| Type | Description |
|---|---|
| Definition | SZT2 subunit of KICSTOR complex |
| Date | Results | Publications |
|---|---|---|
| 2021-04-17 13:38:00 | Developmental and epileptic encephalopathy due to SZT2 genomic variants: Emerging features of a syndromic condition. | 32402703 |
| 2020-06-20 12:34:00 | results expand the genotype and phenotypes of SZT2-related DEEs, suggesting that SZT2 mutations play a role in developmental delay and epileptic encephalopathy, with high susceptibility to SE and relatively specific MRI findings. | 31397114 |
| 2020-03-07 11:35:00 | The loss-of-function nature of SZT2 mutations in the patients, and consequent hyperactivation of mTORC1 signaling in response to both amino acid starvation and stimulation in their lymphoblastoid cell lines, is reported. | 31430354 |
| 2019-08-03 13:45:00 | in the third case, born to consanguineous parents, had unexpected compound heterozygous missense mutations. She showed microcephaly despite the other case and previous ones presenting with macrocephaly, suggesting that SZT2 mutations might affect head size. | 28556953 |
| 2019-05-25 12:38:00 | SZT2 heterozygote mutation results in early-onset epileptic encephalopathy and leukoencephalopathy. | 29696782 |
| Type | IDs |
|---|---|
| Synonymous | C1orf84, EIEE18, KIAA0467, SZT2A, SZT2B |
| Gene |
UniProtKB-ID:
SZT2_HUMAN
UniprotKB:
Q5T011
UniParc:
UPI0001E24F45,
UPI0000204EA7,
UPI0001E24F46,
UPI00004EC06E
EMBL:
AL583862,
BC151232,
AL139289,
AB007936,
BC052802,
AL117402,
AK131107,
AK027078,
BC082968,
BU101724,
AK126972,
BF926328,
AK091821,
BC017576,
BC041069
Ensembl:
ENSG00000198198
KO:
hsa:23334
|
| Nucleutide sequences |
EMBL-CDS:
BAC03755.1,
AAH52802.1,
BAC85157.1,
BAA32312.2,
AAH82968.1,
AAH41069.1,
BAB15649.1,
CAB55903.1,
AAI51233.1,
BAC86771.1,
AAH17576.1
Ensembl_TRS:
ENST00000372450,
ENST00000634258,
ENST00000562955
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000457168,
ENSP00000489255,
ENSP00000361528
RefSeq:
XP_005270743.1,
XP_016856310.1,
NP_001352928.1,
XP_011539408.1,
XP_016856309.1,
NP_056099.3,
XP_016856308.1,
XP_011539409.1
|
| Others |
UniRef100:
UniRef100_Q5T011
UniRef90:
UniRef90_Q5T011
UniRef50:
UniRef50_Q5T011
UniGene:
Hs.643560
CCDS:
CCDS30694.2
|
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|---|---|---|---|---|---|---|---|---|
| Refseq |
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