Details for: EIF2S3

Gene ID: 1968

Symbol: EIF2S3

Ensembl ID: ENSG00000130741

Description: eukaryotic translation initiation factor 2 subunit gamma

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: small pre-B-II cell (CL0000954)
    Fold Change: 2.97
    Marker Score: 3573.5
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 2.76
    Marker Score: 2949
  • Cell Name: mature alpha-beta T cell (CL0000791)
    Fold Change: 2.71
    Marker Score: 143546
  • Cell Name: blood cell (CL0000081)
    Fold Change: 2.57
    Marker Score: 29881
  • Cell Name: IgG-negative class switched memory B cell (CL0002117)
    Fold Change: 2.43
    Marker Score: 2396
  • Cell Name: B-1 B cell (CL0000819)
    Fold Change: 2.35
    Marker Score: 4098
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 2.34
    Marker Score: 23698
  • Cell Name: T-helper 22 cell (CL0001042)
    Fold Change: 2.32
    Marker Score: 9940
  • Cell Name: naive B cell (CL0000788)
    Fold Change: 2.32
    Marker Score: 2068
  • Cell Name: late pro-B cell (CL0002048)
    Fold Change: 2.3
    Marker Score: 2715.5
  • Cell Name: DN3 thymocyte (CL0000807)
    Fold Change: 2.29
    Marker Score: 1142
  • Cell Name: class switched memory B cell (CL0000972)
    Fold Change: 2.26
    Marker Score: 2121
  • Cell Name: CD38-negative naive B cell (CL0002102)
    Fold Change: 2.23
    Marker Score: 4666
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 2.22
    Marker Score: 3930
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 2.22
    Marker Score: 123884
  • Cell Name: IgG memory B cell (CL0000979)
    Fold Change: 2.2
    Marker Score: 1327
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 2.2
    Marker Score: 74934
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 2.18
    Marker Score: 75389
  • Cell Name: memory B cell (CL0000787)
    Fold Change: 2.17
    Marker Score: 1643
  • Cell Name: CD8-alpha-alpha-positive, alpha-beta intraepithelial T cell (CL0000915)
    Fold Change: 2.14
    Marker Score: 3036
  • Cell Name: transitional stage B cell (CL0000818)
    Fold Change: 2.13
    Marker Score: 754
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: 2.11
    Marker Score: 27865
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 2.09
    Marker Score: 2102
  • Cell Name: CD34-positive, CD38-negative hematopoietic stem cell (CL0001024)
    Fold Change: 2.08
    Marker Score: 1505
  • Cell Name: myoepithelial cell of mammary gland (CL0002324)
    Fold Change: 2.07
    Marker Score: 10163
  • Cell Name: naive thymus-derived CD8-positive, alpha-beta T cell (CL0000900)
    Fold Change: 2.06
    Marker Score: 3684
  • Cell Name: effector CD4-positive, alpha-beta T cell (CL0001044)
    Fold Change: 2.05
    Marker Score: 1919
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 2.03
    Marker Score: 6032
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 2.03
    Marker Score: 4290
  • Cell Name: double-positive, alpha-beta thymocyte (CL0000809)
    Fold Change: 2.03
    Marker Score: 3971
  • Cell Name: malignant cell (CL0001064)
    Fold Change: 2.03
    Marker Score: 27224
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 2.02
    Marker Score: 5501
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 2.01
    Marker Score: 4570
  • Cell Name: fibroblast of breast (CL4006000)
    Fold Change: 2
    Marker Score: 1142
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: 1.99
    Marker Score: 4963
  • Cell Name: CD14-positive, CD16-positive monocyte (CL0002397)
    Fold Change: 1.98
    Marker Score: 3863
  • Cell Name: neural crest cell (CL0011012)
    Fold Change: 1.97
    Marker Score: 2108
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 1.97
    Marker Score: 12797
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 1.96
    Marker Score: 8469
  • Cell Name: mature gamma-delta T cell (CL0000800)
    Fold Change: 1.95
    Marker Score: 6158
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.94
    Marker Score: 2858
  • Cell Name: large pre-B-II cell (CL0000957)
    Fold Change: 1.93
    Marker Score: 5261
  • Cell Name: type I NK T cell (CL0000921)
    Fold Change: 1.92
    Marker Score: 1510
  • Cell Name: double negative T regulatory cell (CL0011024)
    Fold Change: 1.91
    Marker Score: 1844
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 1.9
    Marker Score: 1836
  • Cell Name: germinal center B cell (CL0000844)
    Fold Change: 1.9
    Marker Score: 1157
  • Cell Name: supporting cell (CL0000630)
    Fold Change: 1.89
    Marker Score: 3549
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 1.89
    Marker Score: 4445
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 1.89
    Marker Score: 451
