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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 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
  • Eukaryotic Translation Initiation Factor 2 Subunit 3 3
  • EIF2gamma 3
  • MRXSBRK 3
  • EIF-2gA 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
  • 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 Intellectual Disability, Epileptic Seizures, Hypogonadism And Hypogenitalism, Microcephaly, And Obesity. Among its related pathways are Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S and Viral mRNA Translation. 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 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 , fRNAdb sequence ontologies and piRNA Summary for EIF2S3 Gene

Genomics for EIF2S3 Gene

GeneHancer (GH) Regulatory Elements for EIF2S3 Gene

Promoters and enhancers for EIF2S3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XI024053 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 561.6 +0.5 467 3.6 HDGF SMAD1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 IRF4 YY1 EIF2S3 KLHL15 ZFX GC0XP024078
GH0XI023780 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE 9.9 -269.0 -268981 10.4 FEZF1 IRF4 YY1 ZNF213 ZNF143 SP3 NFYC MEF2D SSRP1 ZNF610 SAT1 GC0XP023785 GC0XP023786 RPL9P7 POLA1 ACOT9 EIF2S3 ZFX ENSG00000202272 GC0XP023782
GH0XI025011 Enhancer 1.2 FANTOM5 ENCODE dbSUPER 15 +957.9 957898 2.7 SIN3A GLI4 ZNF2 ZNF335 GLIS2 ZNF366 ZNF202 ZNF263 ZNF680 ELF1 POLA1 ZFX EIF2S3 LOC389842 ARX PCYT1B GC0XP024999
GH0XI023905 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 5 -147.2 -147169 3.3 ARID4B SIN3A ZNF2 YY1 E2F8 ZNF207 ZNF143 SP3 REST ZNF592 APOO CXorf58 KLHL15 ZFX EIF2S3 RPL9P7
GH0XI023896 Enhancer 1.4 FANTOM5 Ensembl ENCODE 4.8 -154.9 -154922 6 PKNOX1 ARID4B TCF12 GLIS2 ARID2 ZNF143 ATF7 FOS RXRA JUNB SAT1 ACOT9 LOC105373148 ENSG00000202272 ZFX APOO EIF2S3 CXorf58 RPL9P7
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around EIF2S3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EIF2S3 gene promoter:

Genomic Locations for EIF2S3 Gene

Genomic Locations for EIF2S3 Gene
chrX:24,054,716-24,078,810
(GRCh38/hg38)
Size:
24,095 bases
Orientation:
Plus strand
chrX:24,072,833-24,096,927
(GRCh37/hg19)

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.

neXtProt entry for EIF2S3 Gene

Post-translational modifications for EIF2S3 Gene

  • Ubiquitination at Lys90, Lys121, posLast=196196, and Lys289

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

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

GENATLAS Biochemistry:
eukaryotic translocation initiation factor 2 gamma,escaping X-inactivation
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).

Phenotypes From GWAS Catalog for EIF2S3 Gene

Gene Ontology (GO) - Molecular Function for EIF2S3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003743 translation initiation factor activity IDA,IEA 10900014
GO:0003924 GTPase activity IEA --
GO:0005515 protein binding IPI 16288713
GO:0005525 GTP binding IEA --
GO:0008135 translation factor activity, RNA binding IDA 10900014
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

Clone Products

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
extracellular 5
cytosol 5
nucleus 2
peroxisome 1

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 12426392
GO:0005829 cytosol TAS --
GO:0005850 eukaryotic translation initiation factor 2 complex IDA 23063529
GO:0070062 extracellular exosome IDA,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

Gene Ontology (GO) - Biological Process for EIF2S3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006412 translation IEA --
GO:0006413 translational initiation TAS --
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

Unigene Clusters for EIF2S3 Gene

Eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

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

No ASD Table

Relevant External Links for EIF2S3 Gene

GeneLoc Exon Structure for
EIF2S3
ECgene alternative splicing isoforms for
EIF2S3

