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] See more...

Aliases for EIF2S3 Gene

Aliases for EIF2S3 Gene

  • Eukaryotic Translation Initiation Factor 2 Subunit Gamma 2 3 5
  • Eukaryotic Translation Initiation Factor 2, Subunit 3 Gamma, 52kDa 2 3
  • Eukaryotic Translation Initiation Factor 2 Subunit Gamma X 3 4
  • Eukaryotic Translation Initiation Factor 2 Subunit 3 3 4
  • Eukaryotic Translation Initiation Factor 2G 2 3
  • EIF-2-Gamma X 3 4
  • EIF-2gX 3 4
  • EIF2G 3 4
  • Eukaryotic Translation Initiation Factor 2, Subunit 3 (Gamma, 52kD) 2
  • EIF2gamma 3
  • MRXSBRK 3
  • EIF-2gA 3
  • MEHMO 3
  • EIF2 3

External Ids for EIF2S3 Gene

Previous HGNC Symbols for EIF2S3 Gene

  • EIF2G

Previous GeneCards Identifiers for EIF2S3 Gene

  • GC0XP022888
  • GC0XP022719
  • GC0XP023275
  • GC0XP023434
  • GC0XP023832
  • GC0XP023982
  • GC0XP024072
  • GC0XP021816

Summaries for EIF2S3 Gene

Entrez Gene Summary for EIF2S3 Gene

  • 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]

GeneCards Summary for EIF2S3 Gene

EIF2S3 (Eukaryotic Translation Initiation Factor 2 Subunit Gamma) is a Protein Coding gene. Diseases associated with EIF2S3 include Mehmo Syndrome and Syndromic Intellectual Disability. Among its related pathways are Translation Factors and Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S. Gene Ontology (GO) annotations related to this gene include GTP binding and translation initiation factor activity. An important paralog of this gene is EIF2S3B.

UniProtKB/Swiss-Prot Summary for EIF2S3 Gene

  • As a subunit of eukaryotic initiation factor 2 (eIF2), involved in the early steps of protein synthesis. In the presence of GTP, eIF2 forms a ternary complex with initiator tRNA Met-tRNAi and then recruits the 40S ribosomal complex, a step that determines the rate of protein translation. This step is followed by mRNA binding to form the 43S pre-initiation complex. Junction of the 60S ribosomal subunit to form the 80S initiation complex is preceded by hydrolysis of the GTP bound to eIF2 and release of an eIF2-GDP binary complex. In order for eIF2 to recycle and catalyze another round of initiation, the GDP bound to eIF2 must exchange with GTP by way of a reaction catalyzed by eIF2B (By similarity). Along with its paralog on chromosome Y, may contribute to spermatogenesis up to the round spermatid stage (By similarity).

Gene Wiki entry for EIF2S3 Gene

Additional gene information for EIF2S3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EIF2S3 Gene

Genomics for EIF2S3 Gene

GeneHancer (GH) Regulatory Elements for EIF2S3 Gene

Promoters and enhancers for EIF2S3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EIF2S3 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EIF2S3

Top Transcription factor binding sites by QIAGEN in the EIF2S3 gene promoter:
  • Cart-1
  • ITF-2
  • Max1
  • POU2F1
  • POU2F1a
  • Sox9
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c
  • Tal-1beta

Genomic Locations for EIF2S3 Gene

Genomic Locations for EIF2S3 Gene
chrX:24,054,946-24,078,810
(GRCh38/hg38)
Size:
23,865 bases
Orientation:
Plus strand
chrX:24,072,833-24,096,927
(GRCh37/hg19)
Size:
24,095 bases
Orientation:
Plus strand

Genomic View for EIF2S3 Gene

Genes around EIF2S3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EIF2S3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EIF2S3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EIF2S3 Gene

Proteins for EIF2S3 Gene

  • Protein details for EIF2S3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P41091-IF2G_HUMAN
    Recommended name:
    Eukaryotic translation initiation factor 2 subunit 3
    Protein Accession:
    P41091
    Secondary Accessions:
    • A0A024RBY4
    • A8K2Y2
    • B2R5N2
    • B5BTZ4
    • Q53HK3

    Protein attributes for EIF2S3 Gene

    Size:
    472 amino acids
    Molecular mass:
    51109 Da
    Quaternary structure:
    • The eukaryotic translation initiation factor 2 complex/eIF2 is a heterotrimer composed of an alpha subunit, also called subunit 1 (encoded by EIF2S1), a beta subunit, also called subunit 2 (encoded by EIF2S2) and a gamma subunit, also called subunit 3 (encoded by EIF2S3).
    Miscellaneous:
    • Encoded by an chromosome X-linked gene which escapes inactivation. Does not have any homolog on chromosome Y.

