EEF2 Chromosome 19
Eukaryotic translation elongation factor 2
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What This Gene Does
This gene encodes a member of the GTP-binding translation elongation factor family. This protein is an essential factor for protein synthesis. It promotes the GTP-dependent translocation of the nascent protein chain from the A-site to the P-site of the ribosome. This protein is completely inactivated by EF-2 kinase phosporylation. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Small nucleolar RNA protein coding host genes|Translational GTPases"
Locus Type
gene with protein product
Location
19p13.3
Ensembl
ENSG00000167658
Associated Conditions (2)
Ovarian serous cystadenocarcinoma
Spinocerebellar ataxia type 26
Key Variants
RS200110903
Conflicting classifications of pathogenicity
Health Risk
RS200480185
Conflicting classifications of pathogenicity
Health Risk
RS369925168
Conflicting classifications of pathogenicity
Health Risk
RS371586634
Conflicting classifications of pathogenicity
Health Risk
RS375130935
Conflicting classifications of pathogenicity
Health Risk
RS376174565
Conflicting classifications of pathogenicity
Ovarian serous cystadenocarcinoma, Ovarian serous cystadenocarcinoma
Health Risk
RS562486328
Conflicting classifications of pathogenicity
Health Risk
RS769755490
Conflicting classifications of pathogenicity
Health Risk
RS772173797
Conflicting classifications of pathogenicity
Spinocerebellar ataxia type 26, Spinocerebellar ataxia type 26
Health Risk
RS2145355764
Likely pathogenic
Spinocerebellar ataxia type 26, Spinocerebellar ataxia type 26
Health Risk
RS2145365556
Likely pathogenic
Health Risk
RS587777052
Pathogenic
Spinocerebellar ataxia type 26, Spinocerebellar ataxia type 26
Health Risk
All Variants (12)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS200110903 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200480185 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS369925168 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS371586634 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS375130935 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS376174565 | Health Risk | Conflicting classifications of pathogenicity | Ovarian serous cystadenocarcinoma, Ovarian serous cystadenocarcinoma |
| RS562486328 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS769755490 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS772173797 | Health Risk | Conflicting classifications of pathogenicity | Spinocerebellar ataxia type 26, Spinocerebellar ataxia type 26 |
| RS2145355764 | Health Risk | Likely pathogenic | Spinocerebellar ataxia type 26, Spinocerebellar ataxia type 26 |
| RS2145365556 | Health Risk | Likely pathogenic | — |
| RS587777052 | Health Risk | Pathogenic | Spinocerebellar ataxia type 26, Spinocerebellar ataxia type 26 |