RSPO2 (R-spondin 2)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
340419
Gene name Gene Name - the full gene name approved by the HGNC.
R-spondin 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RSPO2
Synonyms (NCBI Gene) Gene synonyms aliases
CRISTIN2, HHRRD, TETAMS2
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8q23.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 assay, Western blotting, qRT-PCR 33402849
MIRT736322 hsa-miR-196b-5p Luciferase reporter assay, Western blotting, Microarray, qRT-PCR 33402849
MIRT1321398 hsa-miR-1915 CLIP-seq
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
Transcription factor Regulation Reference
FOXQ1 Activation 20145154
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(27)
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
610575 28583 ENSG00000147655
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Tetraamelia syndrome tetraamelia syndrome 2 rs1554579568, rs1554576888 N/A
HUMEROFEMORAL HYPOPLASIA WITH RADIOTIBIAL RAY DEFICIENCY humerofemoral hypoplasia with radiotibial ray deficiency rs758888137 N/A
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Oligodendroglioma Oligodendroglioma N/A N/A GWAS
Prostate cancer Prostate cancer N/A N/A GWAS
Tetraamelia tetraamelia-multiple malformations syndrome N/A N/A GenCC
Show/Hide Text Mining Associations (31)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 28350845
Adenoma Associate 37612734
Adenomatous Polyposis Coli Stimulate 33320737
Breast Neoplasms Stimulate 33320737
Breast Neoplasms Associate 40076569
Carcinogenesis Associate 28219935, 28350845, 34234737
Carcinoma Endometrioid Associate 34200508
Carcinoma Hepatocellular Inhibit 32581137
Colonic Neoplasms Associate 22895193, 33320737
Colonic Neoplasms Stimulate 33320737