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Gene

ELANE

elastase, neutrophil expressed

Summary

Cytogenetic location
19p13.3
Coordinates
Chromosome 19: 852,303–856,243 (GRCh38)
Exons
5 exons across 3.9 kb
Protein
267 amino acids
Inheritance
Autosomal dominant
Also known as
NE, HNE, HLE, PMN-E
Previous symbols
ELA2
MANE Select transcript
ENST00000263621.2NM_001972.4
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

  • Severe Congenital Neutropenia

    • ELANE-Related NeutropeniaAutosomal dominant

      A dominant condition caused by changes in ELANE, causing either severe congenital neutropenia or cyclic neutropenia, in which neutrophil counts fall roughly every three weeks.

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

      A diagnosis guides treatment with G-CSF and, in the severe form, monitoring for myelodysplastic syndrome and leukaemia.

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How ELANE is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 19, with a bracket where ELANE sits. ELANE and 43 genes near it on chromosome 19, from 354,273 to 1,354,272.Chromosome 1919p13.3p13.3p13.2p13.13p13.12p13.11p12p11q11q12q13.11q13.12q13.13q13.2q13.31q13.32q13.33q13.41q13.42q13.430.4 Mb0.6 Mb0.8 Mb1 Mb1.2 MbSPMAP2: 361,747–376,026, reverse strandSPMAP2C2CD4C: 405,443–409,214, reverse strandC2CD4CSHC2: 416,315–461,100, reverse strandSHC2CIMAP1D: 462,728–474,983, reverse strandCIMAP1DMADCAM1: 489,176–505,343, forward strandMADCAM1TPGS1: 507,488–520,846, forward strandTPGS1CDC34: 531,435–542,092, forward strandCDC34GZMM: 544,034–549,924, forward strandGZMMBSG: 571,277–583,498, forward strandBSGHCN2: 589,881–617,159, forward strandHCN2POLRMT: 617,168–633,619, reverse strandPOLRMTFGF22: 639,879–644,373, forward strandFGF22RNF126: 647,526–663,336, reverse strandRNF126FSTL3: 676,366–683,793, forward strandFSTL3PRSS57: 685,546–695,498, reverse strandPRSS57PALM: 708,906–748,329, forward strandPALMMISP: 748,404–764,363, forward strandMISPPTBP1: 797,075–812,327, forward strandPTBP1PLPPR3: 810,908–822,619, reverse strandAZU1: 825,097–832,018, forward strandAZU1PRTN3: 840,999–848,255, forward strandPRTN3ELANE: 852,303–856,243, forward strandELANECFD: 859,426–869,492, forward strandCFDMED16: 867,630–893,222, reverse strandMED16R3HDM4: 896,503–913,245, reverse strandR3HDM4KISS1R: 917,287–921,005, forward strandKISS1RARID3A: 924,528–975,939, forward strandARID3AWDR18: 984,248–998,438, forward strandWDR18GRIN3B: 1,000,419–1,009,732, forward strandGRIN3BTMEM259: 1,009,615–1,021,270, reverse strandTMEM259CNN2: 1,026,270–1,039,077, forward strandCNN2ABCA7: 1,039,997–1,065,572, forward strandABCA7ARHGAP45: 1,065,923–1,087,829, forward strandARHGAP45POLR2E: 1,085,104–1,095,486, reverse strandPOLR2EGPX4: 1,103,982–1,106,791, forward strandGPX4SBNO2: 1,107,634–1,174,295, reverse strandSBNO2STK11: 1,177,558–1,228,431, forward strandSTK11CBARP: 1,228,282–1,239,465, reverse strandCBARPATP5F1D: 1,241,734–1,244,828, forward strandATP5F1DMIDN: 1,248,316–1,259,145, forward strandMIDNCIRBP: 1,259,384–1,274,880, forward strandCIRBPFAM174C: 1,275,509–1,279,244, forward strandFAM174C: 1,276,021–1,279,244, forward strandEFNA2: 1,285,873–1,301,431, forward strandDiagram of ELANE: 5 exons on the forward strand of chromosome 19Exon 1: 3 known disease-causing sitesExon 2: 12 known disease-causing sitesExon 3: 7 known disease-causing sitesExon 4: 11 known disease-causing sitesExon 5: 16 known disease-causing sitesExon 1: 852,303–852,395, 93 basesExon 2: 852,876–853,032, 157 basesExon 3: 853,262–853,403, 142 basesExon 4: 855,564–855,794, 231 basesExon 5: 855,958–856,243, 286 bases123455′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 0.9 kb of the gene's 3.9 kb; 804 of those bases code for the protein.

How a genome test reads ELANE

55

positions in ELANE 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 3.9 kb of ELANE, introns included, not only the 0.9 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.). ELANE gene: elastase, neutrophil expressed. Retrieved 17 October 2026, from https://dantelabs.com/genes/elane

Vancouver

Dante Labs. ELANE gene: elastase, neutrophil expressed [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/elane

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