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Gene

APP

amyloid beta precursor protein

Summary

Cytogenetic location
21q21.3
Coordinates
Chromosome 21: 25,880,550–26,170,770 (GRCh38)
Exons
18 exons across 290.2 kb
Protein
770 amino acids
Inheritance
Autosomal dominant
Also known as
alpha-sAPP
Previous symbols
AD1
MANE Select transcript
ENST00000346798.8NM_000484.4
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 reports 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

  • Cerebral Amyloid Angiopathy

    • Autosomal dominant

      Hereditary cerebral hemorrhage with amyloidosis (HCHWA) describes a group of rare familial central nervous system disorders characterized by amyloid deposition in the cerebral blood vessels leading to hemorrhagic and non-hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia.

      • ClinGen rates the link definitive
      • 3 GenCC submitters rate it definitive or strong

  • Hereditary Amyloidosis

    • Autosomal dominant

      Hereditary amyloidosis refers to a group of inherited conditions that make up one of the subtypes of amyloidosis. Hereditary amyloidosisis characterized by the deposit of an abnormal protein called amyloid in multiple organs of the body where it should not be, which causes disruption of organ tissue structure and function. In hereditary amyloidosis, amyloid deposits most often occur in tissues of the heart, kidneys, and nervous system. While symptoms of hereditary amyloidosis may appear in childhood, most individuals do not experience symptoms until adulthood. There are many types of hereditary amyloidosis associated with different gene mutations and abnormal proteins. The most common type of hereditary amyloidosis is transthyretin amyloidosis (ATTR), a condition in which the amyloid deposits are most often made up of the transthyretin protein which is made in the liver. Other examplesof hereditary amyloidosis include, but are not limited to, apolipoprotein AI amyloidosis (A ApoAI), gelsolin amyloidosis (A Gel), lysozyme amyloidosis (A Lys), cystatin C amyloidosis (A Cys), fibrinogen Aα-chain amyloidosis (A Fib), and apolipoprotein AII amyloidosis (A ApoAII).

      • ClinGen rates the link definitive
      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      Tafamidis (kinetic stabilizer), patisiran (RNAi), vutrisiran (RNAi), inotersen (antisense), liver transplantation

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 APP is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 21, with a bracket where APP sits. APP and 5 genes near it on chromosome 21, from 25,525,660 to 26,525,659.Chromosome 2121q21.3p13p12p11.2p11.1q11.1q11.2q21.1q21.2q21.3q22.11q22.12q22.13q22.2q22.325.6 Mb25.8 Mb26 Mb26.2 Mb26.4 MbMRPL39: 25,572,145–25,607,588, reverse strandMRPL39JAM2: 25,639,258–25,717,783, forward strandJAM2ATP5PF: 25,693,623–25,735,721, reverse strandATP5PFGABPA: 25,734,570–25,772,460, forward strandGABPAAPP: 25,880,550–26,170,770, reverse strandAPPCYYR1: 26,466,209–26,573,314, reverse strandCYYR1Diagram of APP: 18 exons on the reverse strand of chromosome 21Exon 17: 13 known disease-causing sitesExon 16: 3 known disease-causing sitesExon 18: 25,880,550–25,881,771, 1,222 basesExon 17: 25,891,722–25,891,868, 147 basesExon 16: 25,897,573–25,897,673, 101 basesExon 15: 25,905,024–25,905,077, 54 basesExon 14: 25,911,741–25,911,962, 222 basesExon 13: 25,954,590–25,954,689, 100 basesExon 12: 25,955,627–25,955,755, 129 basesExon 11: 25,975,070–25,975,228, 159 basesExon 10: 25,975,954–25,976,028, 75 basesExon 9: 25,982,344–25,982,477, 134 basesExon 8: 25,997,360–25,997,416, 57 basesExon 7: 26,000,015–26,000,182, 168 basesExon 6: 26,021,840–26,022,042, 203 basesExon 5: 26,051,000–26,051,193, 194 basesExon 4: 26,053,236–26,053,348, 113 basesExon 3: 26,089,943–26,090,072, 130 basesExon 2: 26,111,979–26,112,146, 168 basesExon 1: 26,170,564–26,170,770, 207 bases1816141210864215′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 3.6 kb of the gene's 290.2 kb; 2,313 of those bases code for the protein.

How a genome test reads APP

16

positions in APP 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 290.2 kb of APP, introns included, not only the 3.6 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.). APP gene: amyloid beta precursor protein. Retrieved 16 October 2026, from https://dantelabs.com/genes/app

Vancouver

Dante Labs. APP gene: amyloid beta precursor protein [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/app

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