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Gene

EIF2B1

eukaryotic translation initiation factor 2B subunit alpha

Summary

Cytogenetic location
12q24.31
Coordinates
Chromosome 12: 123,620,406–123,633,686 (GRCh38)
Exons
9 exons across 13.3 kb
Protein
305 amino acids
Inheritance
Autosomal recessive
Also known as
EIF-2Balpha, EIF-2B, EIF2BA, EIF2Balpha
Previous symbols
EIF2B
MANE Select transcript
ENST00000424014.7NM_001414.4
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

  • Diabetes Mellitus

    • A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization.

      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      Teplizumab (Tzield) for stage 2 presymptomatic T1D (FDA approved 2022); insulin replacement at clinical T1D onset; TrialNet autoantibody screening for high-risk relatives; closed-loop insulin delivery systems

  • Neonatal Diabetes Mellitus

    • Diabetes diagnosed in the first months of life, either permanent or transient, caused by single-gene defects in insulin production or secretion.

      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      Most people with KCNJ11 or ABCC8 neonatal diabetes can switch from insulin injections to sulfonylurea tablets, often with better glucose control.

  • 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 EIF2B1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 12, with a bracket where EIF2B1 sits. EIF2B1 and 18 genes near it on chromosome 12, from 123,127,046 to 124,127,045.Chromosome 1212q24.31p13.33p13.32p13.31p13.2p13.1p12.3p12.2p12.1p11.23p11.22p11.21p11.1q11q12q13.11q13.12q13.13q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.31q24.32q24.33123.2 Mb123.4 Mb123.6 Mb123.8 Mb124 MbPITPNM2: 122,983,480–123,151,666, reverse strandPITPNM2MPHOSPH9: 123,152,320–123,244,014, reverse strandMPHOSPH9MTRFR: 123,232,142–123,258,079, forward strandMTRFRCDK2AP1: 123,250,112–123,272,334, reverse strandCDK2AP1SBNO1: 123,289,109–123,365,220, reverse strandSBNO1KMT5A: 123,384,087–123,409,353, forward strandKMT5ARILPL2: 123,409,258–123,436,756, reverse strandRILPL2SNRNP35: 123,458,078–123,473,154, forward strandSNRNP35RILPL1: 123,467,802–123,534,417, reverse strandRILPL1TMED2: 123,584,514–123,598,582, forward strandTMED2DDX55: 123,602,073–123,620,943, forward strandDDX55EIF2B1: 123,620,406–123,633,686, reverse strandEIF2B1GTF2H3: 123,633,739–123,662,604, forward strandGTF2H3TCTN2: 123,671,110–123,708,403, forward strandTCTN2ATP6V0A2: 123,712,334–123,761,760, forward strandATP6V0A2DNAH10: 123,761,878–123,935,720, forward strandDNAH10CCDC92: 123,918,660–123,974,253, reverse strandCCDC92ZNF664: 123,971,745–124,015,445, forward strandZNF664RFLNA: 123,973,241–124,316,024, forward strandRFLNADiagram of EIF2B1: 9 exons on the reverse strand of chromosome 12Exon 9: 3 known disease-causing sitesExon 6: 1 known disease-causing siteExon 5: 2 known disease-causing sitesExon 4: 1 known disease-causing siteExon 2: 1 known disease-causing siteExon 9: 123,620,406–123,621,920, 1,515 basesExon 8: 123,622,636–123,622,761, 126 basesExon 7: 123,624,787–123,624,862, 76 basesExon 6: 123,626,425–123,626,493, 69 basesExon 5: 123,627,044–123,627,156, 113 basesExon 4: 123,630,169–123,630,285, 117 basesExon 3: 123,630,397–123,630,533, 137 basesExon 2: 123,632,345–123,632,446, 102 basesExon 1: 123,633,545–123,633,686, 142 bases9876543215′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 2.4 kb of the gene's 13.3 kb; 918 of those bases code for the protein.

How a genome test reads EIF2B1

9

positions in EIF2B1 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 13.3 kb of EIF2B1, introns included, not only the 2.4 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.). EIF2B1 gene: eukaryotic translation initiation factor 2B subunit alpha. Retrieved 17 October 2026, from https://dantelabs.com/genes/eif2b1

Vancouver

Dante Labs. EIF2B1 gene: eukaryotic translation initiation factor 2B subunit alpha [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/eif2b1

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