    Three dimensional structures from OCA and Proteopedia for EIF2S3 Gene

neXtProt entry for EIF2S3 Gene

Post-translational modifications for EIF2S3 Gene

  • Ubiquitination at Lys90, Lys121, Lys196, and Lys289
  • Modification sites at PhosphoSitePlus

Other Protein References for EIF2S3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for EIF2S3 Gene

Domains & Families for EIF2S3 Gene

Gene Families for EIF2S3 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for EIF2S3 Gene

GenScript: Design optimal peptide antigens:
  • Eukaryotic translation initiation factor 2 subunit gamma X (IF2G_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P41091

UniProtKB/Swiss-Prot:

IF2G_HUMAN :
  • Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. EIF2G subfamily.
Family:
  • Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. EIF2G subfamily.
genes like me logo Genes that share domains with EIF2S3: view

Function for EIF2S3 Gene

Molecular function for EIF2S3 Gene

UniProtKB/Swiss-Prot Function:
As a subunit of eukaryotic initiation factor 2 (eIF2), involved in the early steps of protein synthesis. In the presence of GTP, eIF2 forms a ternary complex with initiator tRNA Met-tRNAi and then recruits the 40S ribosomal complex, a step that determines the rate of protein translation. This step is followed by mRNA binding to form the 43S pre-initiation complex. Junction of the 60S ribosomal subunit to form the 80S initiation complex is preceded by hydrolysis of the GTP bound to eIF2 and release of an eIF2-GDP binary complex. In order for eIF2 to recycle and catalyze another round of initiation, the GDP bound to eIF2 must exchange with GTP by way of a reaction catalyzed by eIF2B (By similarity). Along with its paralog on chromosome Y, may contribute to spermatogenesis up to the round spermatid stage (By similarity).
GENATLAS Biochemistry:
eukaryotic translocation initiation factor 2 gamma,escaping X-inactivation

Phenotypes From GWAS Catalog for EIF2S3 Gene

Gene Ontology (GO) - Molecular Function for EIF2S3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000049 contributes_to tRNA binding IBA 21873635
GO:0000166 nucleotide binding IEA --
GO:0003743 translation initiation factor activity IBA,IDA 10900014
GO:0003924 GTPase activity IEA --
GO:0005515 protein binding IPI 16288713
genes like me logo Genes that share ontologies with EIF2S3: view
genes like me logo Genes that share phenotypes with EIF2S3: view

Human Phenotype Ontology for EIF2S3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for EIF2S3 Gene

miRTarBase miRNAs that target EIF2S3

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EIF2S3

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for EIF2S3 Gene

Localization for EIF2S3 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EIF2S3 gene
Compartment Confidence
cytosol 4
nucleus 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
golgi apparatus 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for EIF2S3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 NOT nucleus IDA 12426392
GO:0005737 cytoplasm IDA,IBA 12426392
GO:0005829 cytosol TAS --
GO:0005850 eukaryotic translation initiation factor 2 complex IDA 23063529
GO:0070062 extracellular exosome HDA 20458337
genes like me logo Genes that share ontologies with EIF2S3: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for EIF2S3 Gene

Pathways & Interactions for EIF2S3 Gene

genes like me logo Genes that share pathways with EIF2S3: view

Pathways by source for EIF2S3 Gene

2 GeneGo (Thomson Reuters) pathways for EIF2S3 Gene
  • Translation Regulation of EIF2 activity
  • Translation Insulin regulation of translation
2 Qiagen pathways for EIF2S3 Gene
  • eIF2 Pathway
  • GSK3 Signaling

Gene Ontology (GO) - Biological Process for EIF2S3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001731 formation of translation preinitiation complex IBA 21873635
GO:0006412 translation IEA --
GO:0006413 translational initiation TAS --
GO:0045903 positive regulation of translational fidelity IBA 21873635
GO:0055085 transmembrane transport TAS --
genes like me logo Genes that share ontologies with EIF2S3: view

No data available for SIGNOR curated interactions for EIF2S3 Gene

Drugs & Compounds for EIF2S3 Gene

(3) Drugs for EIF2S3 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma Target 0
Guanosine triphosphate Experimental Pharma 0

(2) Additional Compounds for EIF2S3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with EIF2S3: view

Transcripts for EIF2S3 Gene

mRNA/cDNA for EIF2S3 Gene

1 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EIF2S3

Alternative Splicing Database (ASD) splice patterns (SP) for EIF2S3 Gene

No ASD Table

Relevant External Links for EIF2S3 Gene

GeneLoc Exon Structure for
EIF2S3

Expression for EIF2S3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for EIF2S3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for EIF2S3 Gene

This gene is overexpressed in Bone marrow stromal cell (9.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for EIF2S3 Gene



Protein tissue co-expression partners for EIF2S3 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for EIF2S3

SOURCE GeneReport for Unigene cluster for EIF2S3 Gene:

Hs.539684

mRNA Expression by UniProt/SwissProt for EIF2S3 Gene:

P41091-IF2G_HUMAN
Tissue specificity: Expressed in testis, brain, liver and muscle.

