Gene table of EEF1A2 : eukaryotic translation elongation factor 1 alpha 2

Gene-disease associations table

Disease IDDisease nameSource of annotation with EEF1A2OMIM linkNumber of associated genesgenes
PS156200MENTAL RETARDATION, AUTOSOMAL DOMINANTClinVar, OMIM, HUMSAVAR link to OMIM 44EHMT1, MEF2C, AHDC1, SOX11, CDH15, KIRREL3, EEF1A2, KAT6A, ZMYND11, ARID1A, KMT2C, PPP2R5D, DYNC1H1, GRIN1, CTCF, SETD5, NR1I3, PACS1, DPP6, DEAF1, KIF1A, SYNGAP1, PURA, POGZ, EPB41L1, PPP2R1A, AUTS2, CTNNB1, ARID1B, ZBTB18, CACNG2, MBD5, SMARCB1, KANSL1, SMARCE1, COL4A3BP, MYT1L, ADNP, SMARCA4, GATAD2B, SETBP1, GRIN2B, CHAMP1, DYRK1A
PS308350EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILEClinVar, OMIM, HUMSAVAR link to OMIM 37SZT2, EEF1A2, KCNT1, ALG13, ST3GAL3, WWOX, ITPA, SIK1, SCN1A, ARHGEF9, GNAO1, TBC1D24, DNM1, SLC35A2, SCN8A, SLC13A5, SLC25A22, HCN1, KCNB1, STXBP1, SCN9A, CDKL5, KCNQ2, SPTAN1, KCNA2, SCN2A, PLCB1, AARS, PCDH19, PNKP, SLC12A5, GABRA1, DOCK7, ARX, GRIN2B, NECAP1, PIGA

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Annotation of the gene EEF1A2

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST
Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
RNA transporthsa030135.37
Legionellosishsa051346.88
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Gene ExpressionR-HSA-741602.72
Eukaryotic Translation ElongationR-HSA-1568426.52
Metabolism of proteinsR-HSA-3924993.41
TranslationR-HSA-727665.8
Associated GO terms for Molecular function
GO termGO IDGO IC
purine ribonucleoside triphosphate bindingGO:00356392.22
enzyme bindingGO:00198992.27
bindingGO:00054880.18
nucleic acid bindingGO:00036761.44
heterocyclic compound bindingGO:19013631.06
purine nucleoside bindingGO:00018832.22
nucleoside bindingGO:00018822.21
guanyl nucleotide bindingGO:00190013.73
nucleotide bindingGO:00001661.96
guanyl ribonucleotide bindingGO:00325613.73
nucleoside phosphate bindingGO:19012651.96
ribonucleoside bindingGO:00325492.22
purine nucleotide bindingGO:00170762.19
GTP bindingGO:00055253.78
hydrolase activityGO:00167871.9
translation factor activity, RNA bindingGO:00081355.07
GTPase activityGO:00039244.31
nucleoside-triphosphatase activityGO:00171113.09
protein kinase bindingGO:00199013.44
kinase bindingGO:00199003.32
small molecule bindingGO:00360941.89
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydridesGO:00168183.03
catalytic activityGO:00038241.05
carbohydrate derivative bindingGO:00973672.03
organic cyclic compound bindingGO:00971591.05
hydrolase activity, acting on acid anhydridesGO:00168173.03
pyrophosphatase activityGO:00164623.04
RNA bindingGO:00037232.36
protein bindingGO:00055150.46
purine ribonucleotide bindingGO:00325552.2
translation elongation factor activityGO:00037466.27
purine ribonucleoside bindingGO:00325502.22
ribonucleotide bindingGO:00325532.19