  • Cell Name: naive thymus-derived CD4-positive, alpha-beta T cell (CL0000895)
    Fold Change: 1.87
    Marker Score: 3206
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 1.87
    Marker Score: 21015
  • Cell Name: CD8-positive, alpha-beta cytokine secreting effector T cell (CL0000908)
    Fold Change: 1.86
    Marker Score: 804
  • Cell Name: unswitched memory B cell (CL0000970)
    Fold Change: 1.86
    Marker Score: 1088
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 1.85
    Marker Score: 1265
  • Cell Name: immature B cell (CL0000816)
    Fold Change: 1.84
    Marker Score: 1219
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 1.84
    Marker Score: 530
  • Cell Name: centroblast (CL0009112)
    Fold Change: 1.83
    Marker Score: 902
  • Cell Name: activated CD4-positive, alpha-beta T cell (CL0000896)
    Fold Change: 1.82
    Marker Score: 1314
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 1.82
    Marker Score: 449
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 1.82
    Marker Score: 3796
  • Cell Name: early lymphoid progenitor (CL0000936)
    Fold Change: 1.81
    Marker Score: 888
  • Cell Name: common lymphoid progenitor (CL0000051)
    Fold Change: 1.8
    Marker Score: 1229
  • Cell Name: hematopoietic precursor cell (CL0008001)
    Fold Change: 1.79
    Marker Score: 628
  • Cell Name: erythroid progenitor cell, mammalian (CL0001066)
    Fold Change: 1.78
    Marker Score: 570
  • Cell Name: Unknown (CL0000548)
    Fold Change: 1.77
    Marker Score: 1288
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 1.76
    Marker Score: 1857
  • Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
    Fold Change: 1.75
    Marker Score: 1102
  • Cell Name: migratory enteric neural crest cell (CL0002607)
    Fold Change: 1.75
    Marker Score: 1650
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 1.74
    Marker Score: 1160
  • Cell Name: mucosal invariant T cell (CL0000940)
    Fold Change: 1.73
    Marker Score: 1542
  • Cell Name: smooth muscle cell of large intestine (CL1000279)
    Fold Change: 1.72
    Marker Score: 652
  • Cell Name: Bergmann glial cell (CL0000644)
    Fold Change: 1.71
    Marker Score: 699
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: 1.7
    Marker Score: 1130
  • Cell Name: acinar cell (CL0000622)
    Fold Change: 1.7
    Marker Score: 1197
  • Cell Name: Unknown (CL0002371)
    Fold Change: 1.69
    Marker Score: 1793
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.69
    Marker Score: 1774
  • Cell Name: central memory CD4-positive, alpha-beta T cell (CL0000904)
    Fold Change: 1.67
    Marker Score: 1808
  • Cell Name: CD4-positive helper T cell (CL0000492)
    Fold Change: 1.67
    Marker Score: 1817
  • Cell Name: basophil (CL0000767)
    Fold Change: 1.67
    Marker Score: 793
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: 1.66
    Marker Score: 2557
  • Cell Name: common dendritic progenitor (CL0001029)
    Fold Change: 1.66
    Marker Score: 573
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 1.65
    Marker Score: 1709
  • Cell Name: basal cell (CL0000646)
    Fold Change: 1.64
    Marker Score: 2118.5
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 1.64
    Marker Score: 6701
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 1.61
    Marker Score: 2138
  • Cell Name: bronchial epithelial cell (CL0002328)
    Fold Change: 1.6
    Marker Score: 424
  • Cell Name: non-classical monocyte (CL0000875)
    Fold Change: 1.6
    Marker Score: 3861
  • Cell Name: myofibroblast cell (CL0000186)
    Fold Change: 1.6
    Marker Score: 1973
  • Cell Name: naive regulatory T cell (CL0002677)
    Fold Change: 1.6
    Marker Score: 485
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 1.59
    Marker Score: 554
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 1.58
    Marker Score: 830
  • Cell Name: central memory CD8-positive, alpha-beta T cell (CL0000907)
    Fold Change: 1.57
    Marker Score: 3836
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 1.57
    Marker Score: 5582
  • Cell Name: vasa recta ascending limb cell (CL1001131)
    Fold Change: 1.57
    Marker Score: 415
  • Cell Name: CD8-positive, alpha-beta memory T cell, CD45RO-positive (CL0001203)
    Fold Change: 1.57
    Marker Score: 4396
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 1.56
    Marker Score: 9972
  • Cell Name: glandular cell of esophagus (CL0002657)
    Fold Change: 1.56
    Marker Score: 494
  • Cell Name: gamma-delta T cell (CL0000798)
    Fold Change: 1.56
    Marker Score: 1046
  • Cell Name: CD4-positive, alpha-beta memory T cell (CL0000897)
    Fold Change: 1.55
    Marker Score: 910
  • Cell Name: stem cell (CL0000034)
    Fold Change: 1.55
    Marker Score: 3679

