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)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 345.1729
    Cell Significance Index: -53.6900
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 163.0636
    Cell Significance Index: -41.3600
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 153.6846
    Cell Significance Index: -63.3100
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 131.4277
    Cell Significance Index: -62.0500
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 122.8943
    Cell Significance Index: -63.2200
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 92.6497
    Cell Significance Index: -62.1700
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 48.3878
    Cell Significance Index: -59.6600
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 21.5913
    Cell Significance Index: -57.8400
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 16.4222
    Cell Significance Index: -50.4400
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 15.6080
    Cell Significance Index: -61.5900
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 11.5737
    Cell Significance Index: -25.3300
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 2.7939
    Cell Significance Index: 180.2500
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 2.1652
    Cell Significance Index: 297.3400
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 1.9977
    Cell Significance Index: 235.5900
  • Cell Name: peg cell (CL4033014)
    Fold Change: 1.8383
    Cell Significance Index: 42.4700
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 1.8270
    Cell Significance Index: 224.6500
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 1.8091
    Cell Significance Index: 85.0300
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.7591
    Cell Significance Index: 24.0000
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 1.7131
    Cell Significance Index: 935.5800
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 1.6011
    Cell Significance Index: 43.5800
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 1.5717
    Cell Significance Index: 283.3300
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 1.5631
    Cell Significance Index: 110.5500
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 1.4427
    Cell Significance Index: 186.3800
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.3827
    Cell Significance Index: 64.4700
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.3116
    Cell Significance Index: 260.3000
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 1.2255
    Cell Significance Index: 35.1300
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 1.2104
    Cell Significance Index: 535.1400
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 1.1437
    Cell Significance Index: 68.6600
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 1.0964
    Cell Significance Index: 20.2700
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 1.0120
    Cell Significance Index: 26.6100
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.9745
    Cell Significance Index: 26.0200
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.8802
    Cell Significance Index: 150.3000
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.8022
    Cell Significance Index: 17.3800
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.7785
    Cell Significance Index: 58.0200
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.6988
    Cell Significance Index: 36.3000
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.6890
    Cell Significance Index: 622.0700
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.6612
    Cell Significance Index: 132.6300
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.6536
    Cell Significance Index: 19.2000
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.6193
    Cell Significance Index: 21.5200
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 0.6161
    Cell Significance Index: 7.8900
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.6148
    Cell Significance Index: 78.8200
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.5316
    Cell Significance Index: 4.9000
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 0.5211
    Cell Significance Index: 5.9200
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.4348
    Cell Significance Index: 12.1500
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.4304
    Cell Significance Index: 9.0100
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.4206
    Cell Significance Index: 41.6000
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.3285
    Cell Significance Index: 9.4700
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.3271
    Cell Significance Index: 117.3300
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2497
    Cell Significance Index: 47.5100
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.2397
    Cell Significance Index: 15.1100
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.1988
    Cell Significance Index: 9.0100
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 0.1177
    Cell Significance Index: 1.2800
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.0520
    Cell Significance Index: 2.7300
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0447
    Cell Significance Index: 84.2400
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.0173
    Cell Significance Index: 0.9700
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0133
    Cell Significance Index: 24.5200
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0119
    Cell Significance Index: 18.3400
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0005
    Cell Significance Index: -0.4000
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0134
    Cell Significance Index: -8.5200
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0191
    Cell Significance Index: -14.0300
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0218
    Cell Significance Index: -29.6500
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0359
    Cell Significance Index: -22.4200
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0372
    Cell Significance Index: -3.8000
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0389
    Cell Significance Index: -28.7800
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0607
    Cell Significance Index: -4.6600
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0646
    Cell Significance Index: -36.4100
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0680
    Cell Significance Index: -4.1800
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0682
    Cell Significance Index: -30.9700
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1482
    Cell Significance Index: -31.2200
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: -0.1531
    Cell Significance Index: -2.7100
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1752
    Cell Significance Index: -50.4200
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.1932
    Cell Significance Index: -6.7900
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.2109
    Cell Significance Index: -30.6600
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.2405
    Cell Significance Index: -27.4600
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: -0.2597
    Cell Significance Index: -42.2300
  • Cell Name: kidney cell (CL1000497)
    Fold Change: -0.2655
    Cell Significance Index: -2.1200
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.3134
    Cell Significance Index: -35.9000
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.3467
    Cell Significance Index: -40.4000
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.4131
    Cell Significance Index: -13.2300
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.4564
    Cell Significance Index: -11.6600
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.4727
    Cell Significance Index: -12.6700
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.4953
    Cell Significance Index: -8.2900
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.5112
    Cell Significance Index: -34.3700
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.5240
    Cell Significance Index: -54.5600
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.5729
    Cell Significance Index: -14.3200
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.5910
    Cell Significance Index: -15.8100
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.5960
    Cell Significance Index: -7.1100
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.6011
    Cell Significance Index: -47.6100
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.6302
    Cell Significance Index: -16.2000
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.6924
    Cell Significance Index: -34.9900
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -0.6994
    Cell Significance Index: -10.4800
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: -0.7183
    Cell Significance Index: -4.3400
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: -0.8099
    Cell Significance Index: -5.0700
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.8597
    Cell Significance Index: -52.7100
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.8648
    Cell Significance Index: -14.8200
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.8880
    Cell Significance Index: -39.2800
  • Cell Name: oral mucosa squamous cell (CL1001576)
    Fold Change: -0.9159
    Cell Significance Index: -7.8700
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -1.0634
    Cell Significance Index: -22.6500
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: -1.0790
    Cell Significance Index: -18.6000
  • Cell Name: theca cell (CL0000503)
    Fold Change: -1.0911
    Cell Significance Index: -6.4100

