RSPO4 Chromosome 20
R-spondin 4
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What This Gene Does
This gene encodes a member of the R-spondin family of proteins that share a common domain organization consisting of a signal peptide, cysteine-rich/furin-like domain, thrombospondin domain and a C-terminal basic region. The encoded protein may be involved in activation of Wnt/beta-catenin signaling pathways. Mutations in this gene are associated with anonychia congenital. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2009]
Gene Info
Gene Group
R-spondin family
Locus Type
gene with protein product
Location
20p13
Ensembl
ENSG00000101282
Associated Conditions (2)
Nonsyndromic congenital nail disorder 4
Inborn genetic diseases
Key Variants
RS2514350543
Pathogenic
Health Risk
RS387907026
Pathogenic
Nonsyndromic congenital nail disorder 4, Nonsyndromic congenital nail disorder 4
Health Risk
RS387907027
Pathogenic
Nonsyndromic congenital nail disorder 4, Nonsyndromic congenital nail disorder 4
Health Risk
RS387907028
Pathogenic
Nonsyndromic congenital nail disorder 4, Nonsyndromic congenital nail disorder 4
Health Risk
RS74315420
Pathogenic
Nonsyndromic congenital nail disorder 4, Nonsyndromic congenital nail disorder 4
Health Risk
RS74315421
Pathogenic
Nonsyndromic congenital nail disorder 4, Nonsyndromic congenital nail disorder 4
Health Risk
RS74315422
Pathogenic
Nonsyndromic congenital nail disorder 4, Nonsyndromic congenital nail disorder 4
Health Risk
RS74315423
Pathogenic
Nonsyndromic congenital nail disorder 4, Nonsyndromic congenital nail disorder 4
Health Risk
RS775644973
Pathogenic
Inborn genetic diseases, Nonsyndromic congenital nail disorder 4, Inborn genetic diseases
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2514350543 | Health Risk | Pathogenic | — |
| RS387907026 | Health Risk | Pathogenic | Nonsyndromic congenital nail disorder 4, Nonsyndromic congenital nail disorder 4 |
| RS387907027 | Health Risk | Pathogenic | Nonsyndromic congenital nail disorder 4, Nonsyndromic congenital nail disorder 4 |
| RS387907028 | Health Risk | Pathogenic | Nonsyndromic congenital nail disorder 4, Nonsyndromic congenital nail disorder 4 |
| RS74315420 | Health Risk | Pathogenic | Nonsyndromic congenital nail disorder 4, Nonsyndromic congenital nail disorder 4 |
| RS74315421 | Health Risk | Pathogenic | Nonsyndromic congenital nail disorder 4, Nonsyndromic congenital nail disorder 4 |
| RS74315422 | Health Risk | Pathogenic | Nonsyndromic congenital nail disorder 4, Nonsyndromic congenital nail disorder 4 |
| RS74315423 | Health Risk | Pathogenic | Nonsyndromic congenital nail disorder 4, Nonsyndromic congenital nail disorder 4 |
| RS775644973 | Health Risk | Pathogenic | Inborn genetic diseases, Nonsyndromic congenital nail disorder 4, Inborn genetic diseases |