EIF2B5 eukaryotic translation initiation factor 2B subunit epsilon [Homo sapiens (human)] - Gene

Summary

Official Symbol: EIF2B5provided by HGNC
Official Full Name: eukaryotic translation initiation factor 2B subunit epsilonprovided by HGNC
Primary source: HGNC:HGNC:3261
See related: Ensembl:ENSG00000145191 MIM:603945; AllianceGenome:HGNC:3261
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: CLE; CACH; LVWM; VWM5; EIF-2B; EIF2Bepsilon
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, Nov 2009]
Expression: Ubiquitous expression in lymph node (RPKM 12.1), spleen (RPKM 11.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3q27.1

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (184135358..184145311)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (186944907..186954859)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (183853146..183863099)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

A novel missense variant in EIF2B5 identified in a consanguineous Iranian family with vanishing white matter disease and a brief review of the literature.
Title: A novel missense variant in EIF2B5 identified in a consanguineous Iranian family with vanishing white matter disease and a brief review of the literature.
CircAHNAK upregulates EIF2B5 expression to inhibit the progression of ovarian cancer by modulating the JAK2/STAT3 signaling pathway.
Title: CircAHNAK upregulates EIF2B5 expression to inhibit the progression of ovarian cancer by modulating the JAK2/STAT3 signaling pathway.
eIF2B as a Target for Viral Evasion of PKR-Mediated Translation Inhibition.
Title: eIF2B as a Target for Viral Evasion of PKR-Mediated Translation Inhibition.
Foetal onset of EIF2B related disorder in two siblings: cerebellar hypoplasia with absent Bergmann glia and severe hypomyelination.
Title: Foetal onset of EIF2B related disorder in two siblings: cerebellar hypoplasia with absent Bergmann glia and severe hypomyelination.
Vanishing white matter disease expression of truncated EIF2B5 activates induced stress response.
Title: Vanishing white matter disease expression of truncated EIF2B5 activates induced stress response.
low expression found in ovarian cancer tissues and correlated with survival status
Title: Low EIF2B5 expression predicts poor prognosis in ovarian cancer.
Exon-level analyses classified > 1,000 mRNAs as alternatively spliced under hypoxia and uncovered a unique retained intron (RI) in the master regulator of translation initiation, EIF2B5.
Title: Transcriptome analysis of hypoxic cancer cells uncovers intron retention in EIF2B5 as a mechanism to inhibit translation.
This study demonstrated that no evidence for a role of Ile587Val polymorphism of EIF2B5 gene in multiple sclerosis in Kashmir Valley if India.
Title: No evidence for a role of Ile587Val polymorphism of EIF2B5 gene in multiple sclerosis in Kashmir Valley of India.
Patient exhibits an early-infantile onset and progressive disease course resembling Cree leukoencephalopathy, suggesting a severe functional disruption of eIF2Bepsilon caused by R195H as well as by I408T mutations.
Title: A Japanese girl with an early-infantile onset vanishing white matter disease resembling Cree leukoencephalopathy.
Missense mutations in EIF2B5 are associated with multiple sclerosis.
Title: Novel mutations identified in EIF2B5 gene in Kashmiri patients as susceptibility factor for multiple sclerosis.

Submit: New GeneRIF Correction See all GeneRIFs (28)

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 5 MedGen: C5779973 OMIM: 620315 GeneReviews: Childhood Ataxia with Central Nervous System Hypomyelination / Vanishing White Matter	not available

EBI GWAS Catalog

Description
A mega-analysis of genome-wide association studies for major depressive disorder. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of EIF2B5	PubMed
Knockdown of eukaryotic translation initiation factor 2B, subunit 5 epsilon, (EIF2B5) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1	PubMed

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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

RH12776 (e-PCR)
- UniSTS:3869

STS-U23028 (e-PCR)
- UniSTS:45940

D3S3730 (e-PCR), detects polymorphism
- UniSTS:43660

D3S3592 (e-PCR), detects polymorphism
- UniSTS:47786

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
enables guanyl-nucleotide exchange factor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables guanyl-nucleotide exchange factor activity	ISS Inferred from Sequence or Structural Similarity more info
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
enables translation initiation factor activity	NAS Non-traceable Author Statement more info	PubMed
enables translation initiation factor binding	IBA Inferred from Biological aspect of Ancestor more info
enables translation initiation factor binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in T cell receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in astrocyte development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in astrocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cytoplasmic translational initiation	IDA Inferred from Direct Assay more info	PubMed
involved_in hippocampus development	IEA Inferred from Electronic Annotation more info
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 positive regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of translational initiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to endoplasmic reticulum stress	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	IMP Inferred from Mutant Phenotype more info	PubMed
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	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	IDA Inferred from Direct Assay more info
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
NOT located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: translation initiation factor eIF2B subunit epsilon

