EEF1A2 Chromosome 20
Eukaryotic translation elongation factor 1 alpha 2
Upload your DNA to see your personal genotypes for variants in EEF1A2.
What This Gene Does
This gene encodes an isoform of the alpha subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome. This isoform (alpha 2) is expressed in brain, heart and skeletal muscle, and the other isoform (alpha 1) is expressed in brain, placenta, lung, liver, kidney, and pancreas. This gene may be critical in the development of ovarian cancer. [provided by RefSeq, Mar 2014]
Gene Info
Gene Group
Translational GTPases
Locus Type
gene with protein product
Location
20q13.33
Ensembl
ENSG00000101210
Associated Conditions (9)
EEF1A2-related developmental and degenerative epileptic-dyskinetic encephalopathy
Intellectual disability
autosomal dominant 38
Developmental and epileptic encephalopathy
33
Inborn genetic diseases
EEF1A2-related disorder
Hereditary spastic paraplegia 46
Complex neurodevelopmental disorder
Key Variants
RS1057518587
Conflicting classifications of pathogenicity
EEF1A2-related developmental and degenerative epileptic-dyskinetic encephalopathy, EEF1A2-related developmental and degenerative epileptic-dyskinetic encephalopathy
Health Risk
RS1064795618
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 38, Developmental and epileptic encephalopathy
Health Risk
RS111392970
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 33, Inborn genetic diseases
Health Risk
RS1166766963
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 33, Developmental and epileptic encephalopathy
Health Risk
RS146728528
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 33, Inborn genetic diseases
Health Risk
RS1490454929
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 33, Intellectual disability
Health Risk
RS1555883816
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 33, Inborn genetic diseases
Health Risk
RS1555883860
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 33, Developmental and epileptic encephalopathy
Health Risk
RS1555883975
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1568994522
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 33, Intellectual disability
Health Risk
RS2082409766
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 33, Developmental and epileptic encephalopathy
Health Risk
RS2082414008
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 33, Hereditary spastic paraplegia 46
Health Risk
All Variants (59)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS886041197 | Health Risk | Pathogenic | EEF1A2-related developmental and degenerative epileptic-dyskinetic encephalopathy, Intellectual disability, autosomal dominant 38 |
| RS1555883384 | Health Risk | Pathogenic/Likely pathogenic | EEF1A2-related developmental and degenerative epileptic-dyskinetic encephalopathy, Developmental and epileptic encephalopathy, 33 |
| RS1555883505 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Developmental and epileptic encephalopathy, 33 |
| RS2082362479 | Health Risk | Pathogenic/Likely pathogenic | EEF1A2-related developmental and degenerative epileptic-dyskinetic encephalopathy, Intellectual disability, autosomal dominant 38 |
| RS2145945425 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 33, Inborn genetic diseases |
| RS786205865 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 38, Developmental and epileptic encephalopathy |
| RS786205866 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 38, Developmental and epileptic encephalopathy |
| RS886039346 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 33, Inborn genetic diseases |
| RS886042041 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 33, Intellectual disability |