| Type | Description |
|---|---|
| Definition | coenzyme Q8B |
| Date | Results | Publications |
|---|---|---|
| 2021-02-06 13:54:00 | Absence of Long H19 Promotes Childhood Nephrotic Syndrome through Inhibiting ADCK4 Signal. | 32489187 |
| 2019-05-25 12:04:00 | a novel ABC1 domain-localized pathogenic mutation responsible for ADCK4-glomerulopathy was identified, further supporting the importance of the C-terminal portion of ADCK4. | 30352687 |
| 2019-03-30 11:08:00 | a COQ8B polymorphism, present in 50% of the European population (NM_024876.3:c.521A > G, p.His174Arg), affects stability of the protein and could represent a risk factor for secondary Coenzyme Q deficiencies or for other complex traits. | 29194833 |
| 2019-03-09 11:30:00 | Study in Korean cohort revealed that ADCK4 mutations should be considered in older children presenting with steroid resistant focal segmental glomerulosclerosis. The association with medullary nephrocalcinosis may be an additional diagnostic indicator. | 28405841 |
| 2014-02-08 11:53:00 | Mutations in ADCK4 resulted in reduced CoQ10 levels and reduced mitochondrial respiratory enzyme activity in cells isolated from individuals with steroid-resistant nephrotic syndrome & transformed lymphoblasts. | 24270420 |
| Type | IDs |
|---|---|
| Synonymous | ADCK4, NPHS9 |
| Gene |
UniProtKB-ID:
COQ8B_HUMAN,
A0A024R0Q9_HUMAN
UniprotKB:
Q96D53,
A0A024R0Q9
UniParc:
UPI0000071B0F,
UPI000007089F
EMBL:
BC027473,
BC013114,
CH471126,
AK022291
Ensembl:
ENSG00000123815
KO:
hsa:79934
|
| Nucleutide sequences |
EMBL-CDS:
AAH27473.1,
AAH13114.2,
BAB14004.1,
EAW56988.1,
EAW56989.1
Gene_ORFName:
hCG_1995823
Ensembl_TRS:
ENST00000243583,
ENST00000324464
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000243583,
ENSP00000315118
RefSeq:
NP_079152.3,
NP_001136027.1
|
| Others |
UniRef100:
UniRef100_Q96D53,
UniRef100_A0A024R0Q9
UniRef90:
UniRef90_Q96D53,
UniRef90_A0A2R9AN10
UniRef50:
UniRef50_Q96D53
UniGene:
Hs.130712
CCDS:
CCDS12562.1,
CCDS46081.1
|
| {{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