EIF2B2 eukaryotic translation initiation factor 2B subunit beta [Homo sapiens (human)] - Gene

Summary

Official Symbol: EIF2B2provided by HGNC
Official Full Name: eukaryotic translation initiation factor 2B subunit betaprovided by HGNC
Primary source: HGNC:HGNC:3258
See related: Ensembl:ENSG00000119718 MIM:606454; AllianceGenome:HGNC:3258
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: VWM2; EIF2B; EIF2Bbeta; EIF-2Bbeta
Summary: This gene encodes the beta subunit of eukaryotic initiation factor-2B (EIF2B). EIF2B is involved in protein synthesis and exchanges GDP and GTP for its activation and deactivation. [provided by RefSeq, Aug 2011]
Expression: Ubiquitous expression in thyroid (RPKM 32.7), adrenal (RPKM 18.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 14q24.3

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (75002921..75012366)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (69212006..69221436)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (75469624..75479069)

Chromosome 14 - NC_000014.9 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
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?

Mutational analysis of the alpha subunit of eIF2B provides insights into the role of eIF2B bodies in translational control and VWM disease.
Title: Mutational analysis of the alpha subunit of eIF2B provides insights into the role of eIF2B bodies in translational control and VWM disease.
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.
It would be better to consider Vanishing White Matter Disease as an eIF2B-related multisystem disorder, not just as a neurological disorder.
Title: eIF2B-related multisystem disorder in two sisters with atypical presentations.
An Italian patient is described with a c.638A>G mutation in exon 5 of EIF2B2 gene with very slow progressive vanishing white matter disease.
Title: Vanishing white matter disease: an Italian case with A638G mutation in exon 5 of EIF2B2 gene, an unusual early onset and a long course.
analysis of vanishing white matter disease caused by EIF2B2 mutation with the presentation of an adrenoleukodystrophy phenotype [case report]
Title: Vanishing white matter disease caused by EIF2B2 mutation with the presentation of an adrenoleukodystrophy phenotype.
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.
Study reports 9 novel mutations in EIF2B genes in 8 patients, increasing number of known mutations to >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.
Observational study of gene-disease association. (HuGE Navigator)
Title: A large-scale candidate gene association study of age at menarche and age at natural menopause.
CACH syndrome is linked to mutations in the five EIF2B--REVIEW
Title: [CACH/VWM syndrome and leucodystrophies related to EIF2B mutations].
Mutation in EIF2B2 causes childhood ataxia with central nervous system hypomyelination/ vanishing white matter leukodystrophy.
Title: Ovarian failure related to eukaryotic initiation factor 2B mutations.

Submit: New GeneRIF Correction See all GeneRIFs (12)

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

Associated conditions

Description	Tests
Leukoencephalopathy with vanishing white matter 2 MedGen: C5830404 OMIM: 620312 GeneReviews: Childhood Ataxia with Central Nervous System Hypomyelination / Vanishing White Matter	not available

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

G54015 (e-PCR)
- UniSTS:109397

RH46952 (e-PCR)
- UniSTS:72053

RH69052 (e-PCR)
- UniSTS:62655

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IDA Inferred from Direct Assay more info	PubMed
enables GTP binding	IDA Inferred from Direct Assay more info	PubMed
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
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 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 central nervous system development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cytoplasmic translational initiation	IDA Inferred from Direct Assay more info	PubMed
involved_in myelination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in oligodendrocyte development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ovarian follicle development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of translational initiation	TAS Traceable Author Statement 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	PubMed
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

General protein information

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Preferred Names: translation initiation factor eIF2B subunit beta

Names: S20I15; S20III15; eIF-2B GDP-GTP exchange factor subunit beta; eIF2B GDP-GTP exchange factor subunit beta; eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa; translation initiation factor eIF-2B subunit beta

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.