| Type | Description |
|---|---|
| Definition | sarcoglycan epsilon |
| Date | Results | Publications |
|---|---|---|
| 2020-03-21 11:25:00 | SGCE gene variants can cause myoclonus dystonia syndrome. The onset of the disease may occur at infancy or preschool age, with either myoclonic jerks or dystonia as the initial symptom.--- SGCE gene is imprinted maternally, and the inherited variants of SGCE are paternal in origin. | 32102149 |
| 2019-06-29 12:15:00 | SGCE mutations can occur in sporadic patients when the phenotype is consistent with Myoclonus-Dystonia syndrome. | 30849405 |
| 2018-10-27 10:39:00 | The characterization of iPSC-derived cortical neurons with mutations in SGCE revealed that these cells are a suitable model mirroring the endogenous environment in the myoclonus-dystonia patient brain, especially, when focusing on concrete molecular aspects of the disease mechanism. | 28155872 |
| 2018-07-21 10:53:00 | A novel nonsense SGCE mutation was found in a Japanese family with myoclonus-dystonia. | 28707723 |
| 2018-06-09 10:42:00 | This study demonstrated that Psychiatric features are not likely to be related with the SGCE mutation itself but just bespeak disability in clinical MD syndrome regardless of the SGCE mutation. | 28690014 |
| Type | IDs |
|---|---|
| Synonymous | DYT11, ESG, epsilon-SG |
| Gene |
UniProtKB-ID:
SGCE_HUMAN,
E9PEH6_HUMAN,
B4DP78_HUMAN,
C9JR67_HUMAN,
A0A2R8YH84_HUMAN,
A0A0S2Z4P5_HUMAN,
A0A2R8Y5J3_HUMAN,
A0A2R8YGQ3_HUMAN
UniprotKB:
O43556,
E9PEH6,
B4DP78,
C9JR67,
A0A2R8YH84,
A0A0S2Z4P5,
A0A2R8Y5J3,
A0A2R8YGQ3
UniParc:
UPI000387D983,
UPI00017A77EB,
UPI000387C99D,
UPI0000E215DE,
UPI0005D032F7,
UPI000003751D,
UPI0000E215E1,
UPI0000D4E987,
UPI000198CF1B
EMBL:
AF036364,
AJ000534,
AK313438,
AC002528,
AF516515,
AY359042,
KF458520,
KU178449,
CH471091,
AC096662,
AC069292,
AF031920,
AB117974,
BC021709,
KU178450,
AK298220
Ensembl:
ENSG00000127990
KO:
hsa:8910
|
| Nucleutide sequences |
EMBL-CDS:
AAH21709.1,
AAS07485.1,
AAC04368.1,
AAQ89401.1,
EAW76788.1,
EAW76784.1,
CAA04167.1,
BAD21206.1,
EAW76786.1,
BAG36229.1,
EAW76785.1,
AAM64204.1,
AAC14021.1,
BAG60490.1,
ALQ33908.1,
ALQ33907.1
Gene_ORFName:
UNQ433/PRO840
Ensembl_TRS:
ENST00000445866,
ENST00000642933,
ENST00000648936,
ENST00000437425,
ENST00000447873,
ENST00000643193,
ENST00000643272,
ENST00000646489
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000497130,
ENSP00000496237,
ENSP00000398930,
ENSP00000394061,
ENSP00000388734,
ENSP00000496559,
ENSP00000494488,
ENSP00000496268
RefSeq:
XP_011514967.1,
NP_001333646.1,
NP_001349738.1,
NP_001333648.1,
XP_011514971.1,
XP_016868256.1,
NP_001333649.1,
NP_001288068.1,
XP_011514965.1,
NP_001349736.1,
NP_003910.1,
XP_024302754.1,
XP_011514968.1,
XP_011514966.1,
XP_016868252.1,
NP_001092870.1,
XP_024302753.1,
XP_011514969.1,
NP_001333642.1,
NP_001333644.1,
NP_001092871.1,
NP_001349737.1
|
| Others |
UniRef100:
UniRef100_B4DP78,
UniRef100_A0A2R8YGQ3,
UniRef100_O43556,
UniRef100_A0A2R8YH84,
UniRef100_C9JR67,
UniRef100_A0A2R8Y5J3,
UniRef100_E9PEH6
UniRef90:
UniRef90_O43556,
UniRef90_E9PEH6,
UniRef90_A0A2R8Y5R7,
UniRef90_A0A2R8YE48
UniRef50:
UniRef50_O43556
UniGene:
Hs.371199
CCDS:
CCDS47642.1,
CCDS47643.1,
CCDS5637.1
|
| {{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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