| Type | Description |
|---|---|
| Definition | WD repeat domain 72 |
| Date | Results | Publications |
|---|---|---|
| 2020-02-01 12:47:00 | WDR72 mutations cause a syndromic form of AI and improve our ability to diagnose AI caused by WDR72 defects | 30779877 |
| 2019-11-16 12:11:00 | WDR72 mutations associated with dRTA have not been previously described. This is the first identification of pathogenic variations in WDR72 as a cause of hereditary dRTA. | 30028003 |
| 2017-01-28 10:42:00 | Based on whole exome sequencing in a large consanguineous amelogenesis imperfecta pedigree, an evidence for presence of a multi-exonic WDR72 deletion has been obtained. | 27259663 |
| 2015-06-20 10:35:00 | WDR72 has a major role in enamel mineralization, most notably during the maturation stage, suggesting a function involving endocytic vesicle trafficking, and the removal of amelogenin proteins. | 25008349 |
| 2012-05-26 10:45:00 | The rs11056571, p=1.68x10(-8); and rs2300290, p=1.09x10(-8)). rs719714 downstream of WDR72 was associated with executive functioning. | 22126837 |
| Type | IDs |
|---|---|
| Synonymous | AI2A3 |
| Gene |
UniProtKB-ID:
WDR72_HUMAN,
A0A087WTC3_HUMAN
UniprotKB:
Q3MJ13,
A0A087WTC3
UniParc:
UPI000040896D,
UPI00001D777D
EMBL:
BX537884,
BC101614,
BC101616,
AC066611,
AC024061,
AC066614,
AK096055
Ensembl:
ENSG00000166415
KO:
hsa:256764
|
| Nucleutide sequences |
EMBL-CDS:
CAD97880.1,
AAI01615.1,
AAI01617.1,
BAC04689.1
Ensembl_TRS:
ENST00000396328,
ENST00000360509,
ENST00000614174
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000379619,
ENSP00000353699,
ENSP00000477754
RefSeq:
XP_011519735.1,
XP_016877550.1,
XP_011519738.1,
NP_001264105.1,
NP_877435.3,
XP_011519737.1,
XP_011519739.1
|
| Others |
UniRef100:
UniRef100_Q3MJ13,
UniRef100_A0A087WTC3
UniRef90:
UniRef90_A0A087WTC3,
UniRef90_Q3MJ13
UniRef50:
UniRef50_A0A087WTC3,
UniRef50_Q3MJ13
UniGene:
Hs.122125
CCDS:
CCDS10151.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
{{protein.nucleotideVersion}}
Ensembl: {{protein.nucleotideEnsembl}} |
{{protein.proteinVersion}}
Ensembl: {{protein.proteinEnsembl}} |
{{uniprot}} , |
Definition: {{{protein.definition}}}Transcript Veriant:{{protein.transcriptVeriant}} Status: {{protein.status}} |
||||
| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| 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}} - |
{{conservedDomain.comments == '' || conservedDomain.comments == null ? "-" : conservedDomain.comments }} |
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}} - |
{{conservedDomain.comments == '' || conservedDomain.comments == null ? "-" : conservedDomain.comments }} |
||||
暂无数据
| 排名 | 科研单位 | 文献 |
|---|---|---|
| {{affIndex+1}} |
{{aff.value}} |
{{aff.size}} |
目前还没有研究热点单位
| 排名 | 研究人员 | 文献 |
|---|---|---|
| {{authorIndex+1}} |
{{author.value}} |
{{author.size}} |
目前还没有研究热点人员