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Gene

EIF2AK4

eukaryotic translation initiation factor 2 alpha kinase 4

Summary

Cytogenetic location
15q15.1
Coordinates
Chromosome 15: 39,934,115–40,035,591 (GRCh38)
Exons
39 exons across 101.5 kb
Protein
1,649 amino acids
Also known as
GCN2, KIAA1338
MANE Select transcript
ENST00000263791.10NM_001013703.4
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 report relevant to this gene

  • Heritable Pulmonary Arterial Hypertension (HPAH)

    • Pulmonary Veno-Occlusive Disease and/or Pulmonary Capillary Haemangiomatosis

      A rare form of pulmonary hypertension caused by narrowing of the small veins and capillaries in the lungs, most often caused by changes in EIF2AK4.

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

      Knowing about it matters because some standard pulmonary hypertension medicines can cause fluid on the lungs in this condition, and early referral for transplant assessment may be needed.

    • Pulmonary Veno-Occlusive Disease

      Narrowing or blockage of the small veins in the lungs that leads to pulmonary hypertension, with inherited forms caused by changes in BMPR2 or EIF2AK4.

      • 2 GenCC submitters rate it definitive or strong

How EIF2AK4 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 15, with a bracket where EIF2AK4 sits. EIF2AK4 and 18 genes near it on chromosome 15, from 39,484,853 to 40,484,852.Chromosome 1515q15.1p13p12p11.2p11.1q11.1q11.2q12q13.1q13.2q13.3q14q15.1q15.2q15.3q21.1q21.2q21.3q22.1q22.2q22.31q22.32q22.33q23q24.1q24.2q24.3q25.1q25.2q25.3q26.1q26.2q26.339.6 Mb39.8 Mb40 Mb40.2 Mb40.4 MbTHBS1: 39,580,130–39,599,466, forward strandTHBS1FSIP1: 39,588,357–39,782,858, reverse strandFSIP1GPR176: 39,799,003–39,920,976, reverse strandGPR176EIF2AK4: 39,934,115–40,035,591, forward strandEIF2AK4SRP14: 40,032,985–40,039,186, reverse strandSRP14BMF: 40,087,889–40,108,928, reverse strandBMFBUB1B: 40,160,984–40,221,137, forward strandBUB1BPAK6: 40,217,428–40,277,489, forward strandPAK6BUB1B-PAK6: 40,218,500–40,264,890, forward strandBUB1B-PAK6PLCB2: 40,278,176–40,307,965, reverse strandPLCB2ANKRD63: 40,278,372–40,283,064, reverse strandANKRD63INAFM2: 40,323,692–40,326,715, forward strandINAFM2CCDC9B: 40,331,452–40,340,954, reverse strandCCDC9BPHGR1: 40,351,025–40,357,622, forward strandPHGR1DISP2: 40,358,219–40,378,621, forward strandDISP2KNSTRN: 40,382,721–40,395,659, forward strandKNSTRNIVD: 40,405,485–40,435,956, forward strandIVDBAHD1: 40,436,611–40,468,242, forward strandBAHD1CHST14: 40,470,984–40,473,158, forward strandCHST14Diagram of EIF2AK4: 39 exons on the forward strand of chromosome 15Exon 1: 1 known disease-causing siteExon 5: 1 known disease-causing siteExon 9: 2 known disease-causing sitesExon 11: 1 known disease-causing siteExon 12: 1 known disease-causing siteExon 13: 1 known disease-causing siteExon 21: 1 known disease-causing siteExon 28: 1 known disease-causing siteExon 29: 1 known disease-causing siteExon 31: 2 known disease-causing sitesExon 32: 1 known disease-causing siteExon 35: 1 known disease-causing siteExon 36: 1 known disease-causing siteExon 1: 39,934,115–39,934,339, 225 basesExon 2: 39,939,505–39,939,617, 113 basesExon 3: 39,943,383–39,943,485, 103 basesExon 4: 39,949,116–39,949,268, 153 basesExon 5: 39,953,904–39,953,984, 81 basesExon 6: 39,955,620–39,955,768, 149 basesExon 7: 39,961,784–39,961,899, 116 basesExon 8: 39,965,686–39,965,843, 158 basesExon 9: 39,967,344–39,967,879, 536 basesExon 10: 39,972,908–39,973,014, 107 basesExon 11: 39,973,592–39,973,749, 158 basesExon 12: 39,976,414–39,976,844, 431 basesExon 13: 39,978,078–39,978,147, 70 basesExon 14: 39,985,805–39,985,888, 84 basesExon 15: 39,987,983–39,988,105, 123 basesExon 16: 39,990,273–39,990,377, 105 basesExon 17: 39,992,175–39,992,229, 55 basesExon 18: 39,992,769–39,992,848, 80 basesExon 19: 39,996,964–39,997,065, 102 basesExon 20: 39,998,731–39,998,784, 54 basesExon 21: 40,000,988–40,001,224, 237 basesExon 22: 40,002,713–40,002,788, 76 basesExon 23: 40,003,193–40,003,314, 122 basesExon 24: 40,007,016–40,007,065, 50 basesExon 25: 40,008,027–40,008,195, 169 basesExon 26: 40,009,614–40,009,730, 117 basesExon 27: 40,011,281–40,011,346, 66 basesExon 28: 40,016,502–40,016,672, 171 basesExon 29: 40,017,108–40,017,242, 135 basesExon 30: 40,019,093–40,019,200, 108 basesExon 31: 40,020,899–40,021,027, 129 basesExon 32: 40,022,519–40,022,605, 87 basesExon 33: 40,025,977–40,026,089, 113 basesExon 34: 40,029,406–40,029,464, 59 basesExon 35: 40,030,359–40,030,456, 98 basesExon 36: 40,032,169–40,032,237, 69 basesExon 37: 40,032,757–40,032,801, 45 basesExon 38: 40,034,326–40,034,444, 119 basesExon 39: 40,035,027–40,035,591, 565 bases15101520253035395′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 5.5 kb of the gene's 101.5 kb; 4,950 of those bases code for the protein.

How a genome test reads EIF2AK4

19

positions in EIF2AK4 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 101.5 kb of EIF2AK4, introns included, not only the 5.5 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.). EIF2AK4 gene: eukaryotic translation initiation factor 2 alpha kinase 4. Retrieved 16 October 2026, from https://dantelabs.com/genes/eif2ak4

Vancouver

Dante Labs. EIF2AK4 gene: eukaryotic translation initiation factor 2 alpha kinase 4 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/eif2ak4

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