Gene Gene information from NCBI Gene database.
Entrez ID 1968
Gene name Eukaryotic translation initiation factor 2 subunit gamma
Gene symbol EIF2S3
Synonyms (NCBI Gene)
EIF2EIF2GEIF2gammaMEHMOMRXSBRKeIF-2gAeIF2gX
Chromosome X
Chromosome location Xp22.11
Summary The protein encoded by this gene is the largest subunit of a heterotrimeric GTP-binding protein involved in the recruitment of methionyl-tRNA(i) to the 40 S ribosomal subunit. [provided by RefSeq, Jan 2010]
SNPs SNP information provided by dbSNP.
5
SNP ID Visualize variation Clinical significance Consequence
rs751468976 C>A,T Likely-pathogenic Missense variant, coding sequence variant
rs886040855 T>C Pathogenic Missense variant, coding sequence variant
rs886040856 T>G Pathogenic Missense variant, coding sequence variant
rs886040857 TCAA>- Likely-pathogenic, pathogenic Frameshift variant, coding sequence variant
rs1602041478 A>G Likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
876
miRTarBase ID miRNA Experiments Reference
MIRT025848 hsa-miR-7-5p Microarray 19073608
MIRT027622 hsa-miR-98-5p Microarray 19088304
MIRT030483 hsa-miR-24-3p Microarray 19748357
MIRT049409 hsa-miR-92a-3p CLASH 23622248
MIRT048212 hsa-miR-196a-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
29
GO ID Ontology Definition Evidence Reference
GO:0000049 Function TRNA binding IBA
GO:0000049 Function TRNA binding IEA
GO:0000166 Function Nucleotide binding IEA
GO:0001731 Process Formation of translation preinitiation complex IBA
GO:0002183 Process Cytoplasmic translational initiation IMP 31836389
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300161 3267 ENSG00000130741
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P41091
Protein name Eukaryotic translation initiation factor 2 subunit 3 (EC 3.6.5.3) (Eukaryotic translation initiation factor 2 subunit gamma X) (eIF2-gamma X) (eIF2gX)
Protein function Member of the eIF2 complex that functions in the early steps of protein synthesis by forming a ternary complex with GTP and initiator tRNA (PubMed:31836389). This complex binds to a 40S ribosomal subunit, followed by mRNA binding to form the 43S
PDB 6FEC , 6K71 , 6K72 , 6O81 , 6O85 , 6YBV , 6ZMW , 6ZP4 , 7A09 , 7D43 , 7F66 , 7F67 , 7QP6 , 7QP7 , 8OZ0 , 8PHD , 8PHV , 8PJ1 , 8PJ2 , 8PJ3 , 8PJ4 , 8PPL , 8QZZ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00009 GTP_EFTU 39 245 Elongation factor Tu GTP binding domain Domain
PF03144 GTP_EFTU_D2 276 359 Elongation factor Tu domain 2 Domain
PF09173 eIF2_C 369 459 Initiation factor eIF2 gamma, C terminal Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in testis, brain, liver and muscle. {ECO:0000269|PubMed:9736774}.
Sequence
Sequence length 472
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    L13a-mediated translational silencing of Ceruloplasmin expression
PERK regulates gene expression
ABC-family proteins mediated transport
Translation initiation complex formation
Formation of the ternary complex, and subsequently, the 43S complex
Ribosomal scanning and start codon recognition
GTP hydrolysis and joining of the 60S ribosomal subunit
Recycling of eIF2:GDP
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
22
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
MEHMO syndrome Likely pathogenic; Pathogenic rs2147128410, rs2147131515, rs886040857, rs886040855, rs886040856, rs2518575520, rs751468976, rs1602041478 RCV001391224
RCV002248341
RCV000408900
RCV000257965
RCV000257991
RCV003883274
RCV000578308
RCV000991276
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
EIF2S3-related disorder Likely benign; Benign; Uncertain significance rs778615116, rs377239918, rs763418298 RCV004757402
RCV003895246
RCV003971417
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
ATR X syndrome Associate 28055140
Breast Neoplasms Associate 28459209
Carcinoma Non Small Cell Lung Associate 27418131
Carcinoma Ovarian Epithelial Associate 35718769
Chromosome Disorders Associate 23063529
Coloboma Obesity Hypogenitalism Mental Retardation Syndrome Associate 32901502
Colorectal Neoplasms Associate 25339833, 25516661, 33237662
Cystic Fibrosis Associate 31474496
Cystitis Interstitial Associate 34876093
Diabetes Mellitus Associate 29303605, 32799315