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Gene Symbol RSPO3
Synonyms CRISTIN1 | PWTSR | THSD2
Gene Description RSPO3, R-spondin 3, encodes for one of the secreted proteins in the TSR1-containing protein family, which plays a role in canonical Wnt signaling due to its furin repeat domains (PMID: 24980904). RSPO3 fusions with PTPRK (PTPRK-RPSO3) have been frequently identified in colorectal cancer (PMID: 26924569) and decreased RSPO3 expression has been observed with prostate cancer invasiveness (PMID: 30987640), whereas overexpression of RSPO3 has been observed in bladder cancer (PMID: 30329043).

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
A185T missense unknown RSPO3 A185T lies within the TSP type-1 domain of the Rspo3 protein (UniProt.org). A185T has not been characterized in the scientific literature and therefore, its effect on Rspo3 protein function is unknown (PubMed, Mar 2020).
A231V missense unknown RSPO3 A231V does not lie within any known functional domains of the Rspo3 protein (UniProt.org). A231V has not been characterized in the scientific literature and therefore, its effect on Rspo3 protein function is unknown (PubMed, Mar 2020).
C105S missense unknown RSPO3 C105S lies within the FU repeat 2 of the Rspo3 protein (UniProt.org). C105S has not been characterized and therefore, its effect on Rspo3 protein function is unknown (PubMed, Mar 2020).
C129* nonsense unknown RSPO3 C129* results in a premature truncation of the Rspo3 protein at amino acid 129 of 272 (UniProt.org). C129* has been identified in sequencing studies (PMID: 22941188), but has not been biochemically characterized and therefore, its effect on Rspo3 protein function is unknown (PubMed, Mar 2020).
D50H missense unknown RSPO3 D50H lies within the FU repeat 1 of the Rspo3 protein (UniProt.org). D50H has not been characterized in the scientific literature and therefore, its effect on Rspo3 protein function is unknown (PubMed, Mar 2020).
dec exp none no effect RSPO3 dec exp indicates decreased expression of the Rspo3 protein and/or mRNA. However, the mechanism causing the decreased expression is unspecified.
E149K missense unknown RSPO3 E149K lies within the TSP type-1 domain of the Rspo3 protein (UniProt.org). E149K has not been characterized in the scientific literature and therefore, its effect on Rspo3 protein function is unknown (PubMed, Mar 2020).
E178* nonsense unknown RSPO3 E178* results in a premature truncation of the Rspo3 protein at amino acid 178 of 272 (UniProt.org). E178* has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Rspo3 protein function is unknown (PubMed, Mar 2020).
E178K missense unknown RSPO3 E178K lies within the TSP type-1 domain of the Rspo3 protein (UniProt.org). E178K has not been characterized in the scientific literature and therefore, its effect on Rspo3 protein function is unknown (PubMed, Mar 2020).
E239D missense unknown RSPO3 E239D does not lie within any known functional domains of the Rspo3 protein (UniProt.org). E239D has not been characterized in the scientific literature and therefore, its effect on Rspo3 protein function is unknown (PubMed, Mar 2020).
E239K missense unknown RSPO3 E239K does not lie within any known functional domains of the Rspo3 protein (UniProt.org). E239K has not been characterized in the scientific literature and therefore, its effect on Rspo3 protein function is unknown (PubMed, Mar 2020).
E66* nonsense loss of function - predicted RSPO3 E66* results in a premature truncation of the Rspo3 protein at amino acid 66 of 272 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), E66* is predicted to lead to a loss of Rspo3 protein function.
E66K missense unknown RSPO3 E66K lies within the FU repeat 1 of the Rspo3 protein (UniProt.org). E66K has been identified in sequencing studies (PMID: 28854174), but has not been biochemically characterized and therefore, its effect on Rspo3 protein function is unknown (PubMed, Mar 2020).
fusion fusion unknown RSPO3 fusion indicates a fusion of the RSPO3 gene, but the fusion partner is unknown.
