Identity
HGNC
LOCATION
Xp22.11
LOCUSID
ALIAS
EIF2,EIF2G,EIF2gamma,MEHMO,MRXSBRK,eIF-2gA
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 1968
MIM: 300161
HGNC: 3267
Ensembl: ENSG00000130741
Variants:
dbSNP: 1968
ClinVar: 1968
TCGA: ENSG00000130741
COSMIC: EIF2S3
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000130741 | ENST00000253039 | P41091 |
| ENSG00000130741 | ENST00000423068 | H7BZU1 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37507029 | 2023 | Binding of human Cdc123 to eIF2γ. | 0 |
| 37507029 | 2023 | Binding of human Cdc123 to eIF2γ. | 0 |
| 34999262 | 2022 | mRNA analysis revealed a novel pathogenic EIF2S3 variant causing MEHMO syndrome. | 0 |
| 34999262 | 2022 | mRNA analysis revealed a novel pathogenic EIF2S3 variant causing MEHMO syndrome. | 0 |
| 34232382 | 2021 | Eukaryotic initiation factor-2, gamma subunit, suppresses proliferation and regulates the cell cycle via the MAPK/ERK signaling pathway in acute myeloid leukemia. | 3 |
| 34232382 | 2021 | Eukaryotic initiation factor-2, gamma subunit, suppresses proliferation and regulates the cell cycle via the MAPK/ERK signaling pathway in acute myeloid leukemia. | 3 |
| 32799315 | 2020 | Novel pathogenic EIF2S3 missense variants causing clinically variable MEHMO syndrome with impaired eIF2γ translational function, and literature review. | 2 |
| 32799315 | 2020 | Novel pathogenic EIF2S3 missense variants causing clinically variable MEHMO syndrome with impaired eIF2γ translational function, and literature review. | 2 |
| 30517694 | 2019 | MEHMO syndrome mutation EIF2S3-I259M impairs initiator Met-tRNAiMet binding to eukaryotic translation initiation factor eIF2. | 14 |
| 30878599 | 2019 | Impaired EIF2S3 function associated with a novel phenotype of X-linked hypopituitarism with glucose dysregulation. | 19 |
| 30517694 | 2019 | MEHMO syndrome mutation EIF2S3-I259M impairs initiator Met-tRNAiMet binding to eukaryotic translation initiation factor eIF2. | 14 |
| 30878599 | 2019 | Impaired EIF2S3 function associated with a novel phenotype of X-linked hypopituitarism with glucose dysregulation. | 19 |
| 29303605 | 2018 | Neonatal hypoglycemia, early-onset diabetes and hypopituitarism due to the mutation in EIF2S3 gene causing MEHMO syndrome. | 12 |
| 29303605 | 2018 | Neonatal hypoglycemia, early-onset diabetes and hypopituitarism due to the mutation in EIF2S3 gene causing MEHMO syndrome. | 12 |
| 28055140 | 2017 | EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO. | 27 |
Citation
Dessen P
EIF2S3 (eukaryotic translation initiation factor 2 subunit gamma)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/62778/case-report-explorer/gene-explorer/
