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EIF2B3 eukaryotic translation initiation factor 2B subunit gamma [ Homo sapiens (human) ]

Gene ID: 8891, updated on 11-Apr-2024

Summary

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Official Symbol
EIF2B3provided by HGNC
Official Full Name
eukaryotic translation initiation factor 2B subunit gammaprovided by HGNC
Primary source
HGNC:HGNC:3259
See related
Ensembl:ENSG00000070785 MIM:606273; AllianceGenome:HGNC:3259
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
VWM3; EIF-2B; EIF2Bgamma
Summary
The protein encoded by this gene is one of the subunits of initiation factor eIF2B, which catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP. It has also been found to function as a cofactor of hepatitis C virus internal ribosome entry site-mediated translation. Mutations in this gene have been associated with leukodystrophy with vanishing white matter. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
Expression
Ubiquitous expression in fat (RPKM 9.9), testis (RPKM 8.8) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
1p34.1
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (44850522..44986595, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (44721756..44858197, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (45316194..45452267, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr1:45284771-45285427 and GRCh37_chr1:45285428-45286084 Neighboring gene uncharacterized LOC107984952 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:45286741-45287398 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:45287399-45288054 Neighboring gene RNA, U5E small nuclear 6, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:45301586-45302086 Neighboring gene patched 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 822 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:45341567-45342238 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:45342239-45342910 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:45342911-45343582 Neighboring gene MPRA-validated peak197 silencer Neighboring gene RNA, 5S ribosomal pseudogene 47 Neighboring gene cyclin B1 interacting protein 1 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 956 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:45452269-45452850 Neighboring gene mitochondrial ribosomal protein S17 pseudogene 1 Neighboring gene peptidylprolyl isomerase A pseudogene 35

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Endoplasmic reticulum stress intolerance in EIF2B3 mutant oligodendrocytes is modulated by depressed autophagy. Chen N, et al. Brain Dev, 2016 May. PMID 26625702
  2. Fifteen novel EIF2B1-5 mutations identified in Chinese children with leukoencephalopathy with vanishing white matter and a long term follow-up. Zhang H, et al. PLoS One, 2015. PMID 25761052, Free PMC Article
  3. Adult-onset vanishing white matter disease due to a novel EIF2B3 mutation. La Piana R, et al. Arch Neurol, 2012 Jun. PMID 22312164, Free PMC Article
  4. Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5. Matsukawa T, et al. Neurogenetics, 2011 Aug. PMID 21484434
  5. Identification of eIF2Bgamma and eIF2gamma as cofactors of hepatitis C virus internal ribosome entry site-mediated translation using a functional genomics approach. Kruger M, et al. Proc Natl Acad Sci U S A, 2000 Jul 18. PMID 10900014, Free PMC Article

See all (83) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Eif2b3 mutants recapitulate phenotypes of vanishing white matter disease and validate novel disease alleles in zebrafish.
    Title: Eif2b3 mutants recapitulate phenotypes of vanishing white matter disease and validate novel disease alleles in zebrafish.
  2. To determine the tolerance differences to ERS, cell viability and apoptosis rates were detected in oligodendrocyte cell lines transfected with EIF2B3-c.1037T>C or the wild type. We confirmed that oligodendrocytes with mutant EIF2B3 was less tolerant to ERS than the wild type, with decreased cell viability and increased apoptosis rates.
    Title: Endoplasmic reticulum stress intolerance in EIF2B3 mutant oligodendrocytes is modulated by depressed autophagy.
  3. Results show significant higher incidence of Chinese patients with EIF2B3 mutations compared with Caucasian patients. The c.1037T>C in EIF2B3 was confirmed to be a founder mutation in Chinese explaining the genotypic differences between ethnicities.
    Title: Fifteen novel EIF2B1-5 mutations identified in Chinese children with leukoencephalopathy with vanishing white matter and a long term follow-up.
  4. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  5. Observational study of gene-disease association. (HuGE Navigator)
    Title: No evidence that polymorphisms of the vanishing white matter disease genes are risk factors in multiple sclerosis.
  6. Study reports 9 novel mutations in EIF2B genes in 8 patients, increasing number of known mutations to more than 120. Using homology modeling, analyzed the impact of novel mutations on the 5 subunits of eIF2B protein (alpha, beta, gamma, delta, epsilon)
    Title: Genetic and clinical heterogeneity in eIF2B-related disorder.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables guanyl-nucleotide exchange factor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
contributes_to guanyl-nucleotide exchange factor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables guanyl-nucleotide exchange factor activity IDA
Inferred from Direct Assay
more info
 PubMed 
contributes_to guanyl-nucleotide exchange factor activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
contributes_to translation factor activity, RNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
contributes_to translation initiation factor activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in T cell receptor signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in cytoplasmic translational initiation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cytoplasmic translational initiation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in oligodendrocyte development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in response to glucose ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in response to heat ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in response to heat TAS
Traceable Author Statement
more info
  
involved_in response to peptide hormone ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in translational initiation IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
part_of eukaryotic translation initiation factor 2B complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of eukaryotic translation initiation factor 2B complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of guanyl-nucleotide exchange factor complex IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
translation initiation factor eIF2B subunit gamma; translation initiation factor eIF-2B subunit gamma
Names
eIF-2B GDP-GTP exchange factor subunit gamma
eIF2B GDP-GTP exchange factor subunit gamma
eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_015864.1 RefSeqGene

