| Type | Description |
|---|---|
| Definition | zinc finger protein 408 |
| Date | Results | Publications |
|---|---|---|
| 2019-05-25 10:59:00 | p.H455Y ZNF408 has reduced DNA-binding ability, as compared to the wild-type protein. The fact that the p.H455Y mutation disrupts the expression of genes important for the development of vasculature sheds further light on the molecular mechanisms underlying ZNF408-associated familial exudative vitreoretinopathy. | 29982478 |
| 2019-05-11 13:19:00 | In a Pakistani family with retinal degeneration, whole-exome sequencing identified 2 homozygous missense variants: c.1304G>A; p.Arg435Gln in ZNF408 (NM_024741) and c.902G>A; p.Gly301Asp in C1QTNF4 (NM_031909). Both segregated with the retinal phenotype in this family and were absent in ethnically matched control chromosomes. | 29721947 |
| 2018-11-03 12:02:00 | This is the first study to report a group of patients with digenic familial exudative vitreoretinopathy (FEVR). In most affected eyes, the stage was more severe than stage 3. We speculate that the phenotype of FEVR is more severe in patients with digenic rather than monogenic variants of FEVR-related genes. | 30097784 |
| 2018-03-31 10:39:00 | In conclusion, we report a novel mutation in ZNF408 causing autosomal recessive retinitis pigmentosa with vitreal alterations in three members of a Tunisian family, which further accentuates the role of this new gene in the susceptibility to retinitis pigmentosa. | 28095122 |
| 2017-02-04 11:51:00 | Several novel mutations (missense, non-stop and insertion) were detected in the coding regions of FZD4, and ZNF408 genes among the unrelated vitreoretinopathy probands. | 27316669 |
| Type | IDs |
|---|---|
| Synonymous | EVR6, RP72 |
| Gene |
UniProtKB-ID:
ZN408_HUMAN,
B4DXY4_HUMAN
UniprotKB:
Q9H9D4,
B4DXY4
UniParc:
UPI00017A8045,
UPI0000132189
EMBL:
AK022889,
AK302180,
BC013355,
AF346626,
BC015708
Ensembl:
ENSG00000175213
KO:
hsa:79797
|
| Nucleutide sequences |
EMBL-CDS:
AAH15708.1,
BAB14295.1,
AAH13355.1,
AAK29075.1,
BAG63546.1
Ensembl_TRS:
ENST00000311764
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000309606
RefSeq:
NP_079017.1,
NP_001171680.1
|
| Others |
UniRef100:
UniRef100_Q9H9D4,
UniRef100_B4DXY4
UniRef90:
UniRef90_Q9H9D4
UniRef50:
UniRef50_Q9H9D4
UniGene:
Hs.656931
CCDS:
CCDS7923.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| 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}} - |
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