| Type | Description |
|---|---|
| Definition | potassium channel tetramerization domain containing 3 |
| Date | Results | Publications |
|---|---|---|
| 2019-09-28 11:34:00 | this largest series to date on KCTD3-mutated patients, we show that biallelic loss of function mutations in KCTD3 lead to a consistent phenotype of developmental epileptic encephalopathy and abnormal cerebellum on brain imaging. | 29406573 |
| 2013-05-18 11:37:00 | KCTD3 is an accessory subunit of native HCN3 complexes | 23382386 |
| Type | IDs |
|---|---|
| Synonymous | NY-REN-45 |
| Gene |
UniProtKB-ID:
KCTD3_HUMAN
UniprotKB:
Q9Y597
UniParc:
UPI0000071A2E,
UPI000050D042,
UPI000056F18D
EMBL:
CH471100,
AL365315,
BC117188,
BC094879,
AL834389,
BC126173,
AF155110,
AC092799,
AL833887,
BC013868,
BC037896
Ensembl:
ENSG00000136636
KO:
hsa:51133
|
| Nucleutide sequences |
EMBL-CDS:
AAH37896.1,
AAD42876.1,
AAI17189.1,
EAW93345.1,
CAD38743.2,
CAD39051.1,
AAH94879.1,
AAI26174.1,
AAH13868.1
Ensembl_TRS:
ENST00000259154
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000259154
RefSeq:
NP_057205.2,
NP_001306223.1,
XP_005273215.1,
NP_001306224.1
|
| Others |
UniRef100:
UniRef100_Q9Y597
UniRef90:
UniRef90_Q9Y597
UniRef50:
UniRef50_Q9Y597
UniGene:
Hs.335139
CCDS:
CCDS1515.1
|
| {{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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