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

    Gene ID: 8890, updated on 5-Mar-2024

    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; AllianceGenome:HGNC:3260
    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
    VWM4; 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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See EIF2B4 in Genome Data Viewer
    Location:
    2p23.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (27364352..27370338, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (27406760..27412735, complement)
    105.20220307 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 mitochondrial inner membrane protein MPV17 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:27543343-27543946 Neighboring gene Sharpr-MPRA regulatory regions 9483 and 12628 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15495 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15496 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15497 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15498 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:27545801-27546773 Neighboring gene general transcription factor IIIC subunit 2 Neighboring gene GTF3C2 antisense RNA 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr2:27579025-27579638 and GRCh37_chr2:27579639-27580252 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:27582391-27583132 Neighboring gene GTF3C2 antisense RNA 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:27592451-27593412 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:27593413-27594374 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15506 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:27601343-27602213 Neighboring gene sorting nexin 17 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11297 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

    EBI GWAS Catalog

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

    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

    Clone Names

    • DKFZp586J0119

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in T cell receptor signaling pathway IDA
    Inferred from Direct Assay
    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 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 eIF2B subunit delta
    Names
    eIF-2B GDP-GTP exchange factor subunit delta
    eIF2B 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 subunit delta
    translation initiation factor eIF-2b delta subunit

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5120..11106
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001034116.2NP_001029288.1  translation initiation factor eIF2B 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
      Q53RY7, Q5BJF4, Q9BUV9, Q9UBG4, Q9UI10, Q9UIQ9, Q9UJ95
      UniProtKB/TrEMBL
      Q71US4
      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 eIF2B 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/TrEMBL
      E7ERK9, Q71US4
      Related
      ENSP00000429323.1, ENST00000493344.6
      Conserved Domains (1) summary
      pfam01008
      Location:240530
      IF-2B; Initiation factor 2 subunit family
    3. NM_001318966.2NP_001305895.1  translation initiation factor eIF2B 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/TrEMBL
      Q71US4
      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 eIF2B 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/TrEMBL
      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 eIF2B 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/TrEMBL
      Q9Y3W7
      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 eIF2B 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
      UniProtKB/TrEMBL
      Q9Y3W7
      Conserved Domains (1) summary
      pfam01008
      Location:13303
      IF-2B; Initiation factor 2 subunit family
    7. NM_015636.4NP_056451.3  translation initiation factor eIF2B 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/TrEMBL
      Q71US4
      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 eIF2B 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/TrEMBL
      Q71US4
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      27364352..27370338 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      27406760..27412735 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)