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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
MEHMO syndrome Likely pathogenic; Pathogenic rs2147128410, rs2147131515, rs886040857, rs886040855, rs886040856, rs2518575520, rs751468976, rs1602041478 RCV001391224
RCV002248341
RCV000408900
RCV000257965
RCV000257991
View all (3 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
DIABETES MELLITUS Disgenet, GenCC
Disgenet, GenCC
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EIF2S3-related disorder Likely benign; Benign; Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 27570551
★☆☆☆☆
Found in Text Mining only
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED Amyloidosis BEFREE 27570551
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 18559534
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 28459209 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Ovarian Epithelial Epithelial ovarian carcinoma Pubtator 35718769 Associate
★☆☆☆☆
Found in Text Mining only
Childhood Ataxia with Central Nervous System Hypomyelinization Leukoencephalopathy with vanishing white matter BEFREE 14993275, 23335982, 28953319
★☆☆☆☆
Found in Text Mining only
Cirrhosis Cirrhosis BEFREE 23894275
★☆☆☆☆
Found in Text Mining only
Cognition Disorders Cognitive disorder BEFREE 29599213
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 29505855
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 25339833, 25516661, 33237662 Associate
★☆☆☆☆
Found in Text Mining only