Skip to content
Use your HSA or FSA funds

Gene

ATP13A3

ATPase 13A3

Summary

Cytogenetic location
3q29
Coordinates
Chromosome 3: 194,402,677–194,487,002 (GRCh38)
Exons
34 exons across 84.3 kb
Protein
1,256 amino acids
Also known as
AFURS1
MANE Select transcript
ENST00000645319.2NM_001367549.1
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

  • Heritable Pulmonary Arterial Hypertension (HPAH)

    • Heritable Pulmonary Arterial Hypertension

      Heritable pulmonary arterial hypertension (HPAH) is a form of pulmonary arterial hypertension (PAH), occurring due to mutations in PAH predisposing genes or in a familial context. HPAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. HPAH is progressive and potentially fatal.

      • 1 GenCC submitter rates it definitive or strong

How ATP13A3 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 3, with a bracket where ATP13A3 sits. ATP13A3 and 7 genes near it on chromosome 3, from 193,944,840 to 194,944,839.Chromosome 33q29p26.3p26.2p26.1p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13.11q13.12q13.13q13.2q13.31q13.32q13.33q21.1q21.2q21.3q22.1q22.2q22.3q23q24q25.1q25.2q25.31q25.32q25.33q26.1q26.2q26.31q26.32q26.33q27.1q27.2q27.3q28q29194 Mb194.2 Mb194.4 Mb194.6 Mb194.8 MbHES1: 194,136,139–194,138,732, forward strandHES1CPN2: 194,339,630–194,351,401, reverse strandCPN2LRRC15: 194,355,249–194,369,743, reverse strandLRRC15GP5: 194,394,821–194,399,266, reverse strandGP5ATP13A3: 194,402,677–194,487,002, reverse strandATP13A3TMEM44: 194,587,673–194,633,689, reverse strandTMEM44LSG1: 194,640,788–194,672,463, reverse strandLSG1FAM43A: 194,685,883–194,689,037, forward strandFAM43ADiagram of ATP13A3: 34 exons on the reverse strand of chromosome 3Exon 34: 1 known disease-causing siteExon 29: 1 known disease-causing siteExon 24: 2 known disease-causing sitesExon 21: 1 known disease-causing siteExon 34: 194,402,677–194,406,116, 3,440 basesExon 33: 194,412,199–194,412,288, 90 basesExon 32: 194,413,759–194,413,839, 81 basesExon 31: 194,419,879–194,419,967, 89 basesExon 30: 194,425,342–194,425,529, 188 basesExon 29: 194,427,075–194,427,252, 178 basesExon 28: 194,428,845–194,428,917, 73 basesExon 27: 194,429,678–194,429,774, 97 basesExon 26: 194,430,072–194,430,181, 110 basesExon 25: 194,430,273–194,430,315, 43 basesExon 24: 194,430,943–194,431,022, 80 basesExon 23: 194,431,104–194,431,226, 123 basesExon 22: 194,431,717–194,431,892, 176 basesExon 21: 194,433,772–194,433,896, 125 basesExon 20: 194,437,095–194,437,215, 121 basesExon 19: 194,437,311–194,437,464, 154 basesExon 18: 194,437,556–194,437,573, 18 basesExon 17: 194,438,856–194,438,972, 117 basesExon 16: 194,441,311–194,441,461, 151 basesExon 15: 194,444,725–194,444,786, 62 basesExon 14: 194,446,927–194,447,115, 189 basesExon 13: 194,447,852–194,448,009, 158 basesExon 12: 194,448,457–194,448,636, 180 basesExon 11: 194,450,145–194,450,276, 132 basesExon 10: 194,453,706–194,453,778, 73 basesExon 9: 194,454,258–194,454,392, 135 basesExon 8: 194,455,893–194,455,962, 70 basesExon 7: 194,457,094–194,457,174, 81 basesExon 6: 194,459,471–194,459,541, 71 basesExon 5: 194,459,789–194,459,971, 183 basesExon 4: 194,460,658–194,460,831, 174 basesExon 3: 194,462,140–194,462,236, 97 basesExon 2: 194,485,794–194,485,835, 42 basesExon 1: 194,486,566–194,487,002, 437 bases343025201510515′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 7.5 kb of the gene's 84.3 kb; 3,771 of those bases code for the protein.

How a genome test reads ATP13A3

5

positions in ATP13A3 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 84.3 kb of ATP13A3, introns included, not only the 7.5 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.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). ATP13A3 gene: ATPase 13A3. Retrieved 17 October 2026, from https://dantelabs.com/genes/atp13a3

Vancouver

Dante Labs. ATP13A3 gene: ATPase 13A3 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/atp13a3

One test. A lifetime of answers.

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

Get my Genome Test