Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
84870
Gene name Gene Name - the full gene name approved by the HGNC.
R-spondin 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RSPO3
Synonyms (NCBI Gene) Gene synonyms aliases
CRISTIN1, PWTSR, THSD2
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6q22.33
Summary Summary of gene provided in NCBI Entrez Gene.
This gene belongs to the R-spondin family. The encoded protein plays a role in the regulation of Wnt (wingless-type MMTV integration site family)/beta-catenin and Wnt/planar cell polarity (PCP) signaling pathways, which are involved in development, cell g
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT017040 hsa-miR-335-5p Microarray 18185580
MIRT1321411 hsa-miR-3163 CLIP-seq
MIRT1321412 hsa-miR-3619-3p CLIP-seq
MIRT1321413 hsa-miR-4503 CLIP-seq
MIRT1321414 hsa-miR-4659a-3p CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001525 Process Angiogenesis IEA
GO:0001974 Process Blood vessel remodeling IEA
GO:0001974 Process Blood vessel remodeling ISS
GO:0002040 Process Sprouting angiogenesis IEA
GO:0002040 Process Sprouting angiogenesis ISS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
610574 20866 ENSG00000146374
Protein
UniProt ID Q9BXY4
Protein name R-spondin-3 (Protein with TSP type-1 repeat) (hPWTSR) (Roof plate-specific spondin-3) (hRspo3) (Thrombospondin type-1 domain-containing protein 2)
Protein function Activator of the canonical Wnt signaling pathway by acting as a ligand for LGR4-6 receptors, which acts as a key regulator of angiogenesis. Upon binding to LGR4-6 (LGR4, LGR5 or LGR6), LGR4-6 associate with phosphorylated LRP6 and frizzled recep
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15913 Furin-like_2 41 142 Furin-like repeat, cysteine-rich Domain
PF19028 TSP1_spondin 148 206 Spondin-like TSP1 domain Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed. Expressed at higher level in placenta, small intestine, fetal thymus and lymph node (PubMed:12463421). Highly expressed in endothelial cells (PubMed:26766444). {ECO:0000269|PubMed:12463421, ECO:0000269|PubMed:26
Sequence
MHLRLISWLFIILNFMEYIGSQNASRGRRQRRMHPNVSQGCQGGCATCSDYNGCLSCKPR
LFFALERIGMKQIGVCLSSCPSGYYGTRYPDINKCTKCKADCDTCFNKNFCTKCKSGFYL
HLGKCLDNCPEGLEANNHTMEC
VSIVHCEVSEWNPWSPCTKKGKTCGFKRGTETRVREII
QHPSAKGNLCPPTNETRKCTVQRKKC
QKGERGKKGRERKRKKPNKGESKEAIPDSKSLES
SKEIPEQRENKQQQKKRKVQDKQKSVSVSTVH
Sequence length 272
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Wnt signaling pathway   Regulation of FZD by ubiquitination
RUNX1 regulates transcription of genes involved in WNT signaling
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
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
Crohn Disease Crohn's disease N/A N/A GWAS
Diabetes Type 2 diabetes N/A N/A GWAS
Glioblastoma Glioblastoma N/A N/A GWAS
Hypertension Essential hypertension (PheCode 401.1), Hypertension, Hypertension (confirmatory factor analysis Factor 12), High blood pressure / hypertension, Hypertension (PheCode 401) N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenomatous Polyposis Coli Associate 33320737
Breast Neoplasms Stimulate 33320737
Carcinogenesis Associate 36129915
Cholangiocarcinoma Inhibit 37932819
Cholangitis Sclerosing Associate 28779025, 29055915
Chronic Disease Associate 35218958
Colonic Neoplasms Associate 22895193
Colonic Neoplasms Stimulate 33320737
Colorectal Neoplasms Associate 22895193, 28100566, 35254413, 36129915, 37998393
Colorectal Neoplasms Stimulate 33320737