Names: eIF-2B GDP-GTP exchange factor subunit epsilon; eIF2B GDP-GTP exchange factor subunit epsilon; eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa; translation initiation factor eIF-2B subunit epsilon

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

NG_015826.1 RefSeqGene

Range

5337..15290

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1278

mRNA and Protein(s)

NM_003907.3 → NP_003898.2 translation initiation factor eIF2B subunit epsilon

See identical proteins and their annotated locations for NP_003898.2

Status: REVIEWED

Source sequence(s)

AC131235, BC013590

Consensus CDS

CCDS3252.1

UniProtKB/Swiss-Prot

Q13144, Q541Z1, Q96D04

UniProtKB/TrEMBL

A0A3B3IUB1

Related

ENSP00000497160.1, ENST00000648915.2

Conserved Domains (4) summary

cd05787
Location:361 → 439

LbH_eIF2B_epsilon; eIF-2B epsilon subunit, central Left-handed parallel beta-Helix (LbH) domain: eIF-2B is a eukaryotic translation initiator, a guanine nucleotide exchange factor (GEF) composed of five different subunits (alpha, beta, gamma, delta and epsilon). eIF2B is ...

cd04197
Location:43 → 257

eIF-2B_epsilon_N; The N-terminal domain of epsilon subunit of the eIF-2B is a subfamily of glycosyltransferase 2

cd11558
Location:548 → 711

W2_eIF2B_epsilon; C-terminal W2 domain of eukaryotic translation initiation factor 2B epsilon

COG1044
Location:300 → 410

LpxD; UDP-3-O-[3-hydroxymyristoyl] glucosamine N-acyltransferase [Cell wall/membrane/envelope biogenesis]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000003.12 Reference GRCh38.p14 Primary Assembly

Range

184135358..184145311

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047449148.1 → XP_047305104.1 translation initiation factor eIF2B subunit epsilon isoform X1

UniProtKB/TrEMBL

A0A3B3ISX3

Related

ENSP00000497503.1, ENST00000648890.1
XM_011513265.1 → XP_011511567.1 translation initiation factor eIF2B subunit epsilon isoform X2

Conserved Domains (2) summary

cd05787
Location:111 → 189

LbH_eIF2B_epsilon; eIF-2B epsilon subunit, central Left-handed parallel beta-Helix (LbH) domain: eIF-2B is a eukaryotic translation initiator, a guanine nucleotide exchange factor (GEF) composed of five different subunits (alpha, beta, gamma, delta and epsilon). eIF2B is ...

cd11558
Location:298 → 461

W2_eIF2B_epsilon; C-terminal W2 domain of eukaryotic translation initiation factor 2B epsilon
XM_011513266.4 → XP_011511568.1 translation initiation factor eIF2B subunit epsilon isoform X3

Conserved Domains (2) summary

cd05787
Location:82 → 160

LbH_eIF2B_epsilon; eIF-2B epsilon subunit, central Left-handed parallel beta-Helix (LbH) domain: eIF-2B is a eukaryotic translation initiator, a guanine nucleotide exchange factor (GEF) composed of five different subunits (alpha, beta, gamma, delta and epsilon). eIF2B is ...

cd11558
Location:269 → 432

W2_eIF2B_epsilon; C-terminal W2 domain of eukaryotic translation initiation factor 2B epsilon

Alternate T2T-CHM13v2.0

Genomic

NC_060927.1 Alternate T2T-CHM13v2.0

Range

186944907..186954859

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054348280.1 → XP_054204255.1 translation initiation factor eIF2B subunit epsilon isoform X1

UniProtKB/TrEMBL

A0A3B3ISX3
XM_054348281.1 → XP_054204256.1 translation initiation factor eIF2B subunit epsilon isoform X2
XM_054348282.1 → XP_054204257.1 translation initiation factor eIF2B subunit epsilon isoform X3