| Type | Description |
|---|---|
| Definition | eukaryotic translation initiation factor 2B subunit gamma |
| Date | Results | Publications |
|---|---|---|
| 2017-02-04 11:07:00 | To determine the tolerance differences to ERS, cell viability and apoptosis rates were detected in oligodendrocyte cell lines transfected with EIF2B3-c.1037T>C or the wild type. We confirmed that oligodendrocytes with mutant EIF2B3 was less tolerant to ERS than the wild type, with decreased cell viability and increased apoptosis rates. | 26625702 |
| 2015-12-05 11:10:00 | Results show significant higher incidence of Chinese patients with EIF2B3 mutations compared with Caucasian patients. The c.1037T>C in EIF2B3 was confirmed to be a founder mutation in Chinese explaining the genotypic differences between ethnicities. | 25761052 |
| 2010-06-30 22:06:00 | Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | 20379614 |
| 2010-01-21 00:00:00 | Study reports 9 novel mutations in EIF2B genes in 8 patients, increasing number of known mutations to more than 120. Using homology modeling, analyzed the impact of novel mutations on the 5 subunits of eIF2B protein (alpha, beta, gamma, delta, epsilon) | 18263758 |
| 2008-07-30 21:30:00 | Observational study of gene-disease association. (HuGE Navigator) | 18632786 |
| Type | IDs |
|---|---|
| Synonymous | EIF-2B, EIF2Bgamma |
| Gene |
UniProtKB-ID:
EI2BG_HUMAN,
Q9HA31_HUMAN
UniprotKB:
Q9NR50,
Q9HA31
UniParc:
UPI0000046983,
UPI000006DC93,
UPI000002A88C,
UPI000002A88D
EMBL:
AF257077,
AK024006,
AK314668,
BC018728,
CH471059,
AL834288,
AK022399,
CR457285,
AL136380
Ensembl:
ENSG00000070785
KO:
hsa:8891
|
| Nucleutide sequences |
EMBL-CDS:
AAF91351.1,
EAX07013.1,
EAX07015.1,
CAD38962.1,
AAH18728.1,
BAG37225.1,
BAB14770.1,
EAX07016.1,
CAG33566.1,
BAB14027.1
Gene_ORFName:
hCG_18606
Ensembl_TRS:
ENST00000372183,
ENST00000620860,
ENST00000360403
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000483996,
ENSP00000353575,
ENSP00000361257
RefSeq:
XP_016858236.1,
NP_001160060.1,
XP_016858235.1,
NP_001248347.1,
NP_065098.1,
XP_016858234.1
|
| Others |
UniRef100:
UniRef100_Q9NR50
UniRef90:
UniRef90_Q9NR50
UniRef50:
UniRef50_Q9NR50
UniGene:
Hs.533549
CCDS:
CCDS72775.1,
CCDS53313.1,
CCDS517.1
|
| {{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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