Seroatlas · Human Serome Atlas

EIF2B4

Translation initiation factor eIF2B subunit delta

Also known as: DKFZP586J0119, EI2BD_HUMAN, EIF-2B, EIF2B, EIF2Bdelta

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q9UI10
Gene
EIF2B4
Ensembl
ENSG00000115211
Chromosome
2
Canonical length
523 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Endoplasmic reticulum

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

523 residues, UniProt reviewed canonical sequence.

>Q9UI10|EIF2B4
     1  MAAVAVAVRE DSGSGMKAEL PPGPGAVGRE MTKEEKLQLR KEKKQQKKKR KEEKGAEPET
    61  GSAVSAAQCQ VGPTRELPES GIQLGTPREK VPAGRSKAEL RAERRAKQEA ERALKQARKG
   121  EQGGPPPKAS PSTAGETPSG VKRLPEYPQV DDLLLRRLVK KPERQQVPTR KDYGSKVSLF
   181  SHLPQYSRQN SLTQFMSIPS SVIHPAMVRL GLQYSQGLVS GSNARCIALL RALQQVIQDY
   241  TTPPNEELSR DLVNKLKPYM SFLTQCRPLS ASMHNAIKFL NKEITSVGSS KREEEAKSEL
   301  RAAIDRYVQE KIVLAAQAIS RFAYQKISNG DVILVYGCSS LVSRILQEAW TEGRRFRVVV
   361  VDSRPWLEGR HTLRSLVHAG VPASYLLIPA ASYVLPEVSK VLLGAHALLA NGSVMSRVGT
   421  AQLALVARAH NVPVLVCCET YKFCERVQTD AFVSNELDDP DDLQCKRGEH VALANWQNHA
   481  SLRLLNLVYD VTPPELVDLV ITELGMIPCS SVPVVLRVKS SDQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against EIF2B4 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.38
Highest tissue expression
56 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 56 nTPM
  • testis: 39 nTPM
  • pancreas: 36 nTPM
  • colon: 34 nTPM
  • tongue: 33 nTPM
  • skin: 32 nTPM

Single-cell type

  • late spermatids: 420 nCPM
  • early spermatids: 224 nCPM
  • late primary spermatocytes: 126 nCPM
  • esophageal apical cells: 111 nCPM
  • syncytiotrophoblasts: 55 nCPM
  • esophageal suprabasal cells: 48 nCPM

Immune cell

  • basophil: 57 nTPM
  • classical monocyte: 54 nTPM
  • myeloid DC: 53 nTPM
  • non-classical monocyte: 53 nTPM
  • intermediate monocyte: 48 nTPM
  • MAIT T-cell: 45 nTPM

Brain region

  • midbrain: 20 nTPM
  • medulla oblongata: 20 nTPM
  • thalamus: 20 nTPM
  • basal ganglia: 19 nTPM
  • cerebellum: 19 nTPM
  • white matter: 19 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about EIF2B4.

Disease | AllUniProt

Conditions EIF2B4 is implicated in, by any mechanism.

  • Leukoencephalopathy with vanishing white matter 4 (VWM4) MIM:620314

Disease | GeneticClinVar

38 pathogenic / likely-pathogenic of 510 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.33
gnomAD pLI
0.96
gnomAD missense Z
0.8
DepMap mean gene effect
-1.73
DepMap dependency class
pan

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of EIF2B4 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads EIF2B4 as an antibody target. Whether an autoantibody or antibody against EIF2B4 could matter depends on whether native EIF2B4 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

EIF2B4 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label EIF2B4 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/EIF2B4. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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