| Type | Description |
|---|---|
| Definition | dedicator of cytokinesis 8 |
| Date | Results | Publications |
|---|---|---|
| 2021-02-20 13:33:00 | Prenatal detection of terminal 9p24.3 microduplication encompassing DOCK8 gene: A variant of likely benign. | 33545980 |
| 2021-02-13 13:21:00 | Exome-first Approach Identified Novel Homozygous Dedicator of Cytokinesis 8 (DOCK8) Mutations in Three Unrelated Iranian Pedigrees Suspected with Hyper-IgE Syndrome. | 32372632 |
| 2020-06-06 11:23:00 | The OCK8 is a Cdc42-specific GEF that regulates interstitial migration of dendritic cells. | 31630188 |
| 2020-03-14 11:37:00 | This comprehensive cytokine profile in HIES patients reveals distinctive biomarkers that differentiate between the DOCK8-deficient and AD patients. | 30252138 |
| 2019-12-07 12:30:00 | Dedicator of cytokinesis 8 (DOCK8) deficiency (MIM #243700) is a rare disease, leads to a combined primary immunodeficiency (PID), and accounts for the autosomal recessive-hyper immunoglobulin E syndrome (AR-HIES). DOCK8 deficiency status characterizes by recurrent infections. Whole-exome sequencing supported the diagnosis of PID by identifying a homozygous DOCK8 mutation. | 31242861 |
| Type | IDs |
|---|---|
| Synonymous | HEL-205, MRD2, ZIR8 |
| Gene |
UniProtKB-ID:
DOCK8_HUMAN,
E2J6M5_HUMAN,
E2J6M6_HUMAN
UniprotKB:
Q8NF50,
E2J6M5,
E2J6M6
UniParc:
UPI0001DE3C7F,
UPI0001DE3C7E,
UPI0001B7911B,
UPI000034ECCE,
UPI0000E0B9E5,
UPI00015969FE
EMBL:
AL161725,
AL158832,
AL832270,
AK024436,
AK074081,
BC112894,
AL583913,
AB191037,
HM991480,
AF194407,
AK090429,
HM991479,
BC019102,
BC143929,
BC130518
Ensembl:
ENSG00000107099
KO:
hsa:81704
|
| Nucleutide sequences |
EMBL-CDS:
BAB15726.1,
CAC29497.1,
CAI46160.1,
AAG42221.1,
AAH19102.2,
BAC03410.1,
BAE45254.1,
AAI30519.1,
AAI12895.1,
BAB84907.1,
AAI43930.1,
ADK91777.1,
ADK91778.1
Ensembl_TRS:
ENST00000469391,
ENST00000453981,
ENST00000432829
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000419438,
ENSP00000394888,
ENSP00000408464
RefSeq:
XP_011516347.1,
XP_011516350.1,
NP_001177387.1,
XP_016870663.1,
XP_016870662.1,
XP_011516351.1,
XP_011516349.1,
NP_982272.2,
NP_001180465.1,
XP_011516348.1
|
| Others |
UniRef100:
UniRef100_Q8NF50,
UniRef100_E2J6M6
UniRef90:
UniRef90_Q8NF50,
UniRef90_E2J6M6
UniRef50:
UniRef50_Q8VDR9-2,
UniRef50_Q8NF50
UniGene:
Hs.132599
CCDS:
CCDS55284.1,
CCDS55283.1,
CCDS6440.2
|
| {{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