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Gene

ATP7A

ATPase copper transporting alpha

Summary

Cytogenetic location
Xq21.1
Coordinates
Chromosome X: 77,910,693–78,050,395 (GRCh38)
Exons
23 exons across 139.7 kb
Protein
1,500 amino acids
Previous symbols
MNK
MANE Select transcript
ENST00000341514.11NM_000052.7
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

  • Charcot-Marie-Tooth Disease

    • Distal Hereditary Motor Neuropathy

      Inherited neuropathies that mainly affect motor nerves, causing weakness and wasting of the hands and feet, including SORD-related neuropathy.

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

  • Cutis Laxa

    • Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity.

      • 3 GenCC submitters rate it definitive or strong

  • Disorder of Copper Metabolism

    • An inherited metabolic disease that is has its basis in the disruption of cellular copper ion homeostasis.

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

  • Spinal Muscular Atrophy

    • A group of disorders characterised by degeneration of spinal cord anterior horn cells, leading to progressive muscle weakness and atrophy.

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

      Gene therapy (onasemnogene abeparvovec), antisense oligonucleotide therapy (nusinersen), oral splicing modifier (risdiplam), supportive care

How ATP7A is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome X, with a bracket where ATP7A sits. ATP7A and 7 genes near it on chromosome X, from 77,480,544 to 78,480,543.Chromosome XXq21.1p22.33p22.32p22.31p22.2p22.13p22.12p22.11p21.3p21.2p21.1p11.4p11.3p11.23p11.22p11.21p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q23q24q25q26.1q26.2q26.3q27.1q27.2q27.3q2877.6 Mb77.8 Mb78 Mb78.2 Mb78.4 MbATRX: 77,504,862–77,786,233, reverse strandATRXMAGT1: 77,825,747–77,899,271, reverse strandMAGT1COX7B: 77,895,727–77,907,555, forward strandCOX7BATP7A: 77,910,693–78,050,395, forward strandATP7APGK1: 77,910,739–78,132,378, forward strandPGK1PGAM4: 77,967,949–77,969,638, reverse strandPGAM4TAF9B: 78,126,646–78,139,705, reverse strandTAF9BCYSLTR1: 78,270,496–78,327,845, reverse strandCYSLTR1Diagram of ATP7A: 23 exons on the forward strand of chromosome XExon 2: 1 known disease-causing siteExon 3: 25 known disease-causing sitesExon 4: 26 known disease-causing sitesExon 5: 12 known disease-causing sitesExon 6: 9 known disease-causing sitesExon 7: 3 known disease-causing sitesExon 8: 8 known disease-causing sitesExon 9: 13 known disease-causing sitesExon 10: 18 known disease-causing sitesExon 11: 2 known disease-causing sitesExon 12: 2 known disease-causing sitesExon 13: 6 known disease-causing sitesExon 14: 2 known disease-causing sitesExon 15: 11 known disease-causing sitesExon 16: 12 known disease-causing sitesExon 17: 7 known disease-causing sitesExon 18: 8 known disease-causing sitesExon 19: 9 known disease-causing sitesExon 20: 9 known disease-causing sitesExon 21: 6 known disease-causing sitesExon 22: 5 known disease-causing sitesExon 23: 2 known disease-causing sitesExon 1: 77,910,693–77,910,835, 143 basesExon 2: 77,971,621–77,971,761, 141 basesExon 3: 77,988,242–77,988,731, 490 basesExon 4: 77,989,233–77,989,958, 726 basesExon 5: 77,998,478–77,998,684, 207 basesExon 6: 78,003,073–78,003,236, 164 basesExon 7: 78,009,102–78,009,263, 162 basesExon 8: 78,011,176–78,011,252, 77 basesExon 9: 78,011,449–78,011,674, 226 basesExon 10: 78,012,879–78,013,112, 234 basesExon 11: 78,014,662–78,014,753, 92 basesExon 12: 78,015,754–78,015,881, 128 basesExon 13: 78,020,244–78,020,398, 155 basesExon 14: 78,020,945–78,021,079, 135 basesExon 15: 78,029,250–78,029,444, 195 basesExon 16: 78,031,400–78,031,582, 183 basesExon 17: 78,033,605–78,033,821, 217 basesExon 18: 78,038,836–78,038,982, 147 basesExon 19: 78,040,591–78,040,733, 143 basesExon 20: 78,042,585–78,042,788, 204 basesExon 21: 78,043,317–78,043,434, 118 basesExon 22: 78,045,470–78,045,572, 103 basesExon 23: 78,046,294–78,050,395, 4,102 bases15101520235′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 8.5 kb of the gene's 139.7 kb; 4,503 of those bases code for the protein.

How a genome test reads ATP7A

224

positions in ATP7A 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 139.7 kb of ATP7A, introns included, not only the 8.5 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.). ATP7A gene: ATPase copper transporting alpha. Retrieved 16 October 2026, from https://dantelabs.com/genes/atp7a

Vancouver

Dante Labs. ATP7A gene: ATPase copper transporting alpha [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/atp7a

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