| Type | Description |
|---|---|
| Definition | tetratricopeptide repeat domain 21B |
| Date | Results | Publications |
|---|---|---|
| 2018-09-08 10:39:00 | Case Reports: 3 novel TTC21B mutations in two Chinese pediatric nephronophthisis-related ciliopathies cases that both presented with end-stage renal disease. | 28124483 |
| 2017-09-30 13:56:00 | TTC21B mutation is associated with glomerular and cystic kidney diseases. | 26940125 |
| 2017-07-08 11:49:00 | Exome sequencing and further CRB2 analysis revealed that both siblings are compound heterozygotes for CRB2 mutations p.N800K and p.Gly1036Alafs*43, and heterozygous for a deleterious splice variant in the ciliopathy gene TTCB21 | 26925547 |
| 2015-01-10 11:06:00 | We demonstrated that the TTC21B gene product IFT139, an intraflagellar transport-A component, mainly localizes at the base of the primary cilium in developing podocytes from human fetal tissue and in undifferentiated cultured podocytes. | 24876116 |
| 2011-04-23 11:15:00 | TTC21B contributes pathogenic alleles to approximately 5% of ciliopathy cases. Our data illustrate how genetic lesions can be both causally associated with diverse ciliopathies and interact in trans with other disease-causing genes | 21258341 |
| Type | IDs |
|---|---|
| Synonymous | ATD4, IFT139, IFT139B, JBTS11, NPHP12, Nbla10696, SRTD4, THM1 |
| Gene |
UniProtKB-ID:
TT21B_HUMAN,
A8KA77_HUMAN
UniprotKB:
Q7Z4L5,
A8KA77
UniParc:
UPI0000E07B46,
UPI00015DAA78,
UPI000020900A
EMBL:
BC035767,
AK021519,
AC011241,
AK292942,
BC055424,
AC010127,
AB082523,
BC063579,
AB073395,
AK057268
Ensembl:
ENSG00000123607
KO:
hsa:79809
|
| Nucleutide sequences |
EMBL-CDS:
AAH35767.1,
BAB71404.1,
AAY14750.1,
AAH55424.1,
BAC02701.1,
BAB13836.1,
BAE45724.1,
AAH63579.1,
BAF85631.1
Gene_ORFName:
Nbla10696
Ensembl_TRS:
ENST00000243344
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000243344
RefSeq:
XP_016860458.1,
XP_006712824.1,
NP_079029.3,
XP_011510174.1,
XP_011510173.1,
XP_016860456.1,
XP_016860457.1
|
| Others |
UniRef100:
UniRef100_Q7Z4L5,
UniRef100_A8KA77
UniRef90:
UniRef90_Q7Z4L5
UniRef50:
UniRef50_Q7Z4L5
UniGene:
Hs.310672
CCDS:
CCDS33315.1
|
| {{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