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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ROR2
receptor tyrosine kinase like orphan receptor 2
Chromosome 9 Β· 9q22.31
NCBI Gene: 4920Ensembl: ENSG00000169071.16HGNC: HGNC:10257UniProt: Q01974
177PubMed Papers
22Diseases
0Drugs
64Pathogenic Variants
FUNCTIONAL ROLE
KinaseReceptor
RESEARCH IMPACT
TrendingVariant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
signal transductionWnt-protein bindingmitogen-activated protein kinase kinase kinase bindingprotein bindingautosomal recessive Robinow syndromebrachydactyly type B1Abnormality of the skeletal systemneurodegenerative disease
✦AI Summary

ROR2 is a receptor tyrosine kinase-like orphan receptor that functions as a key regulator of cellular plasticity and developmental processes. Mechanistically, ROR2 acts as a non-canonical Wnt signaling receptor, particularly for WNT5A ligand, activating ROR2 homooligomerization to initiate downstream signaling cascades 1. ROR2 operates within diverse signaling pathways including Wnt/Ca2+ signaling 2 and can mediate phosphorylation events like PlexinB1 activation in vascular contexts 3. Developmentally, ROR2 is essential for proper skeletal development; mutations cause Robinow syndrome (autosomal recessive) and brachydactyly B1, characterized by mesomelic shortening and skeletal abnormalities 4. ROR2 expression is primarily embryonic but is aberrantly reactivated in cancers. In disease contexts, ROR2 drives aggressive phenotypes across multiple cancer types. In pancreatic ductal adenocarcinoma, ROR2 promotes epithelial-to-mesenchymal transition, confers resistance to KRAS inhibitors, and marks metaplasia-like identities 5. In breast cancer, ROR2 enhances stem-like cell properties and tumor-initiation capacity 1. ROR2 is also implicated in age-related macular degeneration pathology through pericyte activation 3. These oncogenic roles have prompted development of therapeutic ROR2-targeting approaches, including conditionally active antibody-drug conjugates showing efficacy across multiple cancer xenograft models 6.

Sources cited
1
ROR2 undergoes Wnt5a-induced homooligomerization to activate noncanonical Wnt signaling and enhance cancer stem cell properties
PMID: 39829682
2
ROR2 functions within non-canonical Wnt/Ca2+ signaling pathways involved in development and other molecular phenomena
PMID: 21903638
3
ROR2 mediates PlexinB1 phosphorylation on pericytes, contributing to neovascularization in age-related macular degeneration
PMID: 40121188
4
ROR2 mutations cause autosomal recessive Robinow syndrome and autosomal dominant brachydactyly B, characterized by skeletal abnormalities
PMID: 12011143
5
ROR2 regulates cellular plasticity in pancreatic cancer, promoting epithelial-to-mesenchymal transition and KRAS inhibitor resistance
PMID: 38975886
6
ROR2 is a tumor-associated antigen overexpressed in multiple cancers including melanoma, renal cell carcinoma, and pancreatic adenocarcinoma, serving as a therapeutic target
PMID: 40202784
Disease Associationsβ“˜22
autosomal recessive Robinow syndromeOpen Targets
0.81Strong
brachydactyly type B1Open Targets
0.76Strong
Abnormality of the skeletal systemOpen Targets
0.53Moderate
neurodegenerative diseaseOpen Targets
0.50Moderate
Robinow syndromeOpen Targets
0.39Weak
brachydactylyOpen Targets
0.37Weak
fetal akinesia deformation sequence 1Open Targets
0.34Weak
placenta praeviaOpen Targets
0.33Weak
arthrogryposis multiplex congenitaOpen Targets
0.33Weak
fetal akinesia deformation sequenceOpen Targets
0.33Weak
Short statureOpen Targets
0.32Weak
systemic lupus erythematosusOpen Targets
0.29Weak
benign neoplasm of adrenal glandOpen Targets
0.28Weak
psoriatic arthritisOpen Targets
0.28Weak
distal symphalangismOpen Targets
0.27Weak
cutaneous lupus erythematosusOpen Targets
0.26Weak
Abnormal blistering of the skinOpen Targets
0.23Weak
thyroid cancerOpen Targets
0.22Weak
genetic disorderOpen Targets
0.19Weak
Intellectual disabilityOpen Targets
0.15Weak
Brachydactyly B1UniProt
Robinow syndrome, autosomal recessive 1UniProt
Pathogenic Variants64
NM_004560.4(ROR2):c.1398dup (p.Glu467fs)Pathogenic
Brachydactyly type B1|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 467
