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

Summary

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: mouse all
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Genomic context

Location:: 1p34.1

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (44850522..44986595, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (44721756..44858197, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (45316194..45452267, complement)

Chromosome 1 - NC_000001.11 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?

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.
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.
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.
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.
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.
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.

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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 3 MedGen: C5830405 OMIM: 620313 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

D1S2546 (e-PCR)
- UniSTS:70212

SHGC-74692 (e-PCR)
- UniSTS:82334

AL009463 (e-PCR)
- UniSTS:6817

SHGC-111559 (e-PCR)
- UniSTS:168397

SHGC-57832 (e-PCR)
- UniSTS:81627

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
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

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; translation initiation factor eIF-2B subunit gamma

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_015864.1 RefSeqGene

Range

5095..141168

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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 ...
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 ...
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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

44850522..44986595 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047433500.1 → XP_047289456.1 translation initiation factor eIF2B subunit gamma isoform X2
XM_047433499.1 → XP_047289455.1 translation initiation factor eIF2B subunit gamma isoform X1
XM_047433501.1 → XP_047289457.1 translation initiation factor eIF2B subunit gamma isoform X3

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

44721756..44858197 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054339465.1 → XP_054195440.1 translation initiation factor eIF2B subunit gamma isoform X2
XM_054339464.1 → XP_054195439.1 translation initiation factor eIF2B subunit gamma isoform X1
XM_054339466.1 → XP_054195441.1 translation initiation factor eIF2B subunit gamma isoform X3