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0 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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ATP5MC2
ATP synthase membrane subunit c locus 2
Chromosome 12 Β· 12q13.13
NCBI Gene: 517Ensembl: ENSG00000135390.22HGNC: HGNC:842UniProt: Q06055
28PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneTransporter
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
mitochondrionprotein bindingproton-transporting ATP synthase complexproton motive force-driven ATP synthesisAbnormality of the skeletal systembone fracturelower urinary tract calculusgout
✦AI Summary

AI summary not yet available. Showing NCBI Gene summary.

ATP synthase membrane subunit c locus 2

⚠Limited data available β€” This gene has 0 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
Abnormality of the skeletal systemOpen Targets
0.43Moderate
bone fractureOpen Targets
0.33Weak
lower urinary tract calculusOpen Targets
0.25Weak
goutOpen Targets
0.08Suggestive
Familial exudative vitreoretinopathyOpen Targets
0.07Suggestive
age-related macular degenerationOpen Targets
0.07Suggestive
retinitis pigmentosaOpen Targets
0.07Suggestive
X-linked retinal dysplasiaOpen Targets
0.06Suggestive
severe early-childhood-onset retinal dystrophyOpen Targets
0.06Suggestive
snowflake vitreoretinal degenerationOpen Targets
0.05Suggestive
coloboma of optic nerveOpen Targets
0.05Suggestive
Stargardt diseaseOpen Targets
0.05Suggestive
Coats diseaseOpen Targets
0.05Suggestive
cataract 50 with or without glaucomaOpen Targets
0.05Suggestive
adrenal gland hyperfunctionOpen Targets
0.05Suggestive
hyperaldosteronismOpen Targets
0.05Suggestive
Rare isolated myopiaOpen Targets
0.05Suggestive
early-onset non-syndromic cataractOpen Targets
0.04Suggestive
retinitis pigmentosa 84Open Targets
0.04Suggestive
retinitis pigmentosa 86Open Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
ATP5MC3Protein interaction100%ATP6V1HProtein interaction100%ATP6V1E2Protein interaction100%ATP6V0A1Protein interaction100%ATP6V0D2Protein interaction100%ATP6V0D1Protein interaction100%
Tissue Expression6 tissues
Heart
100%
Ovary
74%
Liver
62%
Lung
60%
Brain
46%
Bone Marrow
41%
Gene Interaction Network
Click a node to explore
ATP5MC2ATP5MC3ATP6V1HATP6V1E2ATP6V0A1ATP6V0D2ATP6V0D1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q06055
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.47LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.87 [0.54–1.47]
RankingsWhere ATP5MC2 stands among ~20K protein-coding genes
  • #12,305of 20,598
    Most Researched28
  • #14,993of 17,882
    Most Constrained (LOEUF)1.47
Genes detectedATP5MC2
Sources retrieved0 papers
Response timeβ€”