ATP5MC2 — ATP synthase membrane subunit c locus 2

5 sources retrieved · Most recent: April 2026 · Index updated 5 months ago

28PubMed Papers

#12,291 · top 63% of 19K genes

20Diseases

top 66%

0Drugs

0Pathogenic Variants

TransporterExperimental GO EvidenceSwiss-Prot Reviewed

mitochondrionprotein bindingproton-transporting ATP synthase complexproton motive force-driven ATP synthesisAbnormality of the skeletal systembone fracturelower urinary tract calculusretinitis pigmentosa

AI Summary

AI summary not yet available. Showing NCBI Gene summary.

ATP synthase membrane subunit c locus 2

⚠Limited data available — This gene has 0 indexed publications. Summary and analysis may be incomplete.

Disease Associations20

Abnormality of the skeletal systemOpen Targets

0.41Moderate

bone fractureOpen Targets

0.32Weak

lower urinary tract calculusOpen Targets

0.22Weak

retinitis pigmentosaOpen Targets

0.09Suggestive

Progressive cone dystrophyOpen Targets

0.08Suggestive

Cone rod dystrophyOpen Targets

0.08Suggestive

early-onset non-syndromic cataractOpen Targets

0.08Suggestive

Familial exudative vitreoretinopathyOpen Targets

0.08Suggestive

Leber congenital amaurosisOpen Targets

0.07Suggestive

Posterior polar cataractOpen Targets

0.07Suggestive

early-onset zonular cataractOpen Targets

0.07Suggestive

achromatopsiaOpen Targets

0.07Suggestive

posterior polymorphous corneal dystrophyOpen Targets

0.07Suggestive

Partial congenital cataractOpen Targets

0.07Suggestive

Total congenital cataractOpen Targets

0.07Suggestive

adult-onset foveomacular vitelliform dystrophyOpen Targets

0.07Suggestive

ocular cystinosisOpen Targets

0.07Suggestive

Familial ocular anterior segment mesenchymal dysgenesisOpen Targets

0.07Suggestive

Peters anomalyOpen Targets

0.07Suggestive

Fuchs endothelial corneal dystrophyOpen Targets

0.07Suggestive

Pathogenic Variants

No pathogenic variants reported on ClinVar for this gene.

Tissue Expression6 tissues

Heart

100%

Ovary

74%

Liver

62%

Lung

60%

Brain

46%

Bone Marrow

41%

Gene Interaction Network6 neighbors

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StructureAlphaFold

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AlphaFoldAI-predicted · UniProt Q06055

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ConstraintgnomAD v4.1

LOEUFⓘ

1.47LoF Tolerant

pLIⓘ

0.00Tolerant

Observed/Expected LoF0.87 [0.54–1.47]

Rankings2 dim

Where ATP5MC2 stands among ~20K protein-coding genes

#12,305of 20,598
Most Researched28
#14,993of 17,882
Most Constrained (LOEUF)1.47