Human Gene EIF2S3 (ENST00000253039.9_4) from GENCODE V47lift37
  Description: eukaryotic translation initiation factor 2 subunit gamma (from RefSeq NM_001415.4)
Gencode Transcript: ENST00000253039.9_4
Gencode Gene: ENSG00000130741.11_7
Transcript (Including UTRs)
   Position: hg19 chrX:24,073,073-24,096,927 Size: 23,855 Total Exon Count: 12 Strand: +
Coding Region
   Position: hg19 chrX:24,073,086-24,094,902 Size: 21,817 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:24,073,073-24,096,927)mRNA (may differ from genome)Protein (472 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: IF2G_HUMAN
DESCRIPTION: RecName: Full=Eukaryotic translation initiation factor 2 subunit 3; AltName: Full=Eukaryotic translation initiation factor 2 subunit gamma X; Short=eIF-2-gamma X; Short=eIF-2gX;
FUNCTION: eIF-2 functions in the early steps of protein synthesis by forming a ternary complex with GTP and initiator tRNA. This complex binds to a 40S ribosomal subunit, followed by mRNA binding to form a 43S preinitiation complex. Junction of the 60S ribosomal subunit to form the 80S initiation complex is preceded by hydrolysis of the GTP bound to eIF-2 and release of an eIF-2-GDP binary complex. In order for eIF-2 to recycle and catalyze another round of initiation, the GDP bound to eIF-2 must exchange with GTP by way of a reaction catalyzed by eIF-2B.
SUBUNIT: Heterotrimer composed of an alpha, a beta and a gamma chain.
INTERACTION: P05198:EIF2S1; NbExp=4; IntAct=EBI-1054228, EBI-1056162; P20042:EIF2S2; NbExp=3; IntAct=EBI-1054228, EBI-711977;
SIMILARITY: Belongs to the GTP-binding elongation factor family. EIF2G subfamily.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: EIF2S3
Diseases sorted by gene-association score: mental retardation, x-linked, syndromic, borck type* (1230), mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity* (369), syndromic intellectual disability (24), microcephaly (3)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 103.28 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 1680.73 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
3' UTR -516.202025-0.255 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000795 - ProtSyn_GTP-bd
IPR015256 - TIF2_gsu_C
IPR009001 - Transl_elong_EF1A/Init_IF2_C
IPR004161 - Transl_elong_EFTu/EF1A_2
IPR009000 - Transl_elong_init/rib_B-barrel

Pfam Domains:
PF00009 - Elongation factor Tu GTP binding domain
PF03144 - Elongation factor Tu domain 2
PF09173 - Initiation factor eIF2 gamma, C terminal

SCOP Domains:
50447 - Translation proteins
50465 - EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain
52540 - P-loop containing nucleoside triphosphate hydrolases

ModBase Predicted Comparative 3D Structure on P41091
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserGenome Browser
Gene DetailsGene Details Gene DetailsGene DetailsGene Details
Gene SorterGene Sorter Gene SorterGene SorterGene Sorter
 RGDEnsembl WormBaseSGD
    Protein SequenceProtein Sequence
    AlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0003743 translation initiation factor activity
GO:0003924 GTPase activity
GO:0005515 protein binding
GO:0005525 GTP binding
GO:0008135 translation factor activity, RNA binding
GO:0045296 cadherin binding

Biological Process:
GO:0006412 translation
GO:0006413 translational initiation
GO:0055085 transmembrane transport

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005850 eukaryotic translation initiation factor 2 complex
GO:0070062 extracellular exosome
GO:0005634 nucleus