NM_004560.4(ROR2):c.355C>T (p.Arg119Ter)Pathogenic
Autosomal recessive Robinow syndrome|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 119
NM_004560.4(ROR2):c.1189C>T (p.Arg397Ter)Pathogenic
Autosomal recessive Robinow syndrome|Brachydactyly type B1|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 397
NM_004560.4(ROR2):c.1582C>T (p.Arg528Ter)Pathogenic
not provided|Autosomal recessive Robinow syndrome|Brachydactyly type B1;Autosomal recessive Robinow syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 528
NM_004560.4(ROR2):c.1324C>T (p.Arg442Ter)Pathogenic
Robinow syndrome, autosomal recessive, with brachy-syn-polydactyly|Autosomal recessive Robinow syndrome|not provided|Brachydactyly type B1;Autosomal recessive Robinow syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 442
NM_004560.4(ROR2):c.175+1G>ALikely pathogenic
not provided|Autosomal recessive Robinow syndrome;Brachydactyly type B1
β˜…β˜…β˜†β˜†2022
NM_004560.4(ROR2):c.566_569dup (p.Ile191fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 191
NM_004560.4(ROR2):c.2265delinsTT (p.Tyr755_Asn756insTer)Likely pathogenic
Brachydactyly type B1
β˜…β˜†β˜†β˜†2025β†’ Residue 755
NM_004560.4(ROR2):c.1375C>T (p.Gln459Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 459
NM_004560.4(ROR2):c.1357G>T (p.Glu453Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 453
NM_004560.4(ROR2):c.1083del (p.His362fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 362
NM_004560.4(ROR2):c.1083dup (p.His362fs)Likely pathogenic
Autosomal recessive Robinow syndrome;Brachydactyly type B1
β˜…β˜†β˜†β˜†2024β†’ Residue 362
NM_004560.4(ROR2):c.1137del (p.Gln380fs)Likely pathogenic
Autosomal recessive Robinow syndrome;Brachydactyly type B1
β˜…β˜†β˜†β˜†2024β†’ Residue 380
NM_004560.4(ROR2):c.550C>T (p.Arg184Cys)Likely pathogenic
Autosomal recessive Robinow syndrome|Brachydactyly type B1;Autosomal recessive Robinow syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 184
NM_004560.4(ROR2):c.799G>T (p.Glu267Ter)Likely pathogenic
Autosomal recessive Robinow syndrome;Brachydactyly type B1
β˜…β˜†β˜†β˜†2024β†’ Residue 267
NM_004560.4(ROR2):c.531C>G (p.Tyr177Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 177
NM_004560.4(ROR2):c.2018C>G (p.Ser673Ter)Likely pathogenic
Autosomal recessive Robinow syndrome;Brachydactyly type B1
β˜…β˜†β˜†β˜†2024β†’ Residue 673
NM_004560.4(ROR2):c.2353del (p.Arg785fs)Likely pathogenic
Autosomal recessive Robinow syndrome;Brachydactyly type B1
β˜…β˜†β˜†β˜†2024β†’ Residue 785
NM_004560.4(ROR2):c.1855del (p.Arg619fs)Likely pathogenic
Autosomal recessive Robinow syndrome;Brachydactyly type B1
β˜…β˜†β˜†β˜†2024β†’ Residue 619
NM_004560.4(ROR2):c.1318C>T (p.Gln440Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 440
View on ClinVar β†—
Related Genes
FZD4Protein interaction100%FZD5Protein interaction100%FZD2Protein interaction100%FZD9Protein interaction100%FZD7Protein interaction100%FZD6Protein interaction100%
Tissue Expression6 tissues
Ovary
100%
Lung
21%
Brain
10%
Heart
9%
Liver
3%
Bone Marrow
2%
Gene Interaction Network
Click a node to explore
ROR2FZD4FZD5FZD2FZD9FZD7FZD6
PROTEIN STRUCTURE
Preparing viewer…
PDB6OSN Β· 1.08 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.54Moderately Constrained
pLIβ“˜
0.35Tolerant
Observed/Expected LoF0.41 [0.31–0.54]
RankingsWhere ROR2 stands among ~20K protein-coding genes
  • #2,469of 20,598
    Most Researched177 Β· top quartile
  • #1,117of 5,498
    Most Pathogenic Variants64 Β· top quartile
  • #3,446of 17,882
    Most Constrained (LOEUF)0.54 Β· top quartile
Genes detectedROR2
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
A proteogenomic portrait of lung squamous cell carcinoma.
PMID: 34358469
Cell Β· 2021
1.00
2
ROR2 Regulates Cellular Plasticity in Pancreatic Neoplasia and Adenocarcinoma.
PMID: 38975886
Cancer Discov Β· 2024
0.90
3
Wnt/Ca2+ signaling pathway: a brief overview.
PMID: 21903638
Acta Biochim Biophys Sin (Shanghai) Β· 2011
0.80
4
Human Genetics of Ventricular Septal Defect.
PMID: 38884729
Adv Exp Med Biol Β· 2024
0.70
5
Characterization of Wnt Signaling Pathway Aberrations in Metastatic Prostate Cancer.
PMID: 38912907
Mol Cancer Res Β· 2024
0.60