RSPO3 R-spondin 3
Gene ID: 84870, updated on 5-Mar-2024Gene type: protein coding
Also known as: PWTSR; THSD2; CRISTIN1
- See all available tests in GTR for this gene
- Go to complete Gene record for RSPO3
- Go to Variation Viewer for RSPO3 variants
Summary
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 growth and disease pathogenesis. Genome-wide association studies suggest a correlation of this gene with bone mineral density and risk of fracture. This gene may be involved in tumor development. [provided by RefSeq, Jul 2013]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Common variants at 6q22 and 17q21 are associated with intracranial volume. GeneReviews: Not available | |
| Discovery and refinement of loci associated with lipid levels. GeneReviews: Not available | |
| Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium. GeneReviews: Not available | |
| Genome-wide association analysis of blood-pressure traits in African-ancestry individuals reveals common associated genes in African and non-African populations. GeneReviews: Not available | |
| Genome-wide association study using extreme truncate selection identifies novel genes affecting bone mineral density and fracture risk. GeneReviews: Not available | |
| Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. GeneReviews: Not available | |
| Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. GeneReviews: Not available | |
| Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. GeneReviews: Not available | |
| Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits. GeneReviews: Not available | |
| Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution. GeneReviews: Not available | |
| Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations. GeneReviews: Not available | |
| Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment. GeneReviews: Not available | |
| Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels. GeneReviews: Not available |
Genomic context
- Location:
- 6q22.33
- Sequence:
- Chromosome: 6; NC_000006.12 (127118671..127199481)
- Total number of exons:
- 6
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for RSPO3 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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