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Gene

EIF2B3

eukaryotic translation initiation factor 2B subunit gamma

Summary

Cytogenetic location
1p34.1
Coordinates
Chromosome 1: 44,850,522–44,986,595 (GRCh38)
Exons
12 exons across 136.1 kb
Protein
452 amino acids
Inheritance
Autosomal recessive
Also known as
EIF2Bgamma, EIF-2B
MANE Select transcript
ENST00000360403.7NM_020365.5
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Vanishing White Matter Disease

    • Leukoencephalopathy with vanishing white matter (EIF2B1 to EIF2B5)Autosomal recessive

      Causes progressive ataxia and spasticity with stepwise decline after stresses such as fever or head trauma; onset ranges from before birth to adulthood, and some women also have early ovarian failure.

      • ClinGen rates the link definitive
      • 4 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing the diagnosis allows families to prevent and promptly treat fever and infections and avoid head injury, which can trigger episodes of decline.

Broader groupings

  • Other Inherited Leukodystrophies

    • Leukodystrophy (other and unspecified types)

      One of 80 genes linked to it

      Inherited conditions that damage or prevent the normal formation of myelin, the white matter of the brain and spinal cord. Different types follow autosomal recessive, autosomal dominant or X-linked inheritance depending on the gene involved.

      • ClinGen rates the link definitive
      • 4 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing the specific genetic cause can end a diagnostic search, guide supportive care and surveillance, show whether a specific treatment exists, and allow testing of relatives.

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How EIF2B3 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 1, with a bracket where EIF2B3 sits. EIF2B3 and 18 genes near it on chromosome 1, from 44,418,559 to 45,418,558.Chromosome 11p34.1p36.33p36.32p36.31p36.23p36.22p36.21p36.13p36.12p36.11p35.3p35.2p35.1p34.3p34.2p34.1p33p32.3p32.2p32.1p31.3p31.2p31.1p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q21.1q21.2q21.3q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q31.1q31.2q31.3q32.1q32.2q32.3q41q42.11q42.12q42.13q42.2q42.3q43q4444.6 Mb44.8 Mb45 Mb45.2 Mb45.4 MbRNF220: 44,405,142–44,651,724, forward strandRNF220TMEM53: 44,635,237–44,674,619, reverse strandTMEM53ARMH1: 44,674,692–44,725,591, forward strandARMH1KIF2C: 44,739,810–44,767,767, forward strandKIF2CRPS8: 44,775,251–44,779,124, forward strandBEST4: 44,781,836–44,791,550, reverse strandPLK3: 44,799,915–44,805,995, forward strandPLK3DYNLT4: 44,805,885–44,807,417, reverse strandDYNLT4BTBD19: 44,808,506–44,817,381, forward strandBTBD19PTCH2: 44,819,154–44,843,253, reverse strandPTCH2EIF2B3: 44,850,522–44,986,595, reverse strandEIF2B3HECTD3: 45,002,540–45,011,369, reverse strandHECTD3UROD: 45,010,950–45,015,577, forward strandURODZSWIM5: 45,016,395–45,306,209, reverse strandZSWIM5HPDL: 45,326,895–45,328,710, forward strandHPDLMUTYH: 45,329,163–45,340,893, reverse strandMUTYH: 45,329,262–45,491,155, reverse strandTOE1: 45,339,938–45,345,623, forward strandTOE1TESK2: 45,343,877–45,491,203, reverse strandDiagram of EIF2B3: 12 exons on the reverse strand of chromosome 1Exon 9: 1 known disease-causing siteExon 8: 2 known disease-causing sitesExon 7: 3 known disease-causing sitesExon 6: 2 known disease-causing sitesExon 5: 1 known disease-causing siteExon 3: 3 known disease-causing sitesExon 2: 2 known disease-causing sitesExon 12: 44,850,522–44,851,003, 482 basesExon 11: 44,857,704–44,857,807, 104 basesExon 10: 44,874,678–44,874,826, 149 basesExon 9: 44,875,618–44,875,695, 78 basesExon 8: 44,879,818–44,880,008, 191 basesExon 7: 44,881,612–44,881,739, 128 basesExon 6: 44,897,355–44,897,444, 90 basesExon 5: 44,926,628–44,926,739, 112 basesExon 4: 44,941,506–44,941,665, 160 basesExon 3: 44,978,315–44,978,460, 146 basesExon 2: 44,981,021–44,981,177, 157 basesExon 1: 44,986,493–44,986,595, 103 bases1210864215′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 1.9 kb of the gene's 136.1 kb; 1,359 of those bases code for the protein.

How a genome test reads EIF2B3

15

positions in EIF2B3 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 136.1 kb of EIF2B3, introns included, not only the 1.9 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). EIF2B3 gene: eukaryotic translation initiation factor 2B subunit gamma. Retrieved 16 October 2026, from https://dantelabs.com/genes/eif2b3

Vancouver

Dante Labs. EIF2B3 gene: eukaryotic translation initiation factor 2B subunit gamma [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/eif2b3

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