RSPO2 R-spondin 2
Gene ID: 340419, updated on 4-Jan-2025Gene type: protein coding
Also known as: HHRRD; TETAMS2; CRISTIN2
- See all available tests in GTR for this gene
- Go to complete Gene record for RSPO2
- Go to Variation Viewer for RSPO2 variants
Summary
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 translocation including this locus that results in the formation of a gene fusion has been identified in multiple human cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study identifies susceptibility loci for ossification of the posterior longitudinal ligament of the spine. GeneReviews: Not available | |
| Humerofemoral hypoplasia with radiotibial ray deficiency | See labs |
| Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia. GeneReviews: Not available | |
| Tetraamelia syndrome 2 | See labs |
| Wnt signaling and Dupuytren's disease. GeneReviews: Not available |
Genomic context
- Location:
- 8q23.1
- Sequence:
- Chromosome: 8; NC_000008.11 (107899316..108083620, complement)
- Total number of exons:
- 7
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for RSPO2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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