Skip to content
Use your HSA or FSA funds

Gene

ATP6V0A2

ATPase H+ transporting V0 subunit a2

Summary

Cytogenetic location
12q24.31
Coordinates
Chromosome 12: 123,712,353–123,761,755 (GRCh38)
Exons
20 exons across 49.4 kb
Protein
856 amino acids
Also known as
TJ6, a2, TJ6s, TJ6M, ATP6a2, J6B7, ATP6N1D, Vph1, Stv1, a2V, RTF
MANE Select transcript
ENST00000330342.8NM_012463.4
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

  • 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.

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

  • Osteogenesis Imperfecta

    • A group of inherited connective tissue disorders causing fragile bones that break easily, often with blue sclerae, hearing loss and dental problems.

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

      Cyclic IV bisphosphonates (pamidronate, zoledronate); orthopedic rodding of long bones; physical therapy; denosumab (in clinical use for pediatric OI); romosozumab (in development); hearing monitoring; dental management for dentinogenesis imperfecta

Broader groupings

  • Congenital Disorders of Glycosylation

    • Congenital Disorders of Glycosylation (CDG)

      One of 98 genes linked to it

      A large group of inherited conditions in which sugar chains (glycans) are not correctly built or attached to proteins and lipids, often affecting the brain, liver, blood clotting, growth and many other body systems. Most are autosomal recessive, but some are X-linked or autosomal dominant.

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

How ATP6V0A2 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 ATP6V0A2 sits. ATP6V0A2 and 17 genes near it on chromosome 12, from 123,237,054 to 124,237,053.Chromosome 1212q24.31p13.33p13.32p13.31p13.2p13.1p12.3p12.2p12.1p11.23p11.22p11.21p11.1q11q12q13.11q13.12q13.13q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.31q24.32q24.33123.4 Mb123.6 Mb123.8 Mb124 Mb124.2 MbMPHOSPH9: 123,152,320–123,244,014, reverse strandMPHOSPH9MTRFR: 123,232,142–123,258,079, forward strandMTRFRCDK2AP1: 123,250,112–123,272,334, reverse strandCDK2AP1SBNO1: 123,289,109–123,365,220, reverse strandSBNO1KMT5A: 123,384,087–123,409,353, forward strandKMT5ARILPL2: 123,409,258–123,436,756, reverse strandRILPL2SNRNP35: 123,458,078–123,473,154, forward strandSNRNP35RILPL1: 123,467,802–123,534,417, reverse strandRILPL1TMED2: 123,584,514–123,598,582, forward strandTMED2DDX55: 123,602,073–123,620,943, forward strandDDX55EIF2B1: 123,620,406–123,633,766, reverse strandEIF2B1GTF2H3: 123,633,739–123,662,604, forward strandGTF2H3TCTN2: 123,671,110–123,708,403, forward strandTCTN2ATP6V0A2: 123,712,353–123,761,755, forward strandATP6V0A2DNAH10: 123,761,878–123,935,720, forward strandDNAH10CCDC92: 123,918,660–123,974,253, reverse strandCCDC92ZNF664: 123,971,745–124,015,445, forward strandZNF664RFLNA: 123,973,241–124,316,024, forward strandRFLNADiagram of ATP6V0A2: 20 exons on the forward strand of chromosome 12Exon 1: 3 known disease-causing sitesExon 2: 3 known disease-causing sitesExon 3: 1 known disease-causing siteExon 4: 1 known disease-causing siteExon 6: 2 known disease-causing sitesExon 7: 1 known disease-causing siteExon 9: 1 known disease-causing siteExon 10: 2 known disease-causing sitesExon 11: 1 known disease-causing siteExon 12: 2 known disease-causing sitesExon 13: 1 known disease-causing siteExon 15: 1 known disease-causing siteExon 17: 2 known disease-causing sitesExon 19: 2 known disease-causing sitesExon 1: 123,712,353–123,712,682, 330 basesExon 2: 123,718,623–123,718,701, 79 basesExon 3: 123,722,351–123,722,448, 98 basesExon 4: 123,724,654–123,724,791, 138 basesExon 5: 123,726,197–123,726,285, 89 basesExon 6: 123,727,783–123,727,909, 127 basesExon 7: 123,733,926–123,734,008, 83 basesExon 8: 123,735,531–123,735,624, 94 basesExon 9: 123,737,059–123,737,271, 213 basesExon 10: 123,743,785–123,743,935, 151 basesExon 11: 123,744,201–123,744,337, 137 basesExon 12: 123,744,597–123,744,784, 188 basesExon 13: 123,744,882–123,744,972, 91 basesExon 14: 123,747,607–123,747,725, 119 basesExon 15: 123,748,575–123,748,785, 211 basesExon 16: 123,751,110–123,751,229, 120 basesExon 17: 123,752,283–123,752,402, 120 basesExon 18: 123,754,420–123,754,537, 118 basesExon 19: 123,756,815–123,756,986, 172 basesExon 20: 123,757,927–123,761,755, 3,829 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 6.5 kb of the gene's 49.4 kb; 2,571 of those bases code for the protein.

How a genome test reads ATP6V0A2

27

positions in ATP6V0A2 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 49.4 kb of ATP6V0A2, introns included, not only the 6.5 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.). ATP6V0A2 gene: ATPase H+ transporting V0 subunit a2. Retrieved 16 October 2026, from https://dantelabs.com/genes/atp6v0a2

Vancouver

Dante Labs. ATP6V0A2 gene: ATPase H+ transporting V0 subunit a2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/atp6v0a2

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test