Statements (22)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:gene
|
gptkbp:alternativeName |
R-spondin family member 4
|
gptkbp:associatedWith |
anonychia congenita
|
gptkbp:discoveredIn |
2005
|
gptkbp:encodes |
R-spondin-4
|
gptkbp:Entrez_Gene_ID |
161833
|
gptkbp:expressedIn |
nail matrix
|
gptkbp:fullName |
R-spondin 4
|
gptkbp:function |
Wnt signaling pathway regulation
|
gptkbp:geneType |
protein-coding
|
gptkbp:HGNC_ID |
HGNC:24666
|
https://www.w3.org/2000/01/rdf-schema#label |
RSPO4 gene
|
gptkbp:locatedOnChromosome |
gptkb:20p13
chromosome 20 |
gptkbp:mutationAssociatedWith |
nail development defects
|
gptkbp:numberOfExons |
4
|
gptkbp:OMIM |
610573
|
gptkbp:organism |
gptkb:Homo_sapiens
|
gptkbp:orthologInMouse |
Rspo4
|
gptkbp:UniProtID |
Q2MKA7
|
gptkbp:bfsParent |
gptkb:R-spondin_proteins
|
gptkbp:bfsLayer |
7
|