| Type | Description |
|---|---|
| Definition | WD repeat domain 19 |
| Date | Results | Publications |
|---|---|---|
| 2021-02-06 13:58:00 | A novel homozygous mutation in WDR19 induces disorganization of microtubules in sperm flagella and nonsyndromic asthenoteratospermia. | 32323121 |
| 2018-05-12 12:10:00 | Case Reports: that WDR19 mutations can cause dysplastic kidney in addition to nephronophthisis in infants with Sensenbrenner syndrome. | 28621010 |
| 2016-08-06 11:47:00 | Nephronophthisis 13 (Autosomal Recessive Polycystic Kidney Disease) is associated with mutations in the WDR19 gene.Caroli disease is a major extra-renal phenotype associated with mutations in WDR19 in the Korean population. | 25726036 |
| 2015-02-21 11:13:00 | WDR19 mutations can cause a broad spectrum of ciliopathies that extends to Jeune and Sensenbrenner syndromes, RP and renal NPHP-like phenotypes | 24504730 |
| 2014-03-08 11:18:00 | Mutations in WDR19 gene is associated with Caroli disease. | 23559409 |
| Type | IDs |
|---|---|
| Synonymous | ATD5, CED4, DYF-2, IFT144, NPHP13, ORF26, Oseg6, PWDMP, SRTD5 |
| Gene |
UniProtKB-ID:
WDR19_HUMAN,
B4DGR6_HUMAN
UniprotKB:
Q8NEZ3,
B4DGR6
UniParc:
UPI0000D60E16,
UPI00017A6E1A,
UPI000004CC24
EMBL:
AK026780,
AC093855,
AB046858,
AY029257,
CH471069,
AK294730,
BC032578
Ensembl:
ENSG00000157796
KO:
hsa:57728
|
| Nucleutide sequences |
EMBL-CDS:
EAW92921.1,
AAK38745.1,
BAB13464.1,
AAH32578.1,
BAB15550.1,
BAG57877.1
Ensembl_TRS:
ENST00000399820
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000382717
RefSeq:
XP_011512027.1,
XP_011512029.1,
NP_079408.3,
XP_016863990.1,
NP_001304853.1,
XP_011512028.1,
XP_011512026.1
|
| Others |
UniRef100:
UniRef100_Q8NEZ3
UniRef90:
UniRef90_Q8NEZ3
UniRef50:
UniRef50_Q8NEZ3
UniGene:
Hs.438482
CCDS:
CCDS47042.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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