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Other Information

**Key characteristics:** * It is a protein of approximately 110 kDa. * It is a key component of the cap-dependent translation initiation pathway, which is responsible for initiating protein synthesis in response to specific signals. * It is also involved in the regulation of protein translation and is regulated by various cellular factors. **Pathways and functions:** * **Abc-family proteins mediated transport:** EIF2S3 is involved in the transport of proteins to the site of translation initiation. * **Activation of the mrna upon binding of the cap-binding complex and eifs:** EIF2S3 is recruited to the cap-binding complex and eIFs (eukaryotic initiation factors) upon binding of the cap-binding complex. * **Binding to 43s:** EIF2S3 then binds to 43s, a small ribosomal subunit that is required for the initiation of translation. * **Antiviral mechanism by ifn-stimulated genes:** EIF2S3 is a key regulator of the expression of antiviral genes in response to infection. * **Cap-dependent translation initiation:** EIF2S3 is also involved in the cap-dependent translation initiation pathway, where it facilitates the binding of 43s to the start codon of mRNA. * **Cellular responses to stimuli:** EIF2S3 is involved in various cellular responses to stimuli, including stress responses, starvation, and inflammation. * **Cellular response to mitochondrial stress:** EIF2S3 is also involved in the cellular response to mitochondrial stress. * **Cellular response to starvation:** EIF2S3 is a key regulator of the expression of genes involved in starvation response. * **Cytokine signaling in immune system:** EIF2S3 is involved in the regulation of cytokine signaling in the immune system. **Clinical significance:** * Mutations in EIF2S3 have been linked to several human diseases, including cancer and viral infections. * Targeting EIF2S3 has been investigated as a therapeutic strategy for cancer and other diseases that are characterized by abnormal protein synthesis.

Genular Protein ID: 975119221

Symbol: IF2G_HUMAN

Name: Eukaryotic translation initiation factor 2 subunit 3

UniProtKB Accession Codes:

P41091 A0A024RBY4 A8K2Y2 B2R5N2 B5BTZ4 Q53HK3

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 3 CORUM 1 CTD 1 ChEBI 8 ChiTaRS 1 ComplexPortal 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 1 EC 1 EMBL 10 EMDB 15 EPD 1 Ensembl 1 ExpressionAtlas 1 GO 12 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 8 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 MetOSite 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 25 PDBsum 16 PIR 1 PRINTS 1 PRO 1 PROSITE 1 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 11 RefSeq 1 Rhea 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 3 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 UniProtKB 4 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8106381

Title: Translation initiation factor eIF-2. Cloning and expression of the human cDNA encoding the gamma-subunit.

PubMed ID: 8106381

DOI: 10.1016/s0021-9258(17)41878-3

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 19054851

Title: Human protein factory for converting the transcriptome into an in vitro-expressed proteome.

