| Type | Description |
|---|---|
| Definition | potassium voltage-gated channel modifier subfamily V member 2 |
| Date | Results | Publications |
|---|---|---|
| 2021-04-13 10:12:00 | KCNV2 retinopathy: clinical features, molecular genetics and directions for future therapy. | 32441199 |
| 2019-07-27 11:25:00 | Biallelic loss-of-function KCNV2 variants (p.W67X and p.D174GfsX198) were identified as the cause of cone dystrophy with supernormal rod responses (CDSRR). Long-term FF-ERG findings demonstrated there were no ERG changes during 15 years of observation, indicating that there was no evidence of progressive peripheral retinal dysfunction, in spite of worsening macular atrophy. | 30877594 |
| 2017-07-22 10:31:00 | Pharmacogenetic and case-control study evaluated the role of the variants of KCNA1, KCNA2, and KCNV2 in the susceptibility and drug resistance of genetic generalized epilepsies and revealed no significant association between 8 variants of KCNA1, KCNA2, and KCNV2 genes and risk or drug resistance of genetic generalized epilepsies after a Bonferroni correction for multiple comparisons. | 28658141 |
| 2014-01-18 11:56:00 | The 2 mutations identified are novel and thus expand the current knowledge of Retinal Cone Dystrophy 3B genotype-phenotype descriptions in the literature. | 24029832 |
| 2014-01-11 10:37:00 | This is the first report of genetic and clinical analysis of cone dystrophy with supernormal rod response in the Israeli population leading to the identification of 4 novel KCNV2 mutations. | 23725738 |
| Type | IDs |
|---|---|
| Synonymous | KV11.1, Kv8.2, RCD3B |
| Gene |
UniProtKB-ID:
KCNV2_HUMAN
UniprotKB:
Q8TDN2
UniParc:
UPI0000048D8E
EMBL:
BC101353,
BC101352,
AF348983,
AL354723
Ensembl:
ENSG00000168263
KO:
hsa:169522
|
| Nucleutide sequences |
EMBL-CDS:
AAI01353.1,
AAL83910.1,
AAI01354.1
Ensembl_TRS:
ENST00000382082
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000371514
RefSeq:
NP_598004.1
|
| Others |
UniRef100:
UniRef100_Q8TDN2
UniRef90:
UniRef90_Q8TDN2
UniRef50:
UniRef50_Q8TDN2
UniGene:
Hs.622675,
Hs.624689,
Hs.740173
CCDS:
CCDS6447.1
|
| {{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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