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Gene

ENO3

enolase 3

Summary

Cytogenetic location
17p13.2
Coordinates
Chromosome 17: 4,951,119–4,957,129 (GRCh38)
Exons
12 exons across 6 kb
Protein
434 amino acids
Inheritance
Autosomal recessive
MANE Select transcript
ENST00000519602.6NM_053013.4
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

  • Glycogen Storage Disease

    • Muscle Beta-Enolase DeficiencyAutosomal recessive

      Caused by variants in ENO3, which cause exercise intolerance, muscle pain and episodes of muscle breakdown.

      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing helps avoid triggers of muscle breakdown.

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 ENO3 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 17, with a bracket where ENO3 sits. ENO3 and 39 genes near it on chromosome 17, from 4,454,124 to 5,454,123.Chromosome 1717p13.2p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.34.6 Mb4.8 Mb5 Mb5.2 Mb5.4 MbSPNS3: 4,433,940–4,488,208, forward strandSPNS3SPNS2: 4,498,839–4,539,036, forward strandSPNS2MYBBP1A: 4,538,897–4,555,403, reverse strandMYBBP1AGGT6: 4,556,342–4,560,818, reverse strandGGT6SMTNL2: 4,583,999–4,608,798, forward strandSMTNL2ALOX15: 4,629,736–4,642,294, reverse strandALOX15PELP1: 4,669,774–4,704,337, reverse strandPELP1ARRB2: 4,710,393–4,721,500, forward strandARRB2MED11: 4,731,411–4,733,610, forward strandMED11CXCL16: 4,732,915–4,740,064, reverse strandCXCL16ZMYND15: 4,739,108–4,746,119, forward strandTM4SF5: 4,771,835–4,783,220, forward strandVMO1: 4,785,281–4,790,406, reverse strandGLTPD2: 4,788,927–4,790,734, forward strandGLTPD2PSMB6: 4,796,144–4,798,503, forward strandPSMB6C17orf114: 4,801,159–4,807,013, reverse strandC17orf114PLD2: 4,807,074–4,823,434, forward strandPLD2MINK1: 4,833,147–4,898,065, forward strandMINK1CHRNE: 4,897,769–4,934,438, reverse strandC17orf107: 4,899,418–4,902,934, forward strandGP1BA: 4,932,261–4,935,023, forward strandSLC25A11: 4,934,570–4,940,156, reverse strandRNF167: 4,939,997–4,945,223, forward strandRNF167PFN1: 4,945,652–4,950,517, reverse strandPFN1ENO3: 4,951,119–4,957,129, forward strandENO3SPAG7: 4,959,226–4,967,835, reverse strandSPAG7CAMTA2: 4,967,992–4,987,684, reverse strandINCA1: 4,988,130–4,999,117, reverse strandKIF1C: 4,997,629–5,028,401, forward strandKIF1CSLC52A1: 5,032,600–5,052,009, reverse strandSLC52A1ZFP3: 5,078,241–5,096,376, forward strandZFP3ZNF232: 5,105,269–5,123,162, reverse strandZNF232USP6: 5,116,032–5,175,034, forward strandUSP6ZNF594: 5,174,019–5,191,907, reverse strandZNF594SCIMP: 5,208,915–5,234,869, reverse strandSCIMPRABEP1: 5,282,258–5,386,871, forward strandRABEP1NUP88: 5,359,641–5,420,164, reverse strandNUP88RPAIN: 5,419,066–5,432,888, forward strandRPAINC1QBP: 5,432,625–5,448,830, reverse strandC1QBPDHX33: 5,440,917–5,469,031, reverse strandDHX33Diagram of ENO3: 12 exons on the forward strand of chromosome 17Exon 7: 1 known disease-causing siteExon 9: 1 known disease-causing siteExon 1: 4,951,119–4,951,182, 64 basesExon 2: 4,951,828–4,951,914, 87 basesExon 3: 4,952,795–4,952,890, 96 basesExon 4: 4,953,051–4,953,109, 59 basesExon 5: 4,953,272–4,953,341, 70 basesExon 6: 4,953,712–4,953,845, 134 basesExon 7: 4,955,075–4,955,297, 223 basesExon 8: 4,955,407–4,955,604, 198 basesExon 9: 4,955,942–4,956,143, 202 basesExon 10: 4,956,573–4,956,681, 109 basesExon 11: 4,956,831–4,956,889, 59 basesExon 12: 4,956,978–4,957,129, 152 bases1234567891011125′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 1.5 kb of the gene's 6 kb; 1,305 of those bases code for the protein.

How a genome test reads ENO3

3

positions in ENO3 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 6 kb of ENO3, introns included, not only the 1.5 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.). ENO3 gene: enolase 3. Retrieved 16 October 2026, from https://dantelabs.com/genes/eno3

Vancouver

Dante Labs. ENO3 gene: enolase 3 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/eno3

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