-  Descriptions from all associated GenBank mRNAs
  BC019906 - Homo sapiens eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa, mRNA (cDNA clone MGC:29889 IMAGE:4419438), complete cds.
LF385337 - JP 2014500723-A/192840: Polycomb-Associated Non-Coding RNAs.
AK312247 - Homo sapiens cDNA, FLJ92541, highly similar to Homo sapiens eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa (EIF2S3), mRNA.
AK222577 - Homo sapiens mRNA for eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa variant, clone: CAE09969.
AK290397 - Homo sapiens cDNA FLJ78120 complete cds, highly similar to Homo sapiens eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa (EIF2S3), mRNA.
CU676476 - Synthetic construct Homo sapiens gateway clone IMAGE:100017336 5' read EIF2S3 mRNA.
AB590041 - Synthetic construct DNA, clone: pFN21AB4605, Homo sapiens EIF2S3 gene for eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa, without stop codon, in Flexi system.
DQ891794 - Synthetic construct clone IMAGE:100004424; FLH179992.01X; RZPDo839E09132D eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa (EIF2S3) gene, encodes complete protein.
DQ894977 - Synthetic construct Homo sapiens clone IMAGE:100009437; FLH179988.01L; RZPDo839E09131D eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa (EIF2S3) gene, encodes complete protein.
KJ904455 - Synthetic construct Homo sapiens clone ccsbBroadEn_13849 EIF2S3-like gene, encodes complete protein.
AB451353 - Homo sapiens EIF2S3 mRNA for eukaryotic translation initiation factor 2 subunit 3, partial cds, clone: FLJ08020AAAF.
AB451230 - Homo sapiens EIF2S3 mRNA for eukaryotic translation initiation factor 2 subunit 3, complete cds, clone: FLJ08020AAAN.
L19161 - Human translation initiation factor eIF-2 gamma subunit mRNA, complete cds.
LF381444 - JP 2014500723-A/188947: Polycomb-Associated Non-Coding RNAs.
LF381443 - JP 2014500723-A/188946: Polycomb-Associated Non-Coding RNAs.
LF381442 - JP 2014500723-A/188945: Polycomb-Associated Non-Coding RNAs.
LF381438 - JP 2014500723-A/188941: Polycomb-Associated Non-Coding RNAs.
LF381436 - JP 2014500723-A/188939: Polycomb-Associated Non-Coding RNAs.
LF381435 - JP 2014500723-A/188938: Polycomb-Associated Non-Coding RNAs.
BC011945 - Homo sapiens eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa, mRNA (cDNA clone IMAGE:3881739), with apparent retained intron.
LF381433 - JP 2014500723-A/188936: Polycomb-Associated Non-Coding RNAs.
LF381431 - JP 2014500723-A/188934: Polycomb-Associated Non-Coding RNAs.
LF381429 - JP 2014500723-A/188932: Polycomb-Associated Non-Coding RNAs.
LF381428 - JP 2014500723-A/188931: Polycomb-Associated Non-Coding RNAs.
LF381427 - JP 2014500723-A/188930: Polycomb-Associated Non-Coding RNAs.
JD533861 - Sequence 514885 from Patent EP1572962.
JD095316 - Sequence 76340 from Patent EP1572962.
JD345531 - Sequence 326555 from Patent EP1572962.
JD338574 - Sequence 319598 from Patent EP1572962.
JD364174 - Sequence 345198 from Patent EP1572962.
JD242760 - Sequence 223784 from Patent EP1572962.
JD331093 - Sequence 312117 from Patent EP1572962.
JD441768 - Sequence 422792 from Patent EP1572962.
JD329856 - Sequence 310880 from Patent EP1572962.
JD264559 - Sequence 245583 from Patent EP1572962.
JD256489 - Sequence 237513 from Patent EP1572962.
JD256488 - Sequence 237512 from Patent EP1572962.
JD476540 - Sequence 457564 from Patent EP1572962.
JD356416 - Sequence 337440 from Patent EP1572962.
JD505891 - Sequence 486915 from Patent EP1572962.
JD107610 - Sequence 88634 from Patent EP1572962.
JD048423 - Sequence 29447 from Patent EP1572962.
JD040915 - Sequence 21939 from Patent EP1572962.
JD117374 - Sequence 98398 from Patent EP1572962.
JD428863 - Sequence 409887 from Patent EP1572962.
LF381425 - JP 2014500723-A/188928: Polycomb-Associated Non-Coding RNAs.
LF381424 - JP 2014500723-A/188927: Polycomb-Associated Non-Coding RNAs.
JD094310 - Sequence 75334 from Patent EP1572962.
JD245632 - Sequence 226656 from Patent EP1572962.
JD302533 - Sequence 283557 from Patent EP1572962.
JD062910 - Sequence 43934 from Patent EP1572962.
JD193539 - Sequence 174563 from Patent EP1572962.
JD548891 - Sequence 529915 from Patent EP1572962.
JD438502 - Sequence 419526 from Patent EP1572962.
JD302417 - Sequence 283441 from Patent EP1572962.
LF381423 - JP 2014500723-A/188926: Polycomb-Associated Non-Coding RNAs.
JD087163 - Sequence 68187 from Patent EP1572962.
JD262175 - Sequence 243199 from Patent EP1572962.
JD165320 - Sequence 146344 from Patent EP1572962.
AF274932 - Homo sapiens PNAS-7 mRNA, partial sequence.
LF381422 - JP 2014500723-A/188925: Polycomb-Associated Non-Coding RNAs.
MA620914 - JP 2018138019-A/192840: Polycomb-Associated Non-Coding RNAs.
MA617021 - JP 2018138019-A/188947: Polycomb-Associated Non-Coding RNAs.
MA617020 - JP 2018138019-A/188946: Polycomb-Associated Non-Coding RNAs.
MA617019 - JP 2018138019-A/188945: Polycomb-Associated Non-Coding RNAs.
MA617015 - JP 2018138019-A/188941: Polycomb-Associated Non-Coding RNAs.
MA617013 - JP 2018138019-A/188939: Polycomb-Associated Non-Coding RNAs.
MA617012 - JP 2018138019-A/188938: Polycomb-Associated Non-Coding RNAs.
MA617010 - JP 2018138019-A/188936: Polycomb-Associated Non-Coding RNAs.
MA617008 - JP 2018138019-A/188934: Polycomb-Associated Non-Coding RNAs.
MA617006 - JP 2018138019-A/188932: Polycomb-Associated Non-Coding RNAs.
MA617005 - JP 2018138019-A/188931: Polycomb-Associated Non-Coding RNAs.
MA617004 - JP 2018138019-A/188930: Polycomb-Associated Non-Coding RNAs.
MA617002 - JP 2018138019-A/188928: Polycomb-Associated Non-Coding RNAs.
MA617001 - JP 2018138019-A/188927: Polycomb-Associated Non-Coding RNAs.
MA617000 - JP 2018138019-A/188926: Polycomb-Associated Non-Coding RNAs.
MA616999 - JP 2018138019-A/188925: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_eifPathway - Eukaryotic protein translation
h_vegfPathway - VEGF, Hypoxia, and Angiogenesis
h_eif2Pathway - Regulation of eIF2
h_igf1mtorpathway - Skeletal muscle hypertrophy is regulated via AKT/mTOR pathway

