Statements (27)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
R-spondin family member 4
|
| gptkbp:associatedWith |
anonychia congenita
|
| gptkbp:discoveredIn |
2006
|
| gptkbp:encodes |
R-spondin-4 protein
|
| gptkbp:Entrez_Gene_ID |
gptkb:ENSG00000125845
84870 |
| gptkbp:expressedIn |
various tissues
|
| gptkbp:fullName |
R-spondin 4
|
| gptkbp:function |
activates Wnt/β-catenin signaling pathway
|
| gptkbp:HGNC_ID |
HGNC:24666
|
| https://www.w3.org/2000/01/rdf-schema#label |
RSPO4
|
| gptkbp:length |
234 amino acids
|
| gptkbp:locatedOnChromosome |
gptkb:20p13
20 |
| gptkbp:mutationAssociatedWith |
causes congenital absence of nails
|
| gptkbp:OMIM |
610573
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
Rspo4
|
| gptkbp:proteinFamily |
R-spondin family
|
| gptkbp:relatedTo |
gptkb:RSPO1
gptkb:RSPO2 gptkb:RSPO3 |
| gptkbp:UniProtID |
Q2MKA7
|
| gptkbp:bfsParent |
gptkb:R-spondin
gptkb:R-spondin_proteins |
| gptkbp:bfsLayer |
7
|