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Gene

EPG5

ectopic P-granules 5 autophagy tethering factor

Summary

Cytogenetic location
18q12.3-q21.1
Coordinates
Chromosome 18: 45,847,609–45,967,329 (GRCh38)
Exons
44 exons across 119.7 kb
Protein
2,579 amino acids
Also known as
hEPG5
Previous symbols
KIAA1632
MANE Select transcript
ENST00000282041.11NM_020964.3
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

No Genome Test report reads EPG5 yet. The test sequences your whole genome, so your data includes it all the same.

How EPG5 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 18, with a bracket where EPG5 sits. EPG5 and 8 genes near it on chromosome 18, from 45,407,469 to 46,407,468.Chromosome 1818q12.3-q21.1p11.32p11.31p11.23p11.22p11.21p11.1q11.1q11.2q12.1q12.2q12.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q2345.6 Mb45.8 Mb46 Mb46.2 Mb46.4 MbSLC14A2: 45,212,995–45,683,688, forward strandSLC14A2SLC14A1: 45,687,025–45,752,521, forward strandSLC14A1SIGLEC15: 45,825,675–45,844,218, forward strandSIGLEC15EPG5: 45,847,609–45,967,329, reverse strandEPG5PSTPIP2: 45,983,536–46,072,367, reverse strandPSTPIP2ATP5F1A: 46,080,248–46,104,334, reverse strandATP5F1AHAUS1: 46,104,326–46,129,589, forward strandHAUS1ARK2N: 46,173,497–46,321,788, forward strandARK2NARK2C: 46,326,809–46,463,140, forward strandARK2CDiagram of EPG5: 44 exons on the reverse strand of chromosome 18Exon 43: 2 known disease-causing sitesExon 42: 1 known disease-causing siteExon 41: 3 known disease-causing sitesExon 40: 2 known disease-causing sitesExon 39: 3 known disease-causing sitesExon 38: 4 known disease-causing sitesExon 37: 3 known disease-causing sitesExon 36: 3 known disease-causing sitesExon 35: 7 known disease-causing sitesExon 34: 1 known disease-causing siteExon 33: 4 known disease-causing sitesExon 32: 8 known disease-causing sitesExon 31: 6 known disease-causing sitesExon 29: 3 known disease-causing sitesExon 28: 2 known disease-causing sitesExon 27: 5 known disease-causing sitesExon 26: 5 known disease-causing sitesExon 25: 2 known disease-causing sitesExon 24: 2 known disease-causing sitesExon 23: 3 known disease-causing sitesExon 22: 5 known disease-causing sitesExon 21: 5 known disease-causing sitesExon 20: 4 known disease-causing sitesExon 19: 6 known disease-causing sitesExon 18: 3 known disease-causing sitesExon 17: 5 known disease-causing sitesExon 16: 3 known disease-causing sitesExon 15: 1 known disease-causing siteExon 14: 3 known disease-causing sitesExon 13: 3 known disease-causing sitesExon 12: 2 known disease-causing sitesExon 11: 3 known disease-causing sitesExon 10: 3 known disease-causing sitesExon 9: 2 known disease-causing sitesExon 8: 1 known disease-causing siteExon 7: 2 known disease-causing sitesExon 6: 2 known disease-causing sitesExon 5: 2 known disease-causing sitesExon 4: 2 known disease-causing sitesExon 3: 6 known disease-causing sitesExon 2: 20 known disease-causing sitesExon 1: 2 known disease-causing sitesExon 44: 45,847,609–45,852,649, 5,041 basesExon 43: 45,855,573–45,855,687, 115 basesExon 42: 45,857,853–45,858,068, 216 basesExon 41: 45,858,566–45,858,782, 217 basesExon 40: 45,860,104–45,860,346, 243 basesExon 39: 45,865,615–45,865,759, 145 basesExon 38: 45,866,798–45,867,007, 210 basesExon 37: 45,867,563–45,867,748, 186 basesExon 36: 45,870,567–45,870,742, 176 basesExon 35: 45,876,236–45,876,342, 107 basesExon 34: 45,878,376–45,878,448, 73 basesExon 33: 45,879,013–45,879,214, 202 basesExon 32: 45,880,075–45,880,223, 149 basesExon 31: 45,882,274–45,882,487, 214 basesExon 30: 45,884,617–45,884,811, 195 basesExon 29: 45,887,751–45,887,907, 157 basesExon 28: 45,889,798–45,889,940, 143 basesExon 27: 45,899,404–45,899,566, 163 basesExon 26: 45,900,996–45,901,167, 172 basesExon 25: 45,903,973–45,904,117, 145 basesExon 24: 45,907,958–45,908,081, 124 basesExon 23: 45,910,521–45,910,742, 222 basesExon 22: 45,912,290–45,912,456, 167 basesExon 21: 45,913,706–45,913,828, 123 basesExon 20: 45,915,511–45,915,621, 111 basesExon 19: 45,916,009–45,916,206, 198 basesExon 18: 45,916,438–45,916,582, 145 basesExon 17: 45,917,679–45,917,819, 141 basesExon 16: 45,922,341–45,922,600, 260 basesExon 15: 45,923,268–45,923,387, 120 basesExon 14: 45,925,738–45,925,902, 165 basesExon 13: 45,928,869–45,929,009, 141 basesExon 12: 45,930,676–45,930,830, 155 basesExon 11: 45,934,809–45,934,966, 158 basesExon 10: 45,939,600–45,939,755, 156 basesExon 9: 45,943,161–45,943,311, 151 basesExon 8: 45,944,005–45,944,119, 115 basesExon 7: 45,946,663–45,946,768, 106 basesExon 6: 45,948,503–45,948,576, 74 basesExon 5: 45,949,484–45,949,591, 108 basesExon 4: 45,951,102–45,951,238, 137 basesExon 3: 45,952,400–45,952,643, 244 basesExon 2: 45,954,394–45,955,338, 945 basesExon 1: 45,967,177–45,967,329, 153 bases4440353025201510515′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 12.7 kb of the gene's 119.7 kb; 7,740 of those bases code for the protein.

How a genome test reads EPG5

186

positions in EPG5 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 119.7 kb of EPG5, introns included, not only the 12.7 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.
  • 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.). EPG5 gene: ectopic P-granules 5 autophagy tethering factor. Retrieved 17 October 2026, from https://dantelabs.com/genes/epg5

Vancouver

Dante Labs. EPG5 gene: ectopic P-granules 5 autophagy tethering factor [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/epg5

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