RSPO2 Chromosome 8
R-spondin 2
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What This Gene Does
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]
Gene Info
Gene Group
R-spondin family
Locus Type
gene with protein product
Location
8q23.1
Ensembl
ENSG00000147655
Associated Conditions (2)
Tetraamelia syndrome 2
Humerofemoral hypoplasia with radiotibial ray deficiency
Key Variants
RS1554579568
Likely pathogenic
Tetraamelia syndrome 2, Tetraamelia syndrome 2
Health Risk
RS1554576888
Pathogenic
Tetraamelia syndrome 2, Tetraamelia syndrome 2
Health Risk
RS758888137
Pathogenic
Humerofemoral hypoplasia with radiotibial ray deficiency, Humerofemoral hypoplasia with radiotibial ray deficiency
Health Risk
RS773297160
Pathogenic
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1554579568 | Health Risk | Likely pathogenic | Tetraamelia syndrome 2, Tetraamelia syndrome 2 |
| RS1554576888 | Health Risk | Pathogenic | Tetraamelia syndrome 2, Tetraamelia syndrome 2 |
| RS758888137 | Health Risk | Pathogenic | Humerofemoral hypoplasia with radiotibial ray deficiency, Humerofemoral hypoplasia with radiotibial ray deficiency |
| RS773297160 | Health Risk | Pathogenic | — |