PubMed ID: 19054851

DOI: 10.1038/nmeth.1273

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 12665801

Title: Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides.

PubMed ID: 12665801

DOI: 10.1038/nbt810

PubMed ID: 9736774

Title: Characterization of genes encoding translation initiation factor eIF-2gamma in mouse and human: sex chromosome localization, escape from X-inactivation and evolution.

PubMed ID: 9736774

DOI: 10.1093/hmg/7.11.1725

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 31836389

Title: Suppression of MEHMO Syndrome Mutation in eIF2 by Small Molecule ISRIB.

PubMed ID: 31836389

DOI: 10.1016/j.molcel.2019.11.008

PubMed ID: 35031321

Title: Stepwise assembly of the eukaryotic translation initiation factor 2 complex.

PubMed ID: 35031321

DOI: 10.1016/j.jbc.2022.101583

PubMed ID: 29401259

Title: Structure of a human cap-dependent 48S translation pre-initiation complex.

PubMed ID: 29401259

DOI: 10.1093/nar/gky054

PubMed ID: 31048491

Title: eIF2B-catalyzed nucleotide exchange and phosphoregulation by the integrated stress response.

PubMed ID: 31048491

DOI: 10.1126/science.aaw2922

PubMed ID: 31048492

Title: Structural basis for eIF2B inhibition in integrated stress response.

PubMed ID: 31048492

DOI: 10.1126/science.aaw4104

PubMed ID: 37507029

Title: Binding of human Cdc123 to eIF2gamma.

PubMed ID: 37507029

DOI: 10.1016/j.jsb.2023.108006

PubMed ID: 23063529

Title: eIF2gamma mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation.

PubMed ID: 23063529

DOI: 10.1016/j.molcel.2012.09.005

PubMed ID: 27333055

Title: Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy.

PubMed ID: 27333055

DOI: 10.1002/ajmg.a.37792

PubMed ID: 28055140

Title: EIF2S3 mutations associated with severe X-linked intellectual disability syndrome MEHMO.

PubMed ID: 28055140

DOI: 10.1002/humu.23170

PubMed ID: 30878599

Title: Impaired EIF2S3 function associated with a novel phenotype of X-linked hypopituitarism with glucose dysregulation.

PubMed ID: 30878599

DOI: 10.1016/j.ebiom.2019.03.013

PubMed ID: 30517694

Title: MEHMO syndrome mutation EIF2S3-I259M impairs initiator Met-tRNAiMet binding to eukaryotic translation initiation factor eIF2.

PubMed ID: 30517694

DOI: 10.1093/nar/gky1213

PubMed ID: 32799315

Title: Novel pathogenic EIF2S3 missense variants causing clinically variable MEHMO syndrome with impaired eIF2gamma translational function, and literature review.

PubMed ID: 32799315

DOI: 10.1111/cge.13831

Sequence Information:

  • Length: 472
  • Mass: 51109
  • Checksum: 7A292A6AAF6DF983
  • Sequence:
    • MAGGEAGVTL GQPHLSRQDL TTLDVTKLTP LSHEVISRQA TINIGTIGHV AHGKSTVVKA 
ISGVHTVRFK NELERNITIK LGYANAKIYK LDDPSCPRPE CYRSCGSSTP DEFPTDIPGT 
KGNFKLVRHV SFVDCPGHDI LMATMLNGAA VMDAALLLIA GNESCPQPQT SEHLAAIEIM 
KLKHILILQN KIDLVKESQA KEQYEQILAF VQGTVAEGAP IIPISAQLKY NIEVVCEYIV 
KKIPVPPRDF TSEPRLIVIR SFDVNKPGCE VDDLKGGVAG GSILKGVLKV GQEIEVRPGI 
VSKDSEGKLM CKPIFSKIVS LFAEHNDLQY AAPGGLIGVG TKIDPTLCRA DRMVGQVLGA 
VGALPEIFTE LEISYFLLRR LLGVRTEGDK KAAKVQKLSK NEVLMVNIGS LSTGGRVSAV 
KADLGKIVLT NPVCTEVGEK IALSRRVEKH WRLIGWGQIR RGVTIKPTVD DD

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.