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** EIF2S3 is a gamma subunit of the eIF2 complex, which consists of three subunits: eIF2α, eIF2β, and eIF2γ. eIF2γ is a GTP-binding protein that plays a crucial role in the interaction between the eIF2 complex and the ribosome. The gamma subunit is highly conserved across species, suggesting its essential function in eukaryotic translation initiation. EIF2S3 is expressed in various cell types, including hematopoietic cells, muscle cells, and immune cells, highlighting its importance in different cellular contexts. **Pathways and Functions:** EIF2S3 is involved in several key pathways, including: 1. **Antiviral mechanism by IFN-stimulated genes:** eIF2γ interacts with IFN-stimulated genes (ISGs) to regulate the translation of antiviral mRNAs, thereby providing a cellular defense against viral infections. 2. **Cap-dependent translation initiation:** eIF2γ is essential for the binding of the cap-binding complex to mRNA, which is a critical step in the initiation of translation. 3. **Immune system activation:** eIF2γ has been implicated in the regulation of immune responses, including the activation of T cells and the production of cytokines. 4. **Stress response:** eIF2γ plays a role in the unfolded protein response (UPR), which is activated in response to endoplasmic reticulum stress. **Functions:** EIF2S3 has several key functions, including: 1. **Translation regulation:** eIF2γ regulates the translation of mRNAs by interacting with the ribosome and other translation initiation factors. 2. **Antiviral defense:** eIF2γ plays a crucial role in the regulation of antiviral mRNAs, thereby providing a cellular defense against viral infections. 3. **Immune system activation:** eIF2γ has been implicated in the regulation of immune responses, including the activation of T cells and the production of cytokines. 4. **Stress response:** eIF2γ plays a role in the unfolded protein response (UPR), which is activated in response to endoplasmic reticulum stress. **Clinical Significance:** EIF2S3 has significant clinical implications, particularly in the context of immune system disorders and cancer. Dysregulation of eIF2γ has been implicated in various diseases, including: 1. **Multiple sclerosis:** eIF2γ has been shown to play a role in the regulation of immune responses in multiple sclerosis, a chronic autoimmune disease. 2. **Cancer:** eIF2γ has been implicated in the regulation of cancer cell growth and survival, highlighting its potential as a therapeutic target. 3. **Neurodegenerative diseases:** eIF2γ has been implicated in the regulation of neurodegenerative diseases, such as Alzheimer's disease and Parkinson's disease. In conclusion, EIF2S3 is a critical component of the eIF2 complex, which plays a central role in regulating eukaryotic translation initiation. Beyond its role in translation regulation, eIF2γ has been implicated in various cellular processes, including antiviral responses, immune system activation, and stress response. Further research is needed to fully elucidate the clinical significance of EIF2S3 and its potential as a therapeutic target in various diseases.

Genular Protein ID: 975119221

Symbol: IF2G_HUMAN

Name: Eukaryotic translation initiation factor 2 subunit 3

UniProtKB Accession Codes:

Database IDs:

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. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.