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EIF2B4 eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa [ Homo sapiens (human) ]

Gene ID: 8890, updated on 6-Jul-2014
Official Symbol
EIF2B4provided by HGNC
Official Full Name
eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDaprovided by HGNC
Primary source
HGNC:3260
See related
Ensembl:ENSG00000115211; HPRD:09459; MIM:606687; Vega:OTTHUMG00000151927
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]
See EIF2B4 in Epigenomics, MapViewer
Location:
2p23.3
Exon count :
13
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 2 NC_000002.12 (27364352..27370457, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (27587219..27593324, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene MpV17 mitochondrial inner membrane protein Neighboring gene general transcription factor IIIC, polypeptide 2, beta 110kDa Neighboring gene GTF3C2 antisense RNA 1 Neighboring gene sorting nexin 17 Neighboring gene zinc finger protein 513 Neighboring gene protein phosphatase, Mg2+/Mn2+ dependent, 1G Neighboring gene ferritin, heavy polypeptide 1 pseudogene 3

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
NHGRI GWA Catalog

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 Protein Interaction Database

  • Cap-dependent Translation Initiation, organism-specific biosystem (from REACTOME)
    Cap-dependent Translation Initiation, organism-specific biosystemTranslation initiation is a complex process in which the Met-tRNAi initiator, 40S, and 60S ribosomal subunits are assembled by eukaryotic initiation factors (eIFs) into an 80S ribosome at the start c...
  • Eukaryotic Translation Initiation, organism-specific biosystem (from REACTOME)
    Eukaryotic Translation Initiation, organism-specific biosystemInitiation of translation in the majority of eukaryotic cellular mRNAs depends on the 5'-cap (m7GpppN) and involves ribosomal scanning of the 5' untranslated region (5'-UTR) for an initiating AUG sta...
  • Gene Expression, organism-specific biosystem (from REACTOME)
    Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • RNA transport, organism-specific biosystem (from KEGG)
    RNA transport, organism-specific biosystemRNA transport from the nucleus to the cytoplasm is fundamental for gene expression. The different RNA species that are produced in the nucleus are exported through the nuclear pore complexes (NPCs) ...
  • RNA transport, conserved biosystem (from KEGG)
    RNA transport, conserved biosystemRNA transport from the nucleus to the cytoplasm is fundamental for gene expression. The different RNA species that are produced in the nucleus are exported through the nuclear pore complexes (NPCs) ...
  • Recycling of eIF2:GDP, organism-specific biosystem (from REACTOME)
    Recycling of eIF2:GDP, organism-specific biosystemThe active eIF2:GTP complex may be formed by direct binding of GTP to free eIF2 or by GDP-GTP exchange on the eIF2:GDP:eIF2B complex. The eIF2:GDP complex binds eIF2B forming an eIF2:GDP:eIF2B interm...
  • Translation, organism-specific biosystem (from REACTOME)
    Translation, organism-specific biosystemProtein synthesis is accomplished through the process of translation of an mRNA sequence into a polypeptide chain. This process can be divided into three distinct stages: initiation, elongation and ...
  • Translation Factors, organism-specific biosystem (from WikiPathways)
    Translation Factors, organism-specific biosystemProtein synthesis is the ultimate step of gene expression and a key control point for regulation. In particular, it enables cells to rapidly manipulate protein production without new mRNA synthesis, ...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NOT S-methyl-5-thioribose-1-phosphate isomerase 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 
contributes_to guanyl-nucleotide exchange factor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
contributes_to translation initiation factor activity IDA
Inferred from Direct Assay
more info
PubMed 
translation initiation factor binding ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
NOT L-methionine salvage from methylthioadenosine IBA
Inferred from Biological aspect of Ancestor
more info
 
cellular protein metabolic process TAS
Traceable Author Statement
more info
 
cellular response to stimulus IDA
Inferred from Direct Assay
more info
PubMed 
gene expression TAS
Traceable Author Statement
more info
 
myelination IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of translational initiation IBA
Inferred from Biological aspect of Ancestor
more info
 
