Statements (30)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
Cristin 2
R-spondin family member 2 |
| gptkbp:associatedWith |
gptkb:tetra-amelia_syndrome
lung hypoplasia |
| gptkbp:discoveredIn |
2005
|
| gptkbp:encodes |
R-spondin-2 protein
|
| gptkbp:Entrez_Gene_ID |
283987
ENSG00000163466 |
| gptkbp:expressedIn |
gptkb:cancer
gptkb:placenta limb bud |
| gptkbp:fullName |
R-spondin 2
|
| gptkbp:function |
activates Wnt/β-catenin signaling pathway
involved in limb and lung development regulates embryonic development |
| gptkbp:HGNC_ID |
HGNC:24666
|
| https://www.w3.org/2000/01/rdf-schema#label |
RSPO2 gene
|
| gptkbp:locatedOnChromosome |
chromosome 8
8q23.1 |
| gptkbp:mutationAssociatedWith |
causes limb malformations
causes lung development defects |
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
Rspo2
|
| gptkbp:pathway |
gptkb:Wnt_signaling_pathway
|
| gptkbp:proteinFamily |
R-spondin family
|
| gptkbp:symbol |
gptkb:RSPO2
|
| gptkbp:UniProtID |
Q6UXX9
|
| gptkbp:bfsParent |
gptkb:R-spondin_proteins
|
| gptkbp:bfsLayer |
7
|