Entity Details

Primary name RSPO4_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ2I0M5
EntryNameRSPO4_HUMAN
FullNameR-spondin-4
TaxID9606
Evidenceevidence at protein level
Length234
SequenceStatuscomplete
DateCreated2006-05-16
DateModified2021-06-02

Ontological Relatives

GenesRSPO4

GO terms

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GOName
GO:0005576 extracellular region
GO:0008201 heparin binding
GO:0016055 Wnt signaling pathway
GO:0030177 positive regulation of Wnt signaling pathway
GO:0035878 nail development

Subcellular Location

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Subcellular Location
Secreted

Domains

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DomainNameCategoryType
IPR000884 Thrombospondin type-1 (TSP1) repeatRepeatRepeat
IPR006212 Furin-like repeatRepeatRepeat
IPR009030 Growth factor receptor cysteine-rich domain superfamilyFamilyHomologous superfamily
IPR042993 R-spondin-2/4FamilyFamily
IPR043601 R-spondin, Fu-CRD domainDomainDomain

Diseases

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Disease IDSourceNameDescription
206800 OMIMNail disorder, non-syndromic congenital, 4 (NDNC4)A nail disorder characterized by congenital anonychia or its milder phenotypic variant hyponychia. Anonychia/hyponychia is the absence or severe hypoplasia of all fingernails and toenails without significant bone anomalies. The disease is caused by variants affecting the gene represented in this entry.