Reactome (by CSHL, EBI, and GO)

Protein P41091 (Reactome details) participates in the following event(s):

R-HSA-72663 De novo formation of eIF2:GTP
R-HSA-72697 Start codon recognition
R-HSA-5227009 ABCF1 binds EIF2
R-HSA-72722 eIF2 activation
R-HSA-72670 Formation of eIF2:GDP:eIF2B intermediate
R-HSA-72619 eIF2:GTP is hydrolyzed, eIFs are released
R-HSA-72669 Met-tRNAi binds to eIF2:GTP to form the ternary complex
R-HSA-72691 Formation of the 43S pre-initiation complex
R-HSA-156808 Formation of translation initiation complexes yielding circularized Ceruloplasmin mRNA in a 'closed-loop' conformation
R-HSA-157849 Formation of translation initiation complexes containing mRNA that does not circularize
R-HSA-72621 Ribosomal scanning
R-HSA-156823 Association of phospho-L13a with GAIT element of Ceruloplasmin mRNA
R-HSA-72695 Formation of the ternary complex, and subsequently, the 43S complex
R-HSA-72702 Ribosomal scanning and start codon recognition
R-HSA-382556 ABC-family proteins mediated transport
R-HSA-72731 Recycling of eIF2:GDP
R-HSA-72706 GTP hydrolysis and joining of the 60S ribosomal subunit
R-HSA-72737 Cap-dependent Translation Initiation
R-HSA-382551 Transport of small molecules
R-HSA-72613 Eukaryotic Translation Initiation
R-HSA-72649 Translation initiation complex formation
R-HSA-72766 Translation
R-HSA-156827 L13a-mediated translation
R-HSA-72662 Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: A0A024RBY4, A8K2Y2, B2R5N2, B5BTZ4, EIF2G, ENST00000253039.1, ENST00000253039.2, ENST00000253039.3, ENST00000253039.4, ENST00000253039.5, ENST00000253039.6, ENST00000253039.7, ENST00000253039.8, IF2G_HUMAN, NM_001415, P41091, Q53HK3, uc317fju.1, uc317fju.2
UCSC ID: ENST00000253039.9_4
RefSeq Accession: NM_001415.4
Protein: P41091 (aka IF2G_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.