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Gene

ATP2A2

ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2

Summary

Cytogenetic location
12q24.11
Coordinates
Chromosome 12: 110,281,247–110,351,093 (GRCh38)
Exons
20 exons across 69.8 kb
Protein
1,042 amino acids
Inheritance
Autosomal dominant
Also known as
SERCA2
Previous symbols
ATP2B, DAR
MANE Select transcript
ENST00000539276.7NM_170665.4
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

  • Darier and Hailey-Hailey Disease

    • Darier diseaseAutosomal dominant

      An ATP2A2 disorder causing greasy, crusted papules on the chest, back and scalp, with nail changes.

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

      Avoiding heat, sunlight and friction, and treating infections early, reduces flares; it has also been associated with mood disorders, which is useful for clinicians to know.

    • Acrokeratosis verruciformisAutosomal dominant

      Flat, wart-like papules on the backs of the hands and feet, related to Darier disease.

      • 3 GenCC submitters rate it definitive or strong

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 ATP2A2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 12, with a bracket where ATP2A2 sits. ATP2A2 and 17 genes near it on chromosome 12, from 109,816,170 to 110,816,169.Chromosome 1212q24.11p13.33p13.32p13.31p13.2p13.1p12.3p12.2p12.1p11.23p11.22p11.21p11.1q11q12q13.11q13.12q13.13q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.31q24.32q24.33110 Mb110.2 Mb110.4 Mb110.6 Mb110.8 MbTRPV4: 109,783,087–109,833,542, reverse strandTRPV4GLTP: 109,850,943–109,880,549, reverse strandGLTPTCHP: 109,900,264–109,983,841, forward strandTCHPGIT2: 109,929,792–109,996,389, reverse strandGIT2ANKRD13A: 109,999,186–110,039,763, forward strandANKRD13AC12orf76: 110,020,353–110,073,636, reverse strandC12orf76IFT81: 110,124,314–110,218,795, forward strandIFT81ATP2A2: 110,281,247–110,351,093, forward strandATP2A2ANAPC7: 110,372,506–110,403,740, reverse strandANAPC7ARPC3: 110,434,436–110,450,422, reverse strandARPC3GPN3: 110,452,473–110,469,268, reverse strandGPN3FAM216A: 110,468,405–110,492,196, forward strandFAM216AVPS29: 110,469,903–110,502,132, reverse strandVPS29RAD9B: 110,501,479–110,533,556, forward strandRAD9BPPTC7: 110,533,245–110,583,383, reverse strandPPTC7TCTN1: 110,614,027–110,663,587, forward strandTCTN1HVCN1: 110,627,836–110,704,950, reverse strandHVCN1PPP1CC: 110,708,366–110,742,939, reverse strandPPP1CCDiagram of ATP2A2: 20 exons on the forward strand of chromosome 12Exon 8: 3 known disease-causing sitesExon 14: 1 known disease-causing siteExon 15: 2 known disease-causing sitesExon 16: 1 known disease-causing siteExon 18: 1 known disease-causing siteExon 19: 1 known disease-causing siteExon 1: 110,281,247–110,281,907, 661 basesExon 2: 110,282,604–110,282,621, 18 basesExon 3: 110,282,713–110,282,795, 83 basesExon 4: 110,292,020–110,292,124, 105 basesExon 5: 110,296,599–110,296,737, 139 basesExon 6: 110,322,992–110,323,072, 81 basesExon 7: 110,326,390–110,326,475, 86 basesExon 8: 110,327,553–110,328,017, 465 basesExon 9: 110,332,597–110,332,685, 89 basesExon 10: 110,333,181–110,333,283, 103 basesExon 11: 110,334,012–110,334,143, 132 basesExon 12: 110,339,281–110,339,403, 123 basesExon 13: 110,339,503–110,339,721, 219 basesExon 14: 110,340,659–110,340,994, 336 basesExon 15: 110,342,228–110,342,448, 221 basesExon 16: 110,343,232–110,343,434, 203 basesExon 17: 110,344,886–110,344,971, 86 basesExon 18: 110,345,249–110,345,382, 134 basesExon 19: 110,346,001–110,346,118, 118 basesExon 20: 110,346,201–110,351,093, 4,893 bases151015205′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 8.3 kb of the gene's 69.8 kb; 3,129 of those bases code for the protein.

How a genome test reads ATP2A2

10

positions in ATP2A2 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 69.8 kb of ATP2A2, introns included, not only the 8.3 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.). ATP2A2 gene: ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/atp2a2

Vancouver

Dante Labs. ATP2A2 gene: ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/atp2a2

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