| Type | Description |
|---|---|
| Definition | centrosomal protein 290 |
| Date | Results | Publications |
|---|---|---|
| 2019-12-14 11:34:00 | Cep290 deficiency is associated with Retinal Degeneration. | 30332642 |
| 2019-02-09 10:30:00 | These findings indicate that antisense oligonucleotide treatment may represent a promising therapeutic approach for kidney disease in CEP290-associated ciliopathy syndromes. | 30446612 |
| 2017-12-23 11:07:00 | Study describes a mouse model of Leber's Congenital Amaurosis type 10 with in-frame mutation in Cep290 gene. The mutants show a rapid retinal degeneration in the rod-rich mouse retina . | 27150101 |
| 2017-07-29 11:36:00 | Together with a physical interaction between RPGR and the C-terminal domain of CEP290, our data suggest that RPGR and CEP290 genetically interact and highlight the involvement of hypomorphic alleles of genes as potential modifiers of heterogeneous retinal ciliopathies. | 26936822 |
| 2016-04-30 12:12:00 | Cep290(ko/ko) mice exhibit early vision loss and die from hydrocephalus. | 25859007 |
| Type | IDs |
|---|---|
| Synonymous | BC004690, Nphp6, b2b1454Clo, b2b1752Clo |
| Gene |
UniProtKB-ID:
CE290_MOUSE,
E9Q9M0_MOUSE
UniprotKB:
Q6A078,
E9Q9M0
UniParc:
UPI0000E56EE1,
UPI000162C861,
UPI0000511BBD
EMBL:
AK172940,
AK029960,
AC153501
Ensembl:
ENSMUSG00000019971
KO:
mmu:216274
|
| Nucleutide sequences |
EMBL-CDS:
BAC26700.1,
BAD32218.1
Ensembl_TRS:
ENSMUST00000219765,
ENSMUST00000164751,
ENSMUST00000220346
|
| Protein sequencees |
Ensembl_PRO:
ENSMUSP00000151712,
ENSMUSP00000151388,
ENSMUSP00000130899
RefSeq:
XP_006513590.1,
XP_006513591.1,
XP_006513589.1,
NP_666121.2
|
| Others |
UniRef100:
UniRef100_Q6A078,
UniRef100_E9Q9M0
UniRef90:
UniRef90_Q6A078
UniRef50:
UniRef50_O15078
UniGene:
Mm.229114
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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