RSPO2 (R-spondin 2)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 340419
Gene name R-spondin 2
Gene symbol RSPO2
Synonyms (NCBI Gene)
CRISTIN2HHRRDTETAMS2
Chromosome 8
Chromosome location 8q23.1
Summary This gene encodes a member of the R-spondin family of proteins. These proteins are secreted ligands of leucine-rich repeat containing G protein-coupled receptors that enhance Wnt signaling through the inhibition of ubiquitin E3 ligases. A chromosomal tran
SNPs SNP information provided by dbSNP.
3
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (3)
SNP ID Visualize variation Clinical significance Consequence
rs758888137 G>A,T Pathogenic Intron variant, missense variant, coding sequence variant
rs1554576888 C>A Pathogenic Coding sequence variant, stop gained
rs1554579568 C>- Pathogenic Coding sequence variant, 5 prime UTR variant, frameshift variant, intron variant
miRNA miRNA information provided by mirtarbase database.
54
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (54)
miRTarBase ID miRNA Experiments Reference
MIRT018965 hsa-miR-335-5p Microarray 18185580
MIRT038982 hsa-miR-15a-3p CLASH 23622248
MIRT736322 hsa-miR-196b-5p Luciferase reporter assayWestern blottingqRT-PCR 33402849
MIRT736322 hsa-miR-196b-5p Luciferase reporter assayWestern blottingMicroarrayqRT-PCR 33402849
MIRT1321398 hsa-miR-1915 CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
FOXQ1 Activation 20145154
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0001649 Process Osteoblast differentiation IEA
GO:0005102 Function Signaling receptor binding IPI 22615920
GO:0005515 Function Protein binding IPI 25416956, 29769720, 32296183, 32814053
GO:0005576 Component Extracellular region IEA
GO:0005576 Component Extracellular region NAS 24431302
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
610575 28583 ENSG00000147655
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6UXX9
Protein name R-spondin-2 (Roof plate-specific spondin-2) (hRspo2)
Protein function Activator of the canonical Wnt signaling pathway by acting as a ligand for LGR4-6 receptors. Upon binding to LGR4-6 (LGR4, LGR5 or LGR6), LGR4-6 associate with phosphorylated LRP6 and frizzled receptors that are activated by extracellular Wnt re
PDB 8XFP , 8XFS , 8XFT , 8XUM , 8Y69
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15913 Furin-like_2 40 → 141 Furin-like repeat, cysteine-rich Domain
Sequence 
MQFRLFSFALIILNCMDYSHCQGNRWRRSKRASYVSNPICKGCLSCSKDNGCSRCQQKLF
FFLRREGMRQYGECLHSCPSGYYGHRAPDMNRCARCRIENCDSCFSKDFCTKCKVGFYLH
RGRCFDECPDGFAPLEETMECVEGCEVGHWSEWGTCSRNNRTCGFKWGLETRTRQIVKKP
VKDTILCPTIAESRRCKMTMRHCPGGKRTPKAKEKRNKKKKRKLIERAQEQHSVFLATDR
ANQ
Sequence length 243
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Wnt signaling pathway   Regulation of FZD by ubiquitination
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Humerofemoral hypoplasia with radiotibial ray deficiency Pathogenic rs758888137 RCV000656660
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Tetraamelia syndrome 2 Likely pathogenic; Pathogenic rs1554579568, rs1554576888 RCV000656658
RCV000656659
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (12)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ANDROGENETIC ALOPECIA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHILDHOOD ACUTE LYMPHOBLASTIC LEUKEMIA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colorectal cancer Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (96)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 31209633
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 31579414
★★★★★
★☆☆☆☆
Found in Text Mining only
Agenesis of corpus callosum Agenesis Of Corpus Callosum HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Alopecia Alopecia GWASCAT_DG 28196072
★★★★★
★☆☆☆☆
Found in Text Mining only
Alopecia, Androgenetic, 1 Androgenetic Alopecia GWASCAT_DG 29146897
★★★★★
★☆☆☆☆
Found in Text Mining only
Alopecia, Androgenetic, 2 Androgenetic Alopecia GWASCAT_DG 29146897
★★★★★
★☆☆☆☆
Found in Text Mining only
Alopecia, Androgenetic, 3 Androgenetic Alopecia GWASCAT_DG 29146897
★★★★★
★☆☆☆☆
Found in Text Mining only
Alopecia, Male Pattern Alopecia, Male Pattern GWASCAT_DG 29146897
★★★★★
★☆☆☆☆
Found in Text Mining only
Androgenetic Alopecia Androgenetic Alopecia GWASCAT_DG 29146897
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Ankyloglossia Ankyloglossia HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only