Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 343637
MIM: 610573
HGNC: 16175
Ensembl: ENSG00000101282
Variants:
dbSNP: 343637
ClinVar: 343637
TCGA: ENSG00000101282
COSMIC: RSPO4
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000101282 | ENST00000217260 | Q2I0M5 |
| ENSG00000101282 | ENST00000400634 | Q2I0M5 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36507580 | 2023 | RSPO4 is a potential risk gene of stages III-IV, grade C periodontitis through effects on innate immune response and oral barrier integrity. | 1 |
| 36507580 | 2023 | RSPO4 is a potential risk gene of stages III-IV, grade C periodontitis through effects on innate immune response and oral barrier integrity. | 1 |
| 34099859 | 2021 | Single-cell RNA sequencing of human nail unit defines RSPO4 onychofibroblasts and SPINK6 nail epithelium. | 2 |
| 34099859 | 2021 | Single-cell RNA sequencing of human nail unit defines RSPO4 onychofibroblasts and SPINK6 nail epithelium. | 2 |
| 22300369 | 2013 | A novel nonsense mutation in RSPO4 gene underlies autosomal recessive congenital anonychia in a Pakistani family. | 5 |
| 22300369 | 2013 | A novel nonsense mutation in RSPO4 gene underlies autosomal recessive congenital anonychia in a Pakistani family. | 5 |
| 23234511 | 2012 | Novel missense mutation in the RSPO4 gene in congenital hyponychia and evidence for a polymorphic initiation codon (p.M1I). | 8 |
| 23234511 | 2012 | Novel missense mutation in the RSPO4 gene in congenital hyponychia and evidence for a polymorphic initiation codon (p.M1I). | 8 |
| 17805348 | 2008 | Mutations in R-spondin 4 (RSPO4) underlie inherited anonychia. | 24 |
| 17914448 | 2008 | RSPO4 is the major gene in autosomal-recessive anonychia and mutations cluster in the furin-like cysteine-rich domains of the Wnt signaling ligand R-spondin 4. | 22 |
| 18070203 | 2008 | A novel missense mutation in RSPO4 gene underlies autosomal recessive congenital anonychia in a consanguineous Pakistani family. | 2 |
| 17805348 | 2008 | Mutations in R-spondin 4 (RSPO4) underlie inherited anonychia. | 24 |
| 17914448 | 2008 | RSPO4 is the major gene in autosomal-recessive anonychia and mutations cluster in the furin-like cysteine-rich domains of the Wnt signaling ligand R-spondin 4. | 22 |
| 18070203 | 2008 | A novel missense mutation in RSPO4 gene underlies autosomal recessive congenital anonychia in a consanguineous Pakistani family. | 2 |
| 17041604 | 2006 | The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia. | 75 |
Citation
Dessen P
RSPO4 (R-spondin 4)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/72914/rspo4-(r-spondin-4)
