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cheek
  • chin
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • skull
  • tongue
  • tooth
Thorax:
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • intestine
  • kidney
Pelvis:
  • pelvis
  • penis
  • testicle
  • ureter
  • vagina
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood vessel
  • hair
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with ROR2: view

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 31 30
  • 98.2 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ROR2 31 30
  • 89.51 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ROR2 31 30
  • 89.29 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ror2 30
  • 87.91 (n)
mouse
(Mus musculus)
Mammalia Ror2 17 31 30
  • 87.52 (n)
oppossum
(Monodelphis domestica)
Mammalia ROR2 31
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves ROR2 31 30
  • 76.31 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ROR2 31
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ror2 30
  • 74.09 (n)
Str.1146 30
African clawed frog
(Xenopus laevis)
Amphibia Xror2 30
zebrafish
(Danio rerio)
Actinopterygii ror2 31
  • 71 (a)
OneToOne
LOC561183 30
  • 70.44 (n)
Dr.16109 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2067 30
fruit fly
(Drosophila melanogaster)
Insecta Ror 31 32
  • 34 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea cam-1 31 30
  • 46.82 (n)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 40 (a)
ManyToMany
-- 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ROR2: view image

Paralogs for ROR2 Gene

(13) SIMAP similar genes for ROR2 Gene using alignment to 3 proteins:

  • ROR2_HUMAN
  • A1L4F5_HUMAN
  • B1APY4_HUMAN
genes like me logo Genes that share paralogs with ROR2: view

Variants for ROR2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ROR2 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
592994 Uncertain Significance: not provided 91,724,554(-) T/C MISSENSE_VARIANT
593001 Uncertain Significance: not provided 91,723,977(-) C/G SYNONYMOUS_VARIANT
594282 Uncertain Significance: not provided 91,757,502(-) G/C MISSENSE_VARIANT
594697 Uncertain Significance: not provided 91,949,927(-) G/C MISSENSE_VARIANT
594897 Uncertain Significance: not provided 91,731,161(-) C/G INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for ROR2 Gene

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

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

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)

Additional Variant Information for ROR2 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for ROR2 Gene

MalaCards: The human disease database

(13) MalaCards diseases for ROR2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- 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.

Additional Disease Information for ROR2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 AO (Nature genetics 2000) 2 3 4 23 54
  2. Family-based association study of ROR2 polymorphisms with an array of radiographic hand bone strength phenotypes. (PMID: 17619808) Ermakov S … Livshits G (Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA 2007) 3 23 41 54
  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 (Molecular endocrinology (Baltimore, Md.) 2007) 3 4 23 54
  4. Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B. (PMID: 10986040) Schwabe GC … Mundlos S (American journal of human genetics 2000) 3 4 23 54
  5. Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2. (PMID: 10932186) Afzal AR … Jeffery S (Nature genetics 2000) 3 4 23 54

Products for ROR2 Gene

Sources for ROR2 Gene