G123E missense unknown RSPO3 G123E lies within the FU repeat 2 of the Rspo3 protein (UniProt.org). G123E has not been characterized in the scientific literature and therefore, its effect on Rspo3 protein function is unknown (PubMed, Mar 2020).
G163E missense unknown RSPO3 G163E lies within the TSP type-1 domain of the Rspo3 protein (UniProt.org). G163E has not been characterized in the scientific literature and therefore, its effect on Rspo3 protein function is unknown (PubMed, Mar 2020).
G171E missense unknown RSPO3 G171E lies within the TSP type-1 domain of the Rspo3 protein (UniProt.org). G171E has not been characterized in the scientific literature and therefore, its effect on Rspo3 protein function is unknown (PubMed, Mar 2020).
G212R missense unknown RSPO3 G212R does not lie within any known functional domains of the Rspo3 protein (UniProt.org). G212R has been identified in sequencing studies (PMID: 22941189), but has not been biochemically characterized and therefore, its effect on Rspo3 protein function is unknown (PubMed, Mar 2020).
G215Efs*69 frameshift unknown RSPO3 G215Efs*69 indicates a shift in the reading frame starting at amino acid 215 and terminating 69 residues downstream causing a premature truncation of the 272 amino acid Rspo3 protein (UniProt.org). G215Efs*69 has not been characterized in the scientific literature and therefore, its effect on Rspo3 protein function is unknown (PubMed, Mar 2020).
H138N missense unknown RSPO3 H138N does not lie within any known functional domains of the Rspo3 protein (UniProt.org). H138N has not been characterized in the scientific literature and therefore, its effect on Rspo3 protein function is unknown (PubMed, Mar 2020).
inact mut unknown loss of function RSPO3 inact mut indicates that this variant results in a loss of function of the Rspo3 protein. However, the specific amino acid change has not been identified.
K115Q missense unknown RSPO3 K115Q lies within the FU repeat 2 of the Rspo3 protein (UniProt.org). K115Q has not been characterized in the scientific literature and therefore, its effect on Rspo3 protein function is unknown (PubMed, Mar 2020).
K161E missense unknown RSPO3 K161E lies within the TSP type-1 domain of the Rspo3 protein (UniProt.org). K161E has been identified in sequencing studies (PMID: 26214590), but has not been biochemically characterized and therefore, its effect on Rspo3 protein function is unknown (PubMed, Mar 2020).
K169N missense unknown RSPO3 K169N lies within the TSP type-1 domain of the Rspo3 protein (UniProt.org). K169N has not been characterized in the scientific literature and therefore, its effect on Rspo3 protein function is unknown (PubMed, Mar 2020).
K58N missense unknown RSPO3 K58N lies within the FU repeat 1 of the Rspo3 protein (UniProt.org). K58N has not been characterized in the scientific literature and therefore, its effect on Rspo3 protein function is unknown (PubMed, Mar 2020).
L122H missense unknown RSPO3 L122H lies within the FU repeat 2 of the Rspo3 protein (UniProt.org). L122H has not been characterized in the scientific literature and therefore, its effect on Rspo3 protein function is unknown (PubMed, Mar 2020).
L126F missense unknown RSPO3 L126F lies within the FU repeat 2 of the Rspo3 protein (UniProt.org). L126F has not been characterized in the scientific literature and therefore, its effect on Rspo3 protein function is unknown (PubMed, Mar 2020).
L55V missense unknown RSPO3 L55V lies within the FU repeat 1 of the Rspo3 protein (UniProt.org). L55V has not been characterized in the scientific literature and therefore, its effect on Rspo3 protein function is unknown (PubMed, Mar 2020).
mutant unknown unknown RSPO3 mutant indicates an unspecified mutation in the RSPO3 gene.
