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EIF2B4 eukaryotic translation initiation factor 2B subunit delta [ Homo sapiens (human) ]

Gene ID: 8890, updated on 31-Jul-2021

Summary

Official Symbol
EIF2B4provided by HGNC
Official Full Name
eukaryotic translation initiation factor 2B subunit deltaprovided by HGNC
Primary source
HGNC:HGNC:3260
See related
Ensembl:ENSG00000115211 MIM:606687
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
EIF2B; EIF-2B; EIF2Bdelta
Summary
Eukaryotic initiation factor 2B (EIF2B), which is necessary for protein synthesis, is a GTP exchange factor composed of five different subunits. The protein encoded by this gene is the fourth, or delta, subunit. Defects in this gene are a cause of leukoencephalopathy with vanishing white matter (VWM) and ovarioleukodystrophy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in testis (RPKM 20.0), prostate (RPKM 13.7) and 25 other tissues See more
Orthologs
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Genomic context

See EIF2B4 in Genome Data Viewer
Location:
2p23.3
Exon count:
13
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (27364352..27370341, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (27587219..27593205, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene general transcription factor IIIC subunit 2 Neighboring gene GTF3C2 antisense RNA 1 Neighboring gene GTF3C2 antisense RNA 2 Neighboring gene sorting nexin 17 Neighboring gene zinc finger protein 513 Neighboring gene protein phosphatase, Mg2+/Mn2+ dependent 1G Neighboring gene ferritin heavy chain 1 pseudogene 3

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Leukoencephalopathy with vanishing white matter Compare labs
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
GeneReviews: Not available

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of eukaryotic translation initiation factor 2B, subunit 4 delta (EIF2B4, 67kDa) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp586J0119

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to 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 
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 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 catalytic activity IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of translation NAS
Non-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
 
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 IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
translation initiation factor eIF-2B subunit delta
Names
eIF-2B GDP-GTP exchange factor subunit delta
eukaryotic translation initiation factor 2B subunit 4 delta
eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa
translation initiation factor eIF-2b delta subunit

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_009305.1 RefSeqGene

    Range
    5001..11106
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001034116.2NP_001029288.1  translation initiation factor eIF-2B subunit delta isoform 2

    See identical proteins and their annotated locations for NP_001029288.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 4. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 4.
    Source sequence(s)
    AF112207, BC091502, JQ991007
    Consensus CDS
    CCDS33164.1
    UniProtKB/Swiss-Prot
    Q9UI10
    Related
    ENSP00000233552.6, ENST00000347454.9
    Conserved Domains (1) summary
    pfam01008
    Location:219509
    IF-2B; Initiation factor 2 subunit family
  2. NM_001318965.2NP_001305894.1  translation initiation factor eIF-2B subunit delta isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) encodes the longest isoform (4).
    Source sequence(s)
    AC074117, AF112207, BC001870, BG717490
    Consensus CDS
    CCDS82432.1
    UniProtKB/Swiss-Prot
    Q9UI10
    UniProtKB/TrEMBL
    E7ERK9
    Related
    ENSP00000429323.1, ENST00000493344.6
    Conserved Domains (2) summary
    COG1184
    Location:240538
    GCD2; Translation initiation factor 2B subunit, eIF-2B alpha/beta/delta family [Translation, ribosomal structure and biogenesis]
    pfam01008
    Location:240530
    IF-2B; Initiation factor 2 subunit family
  3. NM_001318966.2NP_001305895.1  translation initiation factor eIF-2B subunit delta isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and coding sequence compared to variant 4. The resulting isoform (5) is shorter at the N-terminus compared to isoform 4.
    Source sequence(s)
    AC074117, AF112207, AF218009, AK300734
    UniProtKB/Swiss-Prot
    Q9UI10
    UniProtKB/TrEMBL
    B4DUP5, Q9HBP7
    Conserved Domains (2) summary
    COG1184
    Location:204502
    GCD2; Translation initiation factor 2B subunit, eIF-2B alpha/beta/delta family [Translation, ribosomal structure and biogenesis]
    pfam01008
    Location:204494
    IF-2B; Initiation factor 2 subunit family
  4. NM_001318967.2NP_001305896.1  translation initiation factor eIF-2B subunit delta isoform 6

