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Gene

ATPAF2

ATP synthase mitochondrial F1 complex assembly factor 2

Summary

Cytogenetic location
17p11.2
Coordinates
Chromosome 17: 18,018,021–18,039,168 (GRCh38)
Exons
8 exons across 21.1 kb
Protein
289 amino acids
Also known as
Atp12p, ATP12, LP3663, MGC29736
MANE Select transcript
ENST00000474627.8NM_145691.4
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

No Genome Test report reads ATPAF2 yet. The test sequences your whole genome, so your data includes it all the same.

How ATPAF2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 17, with a bracket where ATPAF2 sits. ATPAF2 and 17 genes near it on chromosome 17, from 17,528,595 to 18,528,594.Chromosome 1717p11.2p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.317.6 Mb17.8 Mb18 Mb18.2 Mb18.4 MbPEMT: 17,505,559–17,592,105, reverse strandPEMTRAI1: 17,681,323–17,811,453, forward strandRAI1SREBF1: 17,810,399–17,837,035, reverse strandSREBF1TOM1L2: 17,843,507–17,972,470, reverse strandTOM1L2DRC3: 17,972,813–18,016,889, forward strandDRC3ATPAF2: 18,018,021–18,039,168, reverse strandATPAF2GID4: 18,039,371–18,068,405, forward strandGID4DRG2: 18,087,876–18,107,979, forward strandDRG2MYO15A: 18,108,756–18,179,802, forward strandMYO15AALKBH5: 18,183,034–18,209,954, forward strandALKBH5LLGL1: 18,225,542–18,244,876, forward strandLLGL1FLII: 18,244,782–18,260,420, reverse strandFLIIMIEF2: 18,259,527–18,266,552, forward strandMIEF2TOP3A: 18,271,428–18,315,025, reverse strandTOP3ASMCR8: 18,315,293–18,328,056, forward strandSMCR8SHMT1: 18,327,686–18,363,562, reverse strandSHMT1EVPLL: 18,377,674–18,389,652, forward strandEVPLLLGALS9C: 18,476,737–18,494,945, forward strandLGALS9CDiagram of ATPAF2: 8 exons on the reverse strand of chromosome 17Exon 5: 1 known disease-causing siteExon 1: 1 known disease-causing siteExon 8: 18,018,021–18,018,686, 666 basesExon 7: 18,021,123–18,021,238, 116 basesExon 6: 18,021,745–18,021,857, 113 basesExon 5: 18,024,624–18,024,704, 81 basesExon 4: 18,026,319–18,026,416, 98 basesExon 3: 18,028,232–18,028,377, 146 basesExon 2: 18,028,615–18,028,659, 45 basesExon 1: 18,038,881–18,039,168, 288 bases876543215′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 1.6 kb of the gene's 21.1 kb; 870 of those bases code for the protein.

How a genome test reads ATPAF2

3

positions in ATPAF2 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 21.1 kb of ATPAF2, introns included, not only the 1.6 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.
  • 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.). ATPAF2 gene: ATP synthase mitochondrial F1 complex assembly factor 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/atpaf2

Vancouver

Dante Labs. ATPAF2 gene: ATP synthase mitochondrial F1 complex assembly factor 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/atpaf2

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