Expression for EIF2S3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for EIF2S3 Gene



Protein tissue co-expression partners for EIF2S3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of EIF2S3 Gene:

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

Primer Products

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 -- 34
  • 100 (a)
OneToMany
EIF2S3 33
  • 93.86 (n)
chimpanzee
(Pan troglodytes)
Mammalia EIF2S3 33
  • 98.52 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 98 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 98 (a)
OneToMany
cow
(Bos Taurus)
Mammalia -- 34
  • 96 (a)
ManyToMany
-- 34
  • 95 (a)
ManyToMany
EIF2S3 33 34
  • 93.29 (n)
rat
(Rattus norvegicus)
Mammalia Eif2s3x 33
  • 91.03 (n)
mouse
(Mus musculus)
Mammalia Eif2s3x 33 16 34
  • 90.89 (n)
chicken
(Gallus gallus)
Aves EIF2S3 33 34
  • 84.25 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 97 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia eif2s3 33
  • 82.27 (n)
Str.7629 33
African clawed frog
(Xenopus laevis)
Amphibia eif2s3-prov 33
zebrafish
(Danio rerio)
Actinopterygii eif2s3 33 34
  • 79.17 (n)
Dr.26653 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8958 33
fruit fly
(Drosophila melanogaster)
Insecta eIF-2gamma 33 34
  • 67.31 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003597 33
  • 66.52 (n)
worm
(Caenorhabditis elegans)
Secernentea Y39G10AR.8 35 34
  • 75 (a)
CELE_Y39G10AR.8 33
  • 65.2 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GCD11 34 36
  • 63 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons EIF2 GAMMA 33
  • 64.9 (n)
soybean
(Glycine max)
eudicotyledons Gma.16061 33
rice
(Oryza sativa)
Liliopsida Os12g0607100 33
  • 66.59 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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)

Paralogs for EIF2S3 Gene

Paralogs for EIF2S3 Gene

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

Pseudogenes.org Pseudogenes for EIF2S3 Gene

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

Variants for EIF2S3 Gene

Sequence variations from dbSNP and Humsavar for EIF2S3 Gene

SNP ID Clin Chr 0X pos Variation AA Info Type
rs1057515578 conflicting-interpretations-of-pathogenicity, MEHMO syndrome 24,057,695(+) T/A coding_sequence_variant, missense_variant
rs886040855 pathogenic, MEHMO syndrome, Mental retardation, X-linked, syndromic, Borck type (MRXSBRK) [MIM:300987] 24,064,228(+) T/C coding_sequence_variant, missense_variant
rs886040856 pathogenic, MEHMO syndrome, Mental retardation, X-linked, syndromic, Borck type (MRXSBRK) [MIM:300987] 24,066,002(+) T/G coding_sequence_variant, missense_variant
rs886040857 pathogenic, likely-pathogenic, MEHMO syndrome, not provided 24,076,757(+) CAATCAA/CAA coding_sequence_variant, frameshift
rs11548543 likely-benign, not specified 24,073,174(+) C/T coding_sequence_variant, synonymous_variant

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: HGMD, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

IF2G_HUMAN
  • Mental retardation, X-linked, syndromic, Borck type (MRXSBRK) [MIM:300987]: A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXSBRK patients manifest global developmental delay, short stature, microcephaly, poor or absent speech, and dysmorphic facial features. Additional features are growth hormone deficiency, hypogonadism, and spasticity resulting in difficulty walking or inability to walk. Thin corpus callosum and reduced white matter volume are observed on brain imaging. Inheritance is X-linked recessive. {ECO:0000269 PubMed:23063529, ECO:0000269 PubMed:27333055}. 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 58
  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 58
  3. EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO. (PMID: 28055140) Skopkova M … Kalscheuer VM (Human mutation 2017) 3 4 58
  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 58
  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 58

Products for EIF2S3 Gene

Sources for EIF2S3 Gene

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