RSPO3 (R-spondin 3)

2012-10-01  

Identity

HGNC
LOCATION
6q22.33
LOCUSID
ALIAS
CRISTIN1,PWTSR,THSD2
FUSION GENES

Other Information

Locus ID:

NCBI: 84870
MIM: 610574
HGNC: 20866
Ensembl: ENSG00000146374

Variants:

dbSNP: 84870
ClinVar: 84870
TCGA: ENSG00000146374
COSMIC: RSPO3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000146374ENST00000356698Q9BXY4
ENSG00000146374ENST00000368317Q9BXY4

Expression (GTEx)

0
10
20
30
40
50
60
70
80

Pathways

PathwaySourceExternal ID
Signal TransductionREACTOMER-HSA-162582
Signaling by WntREACTOMER-HSA-195721
TCF dependent signaling in response to WNTREACTOMER-HSA-201681
Regulation of FZD by ubiquitinationREACTOMER-HSA-4641263

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
209356292010Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.396
228951932012Recurrent R-spondin fusions in colon cancer.349
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
189786782008Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts.21
269245692016Frequent PTPRK-RSPO3 fusions and RNF43 mutations in colorectal traditional serrated adenoma.20
255313222015Aberrant RSPO3-LGR4 signaling in Keap1-deficient lung adenocarcinomas promotes tumor aggressiveness.19
248477612014RSPO fusion transcripts in colorectal cancer in Japanese population.18
267331302016Sequence variants in the PTCH1 gene associate with spine bone mineral density and osteoporotic fractures.17
124634212002Cloning and identification of a cDNA that encodes a novel human protein with thrombospondin type I repeat domain, hPWTSR.16
267358872016RUNX1 and FOXP3 interplay regulates expression of breast cancer related genes.15

Citation

Dessen P

RSPO3 (R-spondin 3)

Atlas Genet Cytogenet Oncol Haematol. 2012-10-01

Online version: http://atlasgeneticsoncology.org/gene/52917/rspo3