negative regulation of translational initiation in response to stress ISS
Inferred from Sequence or Structural Similarity
more info
 
oligodendrocyte development IMP
Inferred from Mutant Phenotype
more info
PubMed 
ovarian follicle development IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of GTPase activity IDA
Inferred from Direct Assay
more info
PubMed 
regulation of GTPase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of translation NAS
Non-traceable Author Statement
more info
PubMed 
regulation of translational initiation IBA
Inferred from Biological aspect of Ancestor
more info
 
response to glucose ISS
Inferred from Sequence or Structural Similarity
more info
 
response to heat ISS
Inferred from Sequence or Structural Similarity
more info
 
response to heat TAS
Traceable Author Statement
more info
PubMed 
response to peptide hormone ISS
Inferred from Sequence or Structural Similarity
more info
 
translation TAS
Traceable Author Statement
more info
 
translational initiation IDA
Inferred from Direct Assay
more info
PubMed 
translational initiation TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
eukaryotic translation initiation factor 2B complex IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
translation initiation factor eIF-2B subunit delta
Names
translation initiation factor eIF-2B subunit delta
eIF-2B GDP-GTP exchange factor subunit delta
translation initiation factor eIF-2b delta subunit
eukaryotic translation initiation factor 2B subunit 4 delta

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 

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

mRNA and Protein(s)

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

    See proteins identical to NP_001029288.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding region, and also uses an alternate in-frame segment in the 5' coding region, compare to variant 1. The resulting protein (isoform 2) is shorter and has a distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AC074117
    Consensus CDS
    CCDS33164.1
    UniProtKB/Swiss-Prot
    Q9UI10
    Related
    ENSP00000233552, OTTHUMP00000200797, ENST00000347454, OTTHUMT00000324448
    Conserved Domains (1) summary
    pfam01008
    Location:219509
    Blast Score: 840
    IF-2B; Initiation factor 2 subunit family
  2. NM_015636.3NP_056451.3  translation initiation factor eIF-2B subunit delta isoform 3

    See proteins identical to NP_056451.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and coding region, compared to variant 1. The resulting protein (isoform 3, also known as the short isoform), is shorter and has a distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AC074117
    Consensus CDS
    CCDS46244.1
    UniProtKB/Swiss-Prot
    Q9UI10
    Related
    ENSP00000394397, OTTHUMP00000200800, ENST00000445933, OTTHUMT00000324454
    Conserved Domains (1) summary
    pfam01008
    Location:218508
    Blast Score: 840
    IF-2B; Initiation factor 2 subunit family
  3. NM_172195.3NP_751945.2  translation initiation factor eIF-2B subunit delta isoform 1

    See proteins identical to NP_751945.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) is the shortest transcript but encodes the longest isoform (1), also known as the long isoform.
    Source sequence(s)
    AF112207, AJ011306, BC091502
    Consensus CDS
    CCDS46245.1
    UniProtKB/Swiss-Prot
    Q9UI10
    Related
    ENSP00000394869, OTTHUMP00000225846, ENST00000451130, OTTHUMT00000377209
    Conserved Domains (1) summary
    pfam01008
    Location:239529
    Blast Score: 848
    IF-2B; Initiation factor 2 subunit family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000002.12 

    Range
    27364352..27370457
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006712132.1XP_006712195.1  

    Conserved Domains (1) summary
    pfam01008
    Location:203493
    Blast Score: 843
    IF-2B; Initiation factor 2 subunit family
  2. XM_005264632.1XP_005264689.1  

    See proteins identical to XP_005264689.1

    Related
    ENSP00000429323, OTTHUMP00000225847, ENST00000493344, OTTHUMT00000324449
    Conserved Domains (1) summary
    pfam01008
    Location:204494
    Blast Score: 842
    IF-2B; Initiation factor 2 subunit family

Alternate HuRef

Genomic

  1. AC_000134.1 

    Range
    27329223..27335327
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018913.2 

    Range
    27517164..27523272
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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