    Range
    5095..141168
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001166588.3 → NP_001160060.1  translation initiation factor eIF2B subunit gamma isoform 2

    See identical proteins and their annotated locations for NP_001160060.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 3' end compared to variant 1, and encodes a shorter isoform (2) with a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AK024006, AL834288, AW972575, DA162797
    Consensus CDS
    CCDS53313.1
    UniProtKB/Swiss-Prot
    Q9NR50
    Related
    ENSP00000361257.3, ENST00000372183.7
    Conserved Domains (3) summary
    cd04198
    Location:3 → 212
    eIF-2B_gamma_N; The N-terminal domain of gamma subunit of the eIF-2B is a subfamily of glycosyltransferase 2
    COG1208
    Location:4 → 399
    GCD1; NDP-sugar pyrophosphorylase, includes eIF-2Bgamma, eIF-2Bepsilon, and LPS biosynthesis proteins [Translation, ribosomal structure and biogenesis, Cell wall/membrane/envelope biogenesis]
    cl00160
    Location:357 → 401
    LbetaH; Left-handed parallel beta-Helix (LbetaH or LbH) domain: The alignment contains 5 turns, each containing three imperfect tandem repeats of a hexapeptide repeat motif (X-[STAV]-X-[LIV]-[GAED]-X). Proteins containing hexapeptide repeats are often enzymes ...

  2. NM_001261418.2 → NP_001248347.1  translation initiation factor eIF2B subunit gamma isoform 3

    See identical proteins and their annotated locations for NP_001248347.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks the penultimate exon compared to variant 1. The resulting protein (isoform 3) is shorter compared to isoform 1.
    Source sequence(s)
    AL136380, BC018728
    Consensus CDS
    CCDS72775.1
    UniProtKB/Swiss-Prot
    Q9NR50
    Related
    ENSP00000483996.1, ENST00000620860.4
    Conserved Domains (3) summary
    cd04198
    Location:3 → 212
    eIF-2B_gamma_N; The N-terminal domain of gamma subunit of the eIF-2B is a subfamily of glycosyltransferase 2
    COG1208
    Location:4 → 399
    GCD1; NDP-sugar pyrophosphorylase, includes eIF-2Bgamma, eIF-2Bepsilon, and LPS biosynthesis proteins [Translation, ribosomal structure and biogenesis, Cell wall/membrane/envelope biogenesis]
    cl00160
    Location:357 → 401
    LbetaH; Left-handed parallel beta-Helix (LbetaH or LbH) domain: The alignment contains 5 turns, each containing three imperfect tandem repeats of a hexapeptide repeat motif (X-[STAV]-X-[LIV]-[GAED]-X). Proteins containing hexapeptide repeats are often enzymes ...

  3. NM_020365.5 → NP_065098.1  translation initiation factor eIF2B subunit gamma isoform 1

    See identical proteins and their annotated locations for NP_065098.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AK022399, AK024006, BC018728, BF879213, DA162797, W21485
    Consensus CDS
    CCDS517.1
    UniProtKB/Swiss-Prot
    B2RBH8, D3DPZ2, Q5QP89, Q5QP90, Q8NDB5, Q8WV57, Q9H850, Q9NR50
    Related
    ENSP00000353575.2, ENST00000360403.7
    Conserved Domains (2) summary
    cd04198
    Location:3 → 212
    eIF-2B_gamma_N; The N-terminal domain of gamma subunit of the eIF-2B is a subfamily of glycosyltransferase 2
    COG1208
    Location:4 → 447
    GCD1; NDP-sugar pyrophosphorylase, includes eIF-2Bgamma, eIF-2Bepsilon, and LPS biosynthesis proteins [Translation, ribosomal structure and biogenesis, Cell wall/membrane/envelope biogenesis]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    44850522..44986595 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047433500.1 → XP_047289456.1  translation initiation factor eIF-2B subunit gamma isoform X2

  2. XM_047433499.1 → XP_047289455.1  translation initiation factor eIF-2B subunit gamma isoform X1

  3. XM_047433501.1 → XP_047289457.1  translation initiation factor eIF-2B subunit gamma isoform X3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    44721756..44858197 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054339465.1 → XP_054195440.1  translation initiation factor eIF-2B subunit gamma isoform X2

  2. XM_054339464.1 → XP_054195439.1  translation initiation factor eIF-2B subunit gamma isoform X1

  3. XM_054339466.1 → XP_054195441.1  translation initiation factor eIF-2B subunit gamma isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NR50.1 GenPept UniProtKB/Swiss-Prot:Q9NR50

Gene LinkOut

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