N23K missense unknown RSPO3 N23K does not lie within any known functional domains of the Rspo3 protein (UniProt.org). N23K has been identified in sequencing studies (PMID: 22941189), but has not been biochemically characterized and therefore, its effect on Rspo3 protein function is unknown (PubMed, Mar 2020).
over exp none no effect RSPO3 over exp indicates an over expression of the Rspo3 protein. However, the mechanism causing the over expression is unspecified.
P183H missense unknown RSPO3 P183H lies within the TSP type-1 domain of the Rspo3 protein (UniProt.org). P183H has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Rspo3 protein function is unknown (PubMed, Mar 2020).
P35L missense unknown RSPO3 P35L lies within the FU repeat 1 of the Rspo3 protein (UniProt.org). P35L has not been characterized in the scientific literature and therefore, its effect on Rspo3 protein function is unknown (PubMed, Mar 2020).
P35S missense unknown RSPO3 P35S lies within the FU repeat 1 of the Rspo3 protein (UniProt.org). P35S has not been characterized in the scientific literature and therefore, its effect on Rspo3 protein function is unknown (PubMed, Mar 2020).
Q181H missense unknown RSPO3 Q181H lies within the TSP type-1 domain of the Rspo3 protein (UniProt.org). Q181H has not been characterized in the scientific literature and therefore, its effect on Rspo3 protein function is unknown (PubMed, Mar 2020).
Q260* nonsense unknown RSPO3 Q260* results in a premature truncation of the Rspo3 protein at amino acid 260 of 272 (UniProt.org). Q260* has not been characterized in the scientific literature and therefore, its effect on Rspo3 protein function is unknown (PubMed, Mar 2020).
R177* nonsense unknown RSPO3 R177* results in a premature truncation of the Rspo3 protein at amino acid 177 of 272 (UniProt.org). R177* has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Rspo3 protein function is unknown (PubMed, Mar 2020).
R257Q missense unknown RSPO3 R257Q does not lie within any known functional domains of the Rspo3 protein (UniProt.org). R257Q has not been characterized in the scientific literature and therefore, its effect on Rspo3 protein function is unknown (PubMed, Mar 2020).
R4* nonsense loss of function - predicted RSPO3 R4* results in a premature truncation of the Rspo3 protein at amino acid 4 of 272 (UniProt.org). Due to the loss of all known functional domains, R4* is predicted to result in a loss of Rspo3 protein function (UniProt.org).
R67T missense unknown RSPO3 R67T lies within the FU repeat 1 of the Rspo3 protein (UniProt.org). R67T has been identified in sequencing studies (PMID: 22722201), but has not been biochemically characterized and therefore, its effect on Rspo3 protein function is unknown (PubMed, Mar 2020).
R88* nonsense unknown RSPO3 R88* results in a premature truncation of the Rspo3 protein at amino acid 88 of 272 (UniProt.org). R88* has not been characterized in the scientific literature and therefore, its effect on Rspo3 protein function is unknown (PubMed, Mar 2020).
R88Q missense unknown RSPO3 R88Q does not lie within any known functional domains of the Rspo3 protein (UniProt.org). R88Q has not been characterized in the scientific literature and therefore, its effect on Rspo3 protein function is unknown (PubMed, Mar 2020).
S265L missense unknown RSPO3 S265L does not lie within any known functional domains of the Rspo3 protein (UniProt.org). S265L has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Rspo3 protein function is unknown (PubMed, Mar 2020).
T139A missense unknown RSPO3 T139A does not lie within any known functional domains of the Rspo3 protein (UniProt.org). T139A has not been characterized in the scientific literature and therefore, its effect on Rspo3 protein function is unknown (PubMed, Mar 2020).
T160K missense unknown RSPO3 T160K lies within the TSP type-1 domain of the Rspo3 protein (UniProt.org). T160K has not been characterized in the scientific literature and therefore, its effect on Rspo3 protein function is unknown (PubMed, Mar 2020).
T193A missense unknown RSPO3 T193A lies within the TSP type-1 domain of the Rspo3 protein (UniProt.org). T193A has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Rspo3 protein function is unknown (PubMed, Mar 2020).