Seroatlas · Human Serome Atlas

EIF2B3

Translation initiation factor eIF2B subunit gamma

Also known as: EI2BG_HUMAN, EIF-2B, EIF2Bgamma

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

Protein identityUniProt · HPA

UniProt accession
Q9NR50
Gene
EIF2B3
Ensembl
ENSG00000070785
Chromosome
1
Canonical length
452 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Vesicles,Cytosol

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

452 residues, UniProt reviewed canonical sequence.

>Q9NR50|EIF2B3
     1  MEFQAVVMAV GGGSRMTDLT SSIPKPLLPV GNKPLIWYPL NLLERVGFEE VIVVTTRDVQ
    61  KALCAEFKMK MKPDIVCIPD DADMGTADSL RYIYPKLKTD VLVLSCDLIT DVALHEVVDL
   121  FRAYDASLAM LMRKGQDSIE PVPGQKGKKK AVEQRDFIGV DSTGKRLLFM ANEADLDEEL
   181  VIKGSILQKH PRIRFHTGLV DAHLYCLKKY IVDFLMENGS ITSIRSELIP YLVRKQFSSA
   241  SSQQGQEEKE EDLKKKELKS LDIYSFIKEA NTLNLAPYDA CWNACRGDRW EDLSRSQVRC
   301  YVHIMKEGLC SRVSTLGLYM EANRQVPKLL SALCPEEPPV HSSAQIVSKH LVGVDSLIGP
   361  ETQIGEKSSI KRSVIGSSCL IKDRVTITNC LLMNSVTVEE GSNIQGSVIC NNAVIEKGAD
   421  IKDCLIGSGQ RIEAKAKRVN EVIVGNDQLM EI

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against EIF2B3 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)
0.29
Highest tissue expression
72 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 72 nTPM
  • tongue: 45 nTPM
  • heart muscle: 35 nTPM
  • parathyroid gland: 28 nTPM
  • adrenal gland: 24 nTPM
  • salivary gland: 24 nTPM

Single-cell type

  • myonuclei: 445 nCPM
  • adipocytes: 217 nCPM
  • lactotrophs: 145 nCPM
  • salivary acinar cells: 134 nCPM
  • lacrimal acinar cells: 130 nCPM
  • cardiomyocytes: 126 nCPM

Immune cell

  • intermediate monocyte: 37 nTPM
  • myeloid DC: 37 nTPM
  • non-classical monocyte: 33 nTPM
  • NK-cell: 26 nTPM
  • plasmacytoid DC: 25 nTPM
  • naive CD8 T-cell: 24 nTPM

Brain region

  • white matter: 20 nTPM
  • cerebellum: 19 nTPM
  • pons: 19 nTPM
  • midbrain: 17 nTPM
  • cerebral cortex: 16 nTPM
  • hypothalamus: 16 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about EIF2B3.

Disease | AllUniProt

Conditions EIF2B3 is implicated in, by any mechanism.

  • Leukoencephalopathy with vanishing white matter 3 (VWM3) MIM:620313

Disease | GeneticClinVar

17 pathogenic / likely-pathogenic of 361 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)
0.43
gnomAD pLI
0.57
gnomAD missense Z
1.04
DepMap mean gene effect
-1.52
DepMap dependency class
pan

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% 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 EIF2B3 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 EIF2B3 as an antibody target. Whether an autoantibody or antibody against EIF2B3 could matter depends on whether native EIF2B3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

EIF2B3 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 EIF2B3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/EIF2B3. 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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