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR and coding sequence and uses an alternate in-frame splice junction compared to variant 4. The resulting isoform (6) is shorter at the N-terminus and lacks an alternate internal aa compared to isoform 4.
    Source sequence(s)
    AC074117, AF057699, AF112207, JQ991007
    UniProtKB/Swiss-Prot
    Q9UI10
    UniProtKB/TrEMBL
    F8W8L6, Q71US4
    Conserved Domains (2) summary
    COG1184
    Location:188486
    GCD2; Translation initiation factor 2B subunit, eIF-2B alpha/beta/delta family [Translation, ribosomal structure and biogenesis]
    pfam01008
    Location:188478
    IF-2B; Initiation factor 2 subunit family
  5. NM_001318968.2NP_001305897.1  translation initiation factor eIF-2B subunit delta isoform 7

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) uses an alternate splice junction compared to variant 4. The resulting isoform (7) is shorter at the N-terminus compared to isoform 4.
    Source sequence(s)
    AF112207, AJ011306, BC001870, BI255289
    UniProtKB/Swiss-Prot
    Q9UI10
    Conserved Domains (2) summary
    COG1184
    Location:24322
    GCD2; Translation initiation factor 2B subunit, eIF-2B alpha/beta/delta family [Translation, ribosomal structure and biogenesis]
    pfam01008
    Location:24314
    IF-2B; Initiation factor 2 subunit family
  6. NM_001318969.2NP_001305898.1  translation initiation factor eIF-2B subunit delta isoform 8

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) differs in the 5' UTR and coding sequence compared to variant 4. The resulting isoform (8) is shorter at the N-terminus compared to isoform 4.
    Source sequence(s)
    AC074117
    Conserved Domains (1) summary
    pfam01008
    Location:13303
    IF-2B; Initiation factor 2 subunit family
  7. NM_015636.4NP_056451.3  translation initiation factor eIF-2B subunit delta isoform 3

    See identical proteins and their annotated locations for NP_056451.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence and uses an alternate in-frame splice junction compared to variant 4. The resulting isoform (3) has a shorter and distinct N-terminus and lacks an internal aa compared to isoform 4.
    Source sequence(s)
    AC074117
    Consensus CDS
    CCDS46244.1
    UniProtKB/Swiss-Prot
    Q9UI10
    Related
    ENSP00000394397.2, ENST00000445933.6
    Conserved Domains (2) summary
    COG1184
    Location:218516
    GCD2; Translation initiation factor 2B subunit, eIF-2B alpha/beta/delta family [Translation, ribosomal structure and biogenesis]
    pfam01008
    Location:218508
    IF-2B; Initiation factor 2 subunit family
  8. NM_172195.4NP_751945.2  translation initiation factor eIF-2B subunit delta isoform 1

    See identical proteins and their annotated locations for NP_751945.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) uses an alternate in-frame splice junction compared to variant 4. The resulting isoform (1, also known as the "long" isoform)) has the same N- and C-termini but is 1 aa shorter compared to isoform 4.
    Source sequence(s)
    AF112207, AJ011306, BC091502
    Consensus CDS
    CCDS46245.1
    UniProtKB/Swiss-Prot
    Q9UI10
    Related
    ENSP00000394869.2, ENST00000451130.6
    Conserved Domains (2) summary
    COG1184
    Location:239537
    GCD2; Translation initiation factor 2B subunit, eIF-2B alpha/beta/delta family [Translation, ribosomal structure and biogenesis]
    pfam01008
    Location:239529
    IF-2B; Initiation factor 2 subunit family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    27364352..27370341 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011533147.2XP_011531449.1  translation initiation factor eIF-2B subunit delta isoform X2

    Conserved Domains (1) summary
    pfam01008
    Location:13303
    IF-2B; Initiation factor 2 subunit family
  2. XM_006712132.1XP_006712195.1  translation initiation factor eIF-2B subunit delta isoform X1

    Conserved Domains (2) summary
    COG1184
    Location:203501
    GCD2; Translation initiation factor 2B subunit, eIF-2B alpha/beta/delta family [Translation, ribosomal structure and biogenesis]
    pfam01008
    Location:203493
    IF-2B; Initiation factor 2 subunit family
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