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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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RSPO2
R-spondin 2
Chromosome 8 · 8q23.1
NCBI Gene: 340419Ensembl: ENSG00000147655.13HGNC: HGNC:28583UniProt: B3KVP3
65PubMed Papers
22Diseases
0Drugs
5Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
signaling receptor bindingprotein bindingpositive regulation of Wnt signaling pathwaylimb developmentTetraamelia - multiple malformationsprostate carcinomahumerofemoral hypoplasia with radiotibial ray deficiencyandrogenetic alopecia
✦AI Summary

RSPO2 (R-spondin 2) is a secreted Wnt pathway activator that functions as a ligand for LGR4-6 receptors, triggering canonical Wnt/β-catenin signaling 12. Uniquely, RSPO2 also acts independently of LGR4-6 as a direct antagonistic ligand to the E3 ubiquitin ligases RNF43 and ZNRF3, which serve as master regulators of limb specification during embryonic development 3. Beyond development, RSPO2 has emerged as a pathogenic mediator in multiple disease contexts. In osteoarthritis, synovial M1-polarized macrophages and Prg4+ fibroblasts secrete RSPO2, which activates β-catenin signaling in chondrocytes to exacerbate cartilage damage 12. Similarly, in rheumatoid arthritis, elevated RSPO2 expression promotes fibroblast-like synoviocyte aggression and disrupts chondrocyte homeostasis via Wnt/β-catenin activation 4. In cancer, RSPO2 upregulation enhances gastric cancer cell invasion and migration through LGR5-dependent Wnt signaling 5, while in breast cancer bone metastasis, RSPO2-LGR4 signaling on osteoclast precursors facilitates premetastatic niche formation 6. These findings position RSPO2 neutralization and Wnt pathway inhibition as potential therapeutic strategies for arthritis and cancer-related pathologies.

Sources cited
1
M1 macrophages secrete RSPO2 to activate β-catenin signaling in chondrocytes, exacerbating osteoarthritis
PMID: 29991473
2
Synovial Prg4+ fibroblasts secrete RSPO2 after joint injury, driving pathological Wnt/β-catenin signaling in post-traumatic osteoarthritis
PMID: 36175067
3
RSPO2 signals through LGR4 on osteoclast precursors to regulate premetastatic niche formation and breast cancer bone metastasis
PMID: 34847079
4
RSPO2 participates in NF-κB-regulated chondrogenesis during heterotopic ossification
PMID: 38439078
5
RSPO2 directly antagonizes RNF43 and ZNRF3 independently of LGR4/5/6 to govern limb specification during development
PMID: 29769720
6
RSPO2 expression in Prg4+ tendon stem/progenitor cells suppresses ectopic ossification via Wnt pathway activation
PMID: 35984875
7
RSPO2 exacerbates rheumatoid arthritis by promoting fibroblast-like synoviocyte aggression and disrupting chondrocyte homeostasis through Wnt/β-catenin signaling
PMID: 37946278
8
RSPO2 upregulation enhances gastric cancer cell invasion and migration via LGR5-dependent Wnt/β-catenin pathway activation
PMID: 30362605
Disease Associationsⓘ22
Tetraamelia - multiple malformationsOpen Targets
0.57Moderate
prostate carcinomaOpen Targets
0.54Moderate
humerofemoral hypoplasia with radiotibial ray deficiencyOpen Targets
0.50Moderate
androgenetic alopeciaOpen Targets
0.47Moderate
hair colorOpen Targets
0.46Moderate
tetraamelia-multiple malformations syndromeOpen Targets
0.44Moderate
Dupuytren ContractureOpen Targets
0.44Moderate
alopeciaOpen Targets
0.39Weak
esophageal adenocarcinomaOpen Targets
0.37Weak
gastric carcinomaOpen Targets
0.37Weak
colon adenocarcinomaOpen Targets
0.37Weak
hemangioblastomaOpen Targets
0.37Weak
Hepatobiliary NeoplasmOpen Targets
0.37Weak
HER2 Positive Breast CarcinomaOpen Targets
0.37Weak
kidney neoplasmOpen Targets
0.37Weak
lobular breast carcinomaOpen Targets
0.37Weak
Ovarian Endometrioid Adenocarcinoma with Squamous DifferentiationOpen Targets
0.37Weak
pancreatic ductal adenocarcinomaOpen Targets
0.37Weak
pancreatic neuroendocrine tumorOpen Targets
0.37Weak
prostate adenocarcinomaOpen Targets
0.37Weak
Humerofemoral hypoplasia with radiotibial ray deficiencyUniProt
Tetraamelia syndrome 2UniProt
Pathogenic Variants5
NM_178565.5(RSPO2):c.95-1G>ALikely pathogenic
Tetraamelia-multiple malformations syndrome
★☆☆☆2023
NM_178565.5(RSPO2):c.256C>T (p.Arg86Ter)Pathogenic
not provided
★☆☆☆2022→ Residue 86
NM_178565.5(RSPO2):c.125del (p.Gly42fs)Likely pathogenic
Tetraamelia syndrome 2
★☆☆☆→ Residue 42
NM_178565.5(RSPO2):c.205C>T (p.Arg69Cys)Pathogenic
Humerofemoral hypoplasia with radiotibial ray deficiency
☆☆☆☆2022→ Residue 69
NM_178565.5(RSPO2):c.409G>T (p.Glu137Ter)Pathogenic
Tetraamelia syndrome 2
☆☆☆☆2018→ Residue 137
View on ClinVar ↗
Related Genes
RSPO4Shared pathway100%RNF43Protein interaction100%KRT71Protein interaction91%FGF5Protein interaction88%LGR5Protein interaction87%PTPRKProtein interaction79%
Tissue Expression6 tissues
Brain
100%
Lung
22%
Bone Marrow
19%
Liver
3%
Heart
2%
Ovary
1%
Gene Interaction Network
Click a node to explore
RSPO2RSPO4RNF43KRT71FGF5LGR5PTPRK
PROTEIN STRUCTURE
Preparing viewer…
PDB8XUM · 2.90 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.67LoF Tolerant
pLIⓘ
0.29Tolerant
Observed/Expected LoF0.41 [0.26–0.67]
RankingsWhere RSPO2 stands among ~20K protein-coding genes
  • #7,204of 20,598
    Most Researched65
  • #3,560of 5,498
    Most Pathogenic Variants5
  • #4,910of 17,882
    Most Constrained (LOEUF)0.67
Genes detectedRSPO2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Synovial macrophage M1 polarisation exacerbates experimental osteoarthritis partially through R-spondin-2.
PMID: 29991473
Ann Rheum Dis · 2018
1.00
2
Synovial fibroblasts assume distinct functional identities and secrete R-spondin 2 in osteoarthritis.
PMID: 36175067
Ann Rheum Dis · 2023
0.90
3
RSPO2 and RANKL signal through LGR4 to regulate osteoclastic premetastatic niche formation and bone metastasis.
PMID: 34847079
J Clin Invest · 2022
0.80
4
Role of the NF-kB signalling pathway in heterotopic ossification: biological and therapeutic significance.
PMID: 38439078
Cell Commun Signal · 2024
0.70
5
RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6.
PMID: 29769720
Nature · 2018
0.60