Evidence on tissue expression from TISSUES for EIF2S3 Gene

  • Nervous system(4.9)
  • Heart(4.4)
  • Blood(4.3)
  • Skin(2.4)
  • Spleen(2.1)
  • Kidney(2)
  • Lung(2)
genes like me logo Genes that share expression patterns with EIF2S3: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for EIF2S3 Gene

Orthologs for EIF2S3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for EIF2S3 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia -- 31
  • 100 (a)
OneToMany
EIF2S3 30
  • 93.86 (n)
chimpanzee
(Pan troglodytes)
Mammalia EIF2S3 30
  • 98.52 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 98 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 98 (a)
OneToMany
cow
(Bos Taurus)
Mammalia -- 31
  • 96 (a)
ManyToMany
-- 31
  • 95 (a)
ManyToMany
EIF2S3 31 30
  • 93.29 (n)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Eif2s3x 30
  • 91.03 (n)
mouse
(Mus musculus)
Mammalia Eif2s3x 17 31 30
  • 90.89 (n)
chicken
(Gallus gallus)
Aves EIF2S3 31 30
  • 84.25 (n)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 97 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia eif2s3 30
  • 82.27 (n)
Str.7629 30
African clawed frog
(Xenopus laevis)
Amphibia eif2s3-prov 30
zebrafish
(Danio rerio)
Actinopterygii eif2s3 31 30
  • 79.17 (n)
OneToMany
Dr.26653 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8958 30
fruit fly
(Drosophila melanogaster)
Insecta eIF-2gamma 31 30
  • 67.31 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003597 30
  • 66.52 (n)
worm
(Caenorhabditis elegans)
Secernentea Y39G10AR.8 31 32
  • 73 (a)
OneToMany
CELE_Y39G10AR.8 30
  • 65.2 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GCD11 33 31
  • 63 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons EIF2 GAMMA 30
  • 64.9 (n)
soybean
(Glycine max)
eudicotyledons Gma.16061 30
rice
(Oryza sativa)
Liliopsida Os12g0607100 30
  • 66.59 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 84 (a)
OneToMany
Species where no ortholog for EIF2S3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for EIF2S3 Gene

ENSEMBL:
Gene Tree for EIF2S3 (if available)
TreeFam:
Gene Tree for EIF2S3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for EIF2S3: view image

Paralogs for EIF2S3 Gene

(1) SIMAP similar genes for EIF2S3 Gene using alignment to 2 proteins:

  • IF2G_HUMAN
  • H7BZU1_HUMAN

Pseudogenes.org Pseudogenes for EIF2S3 Gene

genes like me logo Genes that share paralogs with EIF2S3: view

Variants for EIF2S3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EIF2S3 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
rs1057515578 Uncertain Significance: MEHMO syndrome. MEHMO syndrome (MEHMO) [MIM:300148] 24,057,695(+) T/Ap.Ser108Arg MISSENSE_VARIANT
rs11548543 Likely Benign: not specified 24,073,174(+) C/T SYNONYMOUS_VARIANT
rs1402612241 Likely Benign: not specified 24,057,417(+) A/G INTRON_VARIANT
rs1555982746 Uncertain Significance: not provided 24,054,973(+) C/G MISSENSE_VARIANT
rs1569277729 Uncertain Significance: not provided 24,057,660(+) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for EIF2S3 Gene

Structural Variations from Database of Genomic Variants (DGV) for EIF2S3 Gene

Variant ID Type Subtype PubMed ID
esv2740010 CNV deletion 23290073
nsv524256 CNV gain 19592680

Variation tolerance for EIF2S3 Gene

Residual Variation Intolerance Score: 27.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.68; 65.94% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EIF2S3 Gene

Human Gene Mutation Database (HGMD)
EIF2S3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EIF2S3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EIF2S3 Gene

Disorders for EIF2S3 Gene

MalaCards: The human disease database

(4) MalaCards diseases for EIF2S3 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

IF2G_HUMAN
  • MEHMO syndrome (MEHMO) [MIM:300148]: An X-linked recessive mental retardation syndrome characterized by intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity. {ECO:0000269 PubMed:23063529, ECO:0000269 PubMed:27333055, ECO:0000269 PubMed:28055140}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for EIF2S3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with EIF2S3: view

No data available for Genatlas for EIF2S3 Gene

Publications for EIF2S3 Gene

  1. Characterization of genes encoding translation initiation factor eIF-2gamma in mouse and human: sex chromosome localization, escape from X-inactivation and evolution. (PMID: 9736774) Ehrmann IE … Scott DM (Human molecular genetics 1998) 2 3 4 54
  2. Translation initiation factor eIF-2. Cloning and expression of the human cDNA encoding the gamma-subunit. (PMID: 8106381) Gaspar NJ … Merrick WC (The Journal of biological chemistry 1994) 2 3 4 54
  3. EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO. (PMID: 28055140) Skopkova M … Kalscheuer VM (Human mutation 2017) 3 4 54
  4. Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy. (PMID: 27333055) Moortgat S … Maystadt I (American journal of medical genetics. Part A 2016) 3 4 54
  5. eIF2γ mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation. (PMID: 23063529) Borck G … Basel-Vanagaite L (Molecular cell 2012) 3 4 54

Products for EIF2S3 Gene

Sources for EIF2S3 Gene