| Type | Description |
|---|---|
| Definition | R-spondin 4 |
| Date | Results | Publications |
|---|---|---|
| 2013-08-10 10:54:00 | A novel nonsense mutation in RSPO4 gene involves in the development of anonychia congenita. | 22300369 |
| 2013-04-20 13:55:00 | c.3G>A mutation is not sufficient to cause the congenital hyponychia and could be considered a polymorphism. | 23234511 |
| 2010-01-21 00:00:00 | These findings expand our understanding of the role of RSPO4 in nail development and disease. | 17805348 |
| 2010-01-21 00:00:00 | 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. | 17914448 |
| 2010-01-21 00:00:00 | 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 | 18070203 |
| Type | IDs |
|---|---|
| Synonymous | C20orf182, CRISTIN4 |
| Gene |
UniProtKB-ID:
RSPO4_HUMAN
UniprotKB:
Q2I0M5
UniParc:
UPI00001D8320,
UPI000068F523
EMBL:
AL050325,
DQ355152,
AK122609
Ensembl:
ENSG00000101282
KO:
hsa:343637
|
| Nucleutide sequences |
EMBL-CDS:
ABC75877.1
Ensembl_TRS:
ENST00000217260,
ENST00000400634
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000217260,
ENSP00000383475
RefSeq:
XP_016883328.1,
NP_001025042.2,
NP_001035096.1
|
| Others |
UniRef100:
UniRef100_Q2I0M5
UniRef90:
UniRef90_Q2I0M5
UniRef50:
UniRef50_Q2I0M5
UniGene:
Hs.444980
CCDS:
CCDS42845.1,
CCDS42846.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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