RSPO4 (R-spondin 4)

2014-11-01  

Identity

HGNC
LOCATION
20p13
LOCUSID
ALIAS
C20orf182,CRISTIN4

Other Information

Locus ID:

NCBI: 343637
MIM: 610573
HGNC: 16175
Ensembl: ENSG00000101282

Variants:

dbSNP: 343637
ClinVar: 343637
TCGA: ENSG00000101282
COSMIC: RSPO4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000101282ENST00000217260Q2I0M5
ENSG00000101282ENST00000400634Q2I0M5

Expression (GTEx)

0
5
10
15
20
25

Pathways

PathwaySourceExternal ID
Signal TransductionREACTOMER-HSA-162582
Signaling by WntREACTOMER-HSA-195721
TCF dependent signaling in response to WNTREACTOMER-HSA-201681
Regulation of FZD by ubiquitinationREACTOMER-HSA-4641263

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
170416042006The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia.0
178053482008Mutations in R-spondin 4 (RSPO4) underlie inherited anonychia.0
179144482008RSPO4 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 4.0
180702032008A novel missense mutation in RSPO4 gene underlies autosomal recessive congenital anonychia in a consanguineous Pakistani family.0
223003692013A novel nonsense mutation in RSPO4 gene underlies autosomal recessive congenital anonychia in a Pakistani family.0
232345112012Novel missense mutation in the RSPO4 gene in congenital hyponychia and evidence for a polymorphic initiation codon (p.M1I).0

Citation

Dessen P

RSPO4 (R-spondin 4)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72914/rspo4