EIF2B1 eukaryotic translation initiation factor 2B subunit alpha [Homo sapiens (human)] - Gene

Summary

Official Symbol: EIF2B1provided by HGNC
Official Full Name: eukaryotic translation initiation factor 2B subunit alphaprovided by HGNC
Primary source: HGNC:HGNC:3257
See related: Ensembl:ENSG00000111361 MIM:606686; AllianceGenome:HGNC:3257
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: VWM1; EIF2B; EIF2BA; EIF2Balpha
Summary: This gene encodes one of five subunits of eukaryotic translation initiation factor 2B (EIF2B), a GTP exchange factor for eukaryotic initiation factor 2 and an essential regulator for protein synthesis. Mutations in this gene and the genes encoding other EIF2B subunits have been associated with leukoencephalopathy with vanishing white matter. [provided by RefSeq, Oct 2009]
Expression: Ubiquitous expression in lymph node (RPKM 22.1), skin (RPKM 20.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q24.31

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (123620406..123633686, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (123619272..123632550, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (124104953..124118233, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Shielding the mRNA-translation factor eIF2B from inhibitory p-eIF2 as a viral strategy to evade protein kinase R-mediated innate immunity.
Title: Shielding the mRNA-translation factor eIF2B from inhibitory p-eIF2 as a viral strategy to evade protein kinase R-mediated innate immunity.
Our results establish de novo EIF2B1 mutations as a novel cause of permanent diabetes and liver dysfunction. These findings confirm the importance of cell stress regulation for beta-cells and highlight EIF2B1's fundamental role within this pathway.
Title: De Novo Mutations in EIF2B1 Affecting eIF2 Signaling Cause Neonatal/Early-Onset Diabetes and Transient Hepatic Dysfunction.
Data show that eIF2Balpha and eIF2Bbeta bind to adjacent surfaces on eIF2alpha-N-terminal domains (NTDs).
Title: Novel mechanisms of eIF2B action and regulation by eIF2α phosphorylation.
Oligodendrocytes with truncated or deletion mutants eIF2B showed less tolerable to endoplasmic reticulum stress
Title: Different Eukaryotic Initiation Factor 2Bε Mutations Lead to Various Degrees of Intolerance to the Stress of Endoplasmic Reticulum in Oligodendrocytes.
These data emphasize the importance of eIF2Balpha in mediating the eIF2 kinase translation-inhibitory activity and may provide insight into the complex nature of vesiculovirus oncolysis.
Title: The alpha subunit of eukaryotic initiation factor 2B (eIF2B) is required for eIF2-mediated translational suppression of vesicular stomatitis virus.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Crystal structure of the alpha subunit of human translation initiation factor 2B.
Title: Crystal structure of the alpha subunit of human translation initiation factor 2B.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
The authors suspected VWM and sequenced the genes EIF2B1-5, which revealed one heterozygous mutation in EIF2B4.
Title: Conversion of a normal MRI into an MRI showing a cystic leukoencephalopathy is not a known feature of vanishing white matter.
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 See all GeneRIFs (13)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Leukoencephalopathy with vanishing white matter 1 MedGen: C5779972 OMIM: 603896 GeneReviews: Childhood Ataxia with Central Nervous System Hypomyelination / Vanishing White Matter	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-N26791 (e-PCR)
- UniSTS:26396

G43592 (e-PCR)
- UniSTS:95033

EIF2B1_615 (e-PCR)
- UniSTS:280652

D12S1138E (e-PCR)
- UniSTS:151424

NoName (e-PCR)
- UniSTS:486529

G20768 (e-PCR)
- UniSTS:18855

A006F32 (e-PCR)
- UniSTS:18856

WI-12310 (e-PCR)
- UniSTS:82089

G59913 (e-PCR)
- UniSTS:137195

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
contributes_to 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
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
contributes_to translation initiation factor activity	IBA Inferred from Biological aspect of Ancestor more info
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	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	IBA Inferred from Biological aspect of Ancestor 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
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: translation initiation factor eIF2B subunit alpha

Names: eIF-2B GDP-GTP exchange factor subunit alpha; eIF2B GDP-GTP exchange factor subunit alpha; eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa

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.