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Gene

PSEN2

presenilin 2

Summary

Cytogenetic location
1q42.13
Coordinates
Chromosome 1: 226,870,616–226,896,098 (GRCh38)
Exons
13 exons across 25.5 kb
Protein
448 amino acids
Also known as
AD3L, STM2, PS2, PS-2, E5-1
Previous symbols
AD4
MANE Select transcript
ENST00000366783.8NM_000447.3
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 report relevant to this gene

  • Alzheimer disease

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

      Enhanced screening, cognitive engagement, cardiovascular health optimization, anti-amyloid therapies (lecanemab), prevention trial eligibility

How PSEN2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 1, with a bracket where PSEN2 sits. PSEN2 and 6 genes near it on chromosome 1, from 226,383,357 to 227,383,356.Chromosome 11q42.13p36.33p36.32p36.31p36.23p36.22p36.21p36.13p36.12p36.11p35.3p35.2p35.1p34.3p34.2p34.1p33p32.3p32.2p32.1p31.3p31.2p31.1p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q21.1q21.2q21.3q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q31.1q31.2q31.3q32.1q32.2q32.3q41q42.11q42.12q42.13q42.2q42.3q43q44226.4 Mb226.6 Mb226.8 Mb227 Mb227.2 MbPARP1: 226,360,210–226,408,154, reverse strandPARP1STUM: 226,548,714–226,609,230, forward strandSTUMITPKB: 226,611,241–226,739,450, reverse strandITPKB: 226,870,184–226,987,545, forward strandPSEN2: 226,870,616–226,896,098, forward strandPSEN2COQ8A: 226,938,143–226,987,569, forward strandCOQ8ACDC42BPA: 226,989,865–227,318,519, reverse strandCDC42BPADiagram of PSEN2: 13 exons on the forward strand of chromosome 1Exon 5: 1 known disease-causing siteExon 6: 1 known disease-causing siteExon 7: 1 known disease-causing siteExon 8: 1 known disease-causing siteExon 1: 226,870,616–226,870,649, 34 basesExon 2: 226,871,262–226,871,404, 143 basesExon 3: 226,875,365–226,875,550, 186 basesExon 4: 226,881,888–226,882,048, 161 basesExon 5: 226,883,705–226,883,919, 215 basesExon 6: 226,885,538–226,885,679, 142 basesExon 7: 226,888,091–226,888,158, 68 basesExon 8: 226,888,829–226,889,049, 221 basesExon 9: 226,890,035–226,890,133, 99 basesExon 10: 226,891,278–226,891,361, 84 basesExon 11: 226,891,743–226,891,844, 102 basesExon 12: 226,894,007–226,894,125, 119 basesExon 13: 226,895,424–226,896,098, 675 bases124681012135′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 2.2 kb of the gene's 25.5 kb; 1,347 of those bases code for the protein.

How a genome test reads PSEN2

6

positions in PSEN2 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 25.5 kb of PSEN2, introns included, not only the 2.2 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.). PSEN2 gene: presenilin 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/psen2

Vancouver

Dante Labs. PSEN2 gene: presenilin 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/psen2

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