Property Summary

NCBI Gene PubMed Count 15
PubMed Score 27.62
PubTator Score 17.29

Knowledge Summary

Patent

No data available

Expression

Gene RIF (6)

PMID Text
23234511 c.3G>A mutation is not sufficient to cause the congenital hyponychia and could be considered a polymorphism.
22300369 A novel nonsense mutation in RSPO4 gene involves in the development of anonychia congenita.
18070203 identification of a missense mutation c.199G > C (p.Gly67Arg) in the RSPO4 gene in a large consanguineous Pakistani family with an autosomal recessive form of anonychia
17914448 The previously unknown mutations c.190C>T (p.Arg64Cys) in exon 2 and c.301C>T (p.Gln101X) in exon 3 were identified in RSPO4, thereby corroborating R-spondin 4 as the major protein in autosomal-recessive anonychia.
17805348 These findings expand our understanding of the role of RSPO4 in nail development and disease.
17041604 RSPO4 has a crucial role in nail morphogenesis.

AA Sequence

MRAPLCLLLLVAHAVDMLALNRRKKQVGTGLGGNCTGCIICSEENGCSTCQQRLFLFIRREGIRQYGKCL      1 - 70
HDCPPGYFGIRGQEVNRCKKCGATCESCFSQDFCIRCKRQFYLYKGKCLPTCPPGTLAHQNTRECQGECE     71 - 140
LGPWGGWSPCTHNGKTCGSAWGLESRVREAGRAGHEEAATCQVLSESRKCPIQRPCPGERSPGQKKGRKD    141 - 210
RRPRKDRKLDRRLDVRPRQPGLQP                                                  211 - 234
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Text Mined References (17)

PMID Year Title
24431302 2014 Wnt signaling in midbrain dopaminergic neuron development and regenerative medicine for Parkinson's disease.
23234511 2012 Novel missense mutation in the RSPO4 gene in congenital hyponychia and evidence for a polymorphic initiation codon (p.M1I).
22300369 A novel nonsense mutation in RSPO4 gene underlies autosomal recessive congenital anonychia in a Pakistani family.
21909076 2011 LGR4 and LGR5 are R-spondin receptors mediating Wnt/?-catenin and Wnt/PCP signalling.
21727895 2011 Lgr5 homologues associate with Wnt receptors and mediate R-spondin signalling.
18779895 2008 Congenital hyponychia without RSPO4 mutation.
18070203 2008 A novel missense mutation in RSPO4 gene underlies autosomal recessive congenital anonychia in a consanguineous Pakistani family.
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.
17805348 2008 Mutations in R-spondin 4 (RSPO4) underlie inherited anonychia.
17596144 2007 The Wnt signalling ligand RSPO4, causing inherited anonychia, is not mutated in a patient with congenital nail hypoplasia/aplasia with underlying skeletal defects.
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