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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ATP6V1C2
ATPase H+ transporting V1 subunit C2
Chromosome 2 Β· 2p25.1
NCBI Gene: 245973Ensembl: ENSG00000143882.12HGNC: HGNC:18264UniProt: A0A0U1RR16
33PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
extracellular exosomepositive regulation of Wnt signaling pathwayidentical protein bindinglysosomal membranemultiple sclerosisdistal renal tubular acidosismathematical abilityprostate carcinoma
✦AI Summary

ATP6V1C2 encodes a subunit of the V1 complex of vacuolar H+-ATPase (V-ATPase), a multisubunit enzyme responsible for acidifying intracellular compartments and maintaining cellular pH homeostasis. The protein is essential for proper V-ATPase assembly and catalytic activity 1. ATP6V1C2 shows tissue-specific expression, being localized in ciliated cells and club cells of bronchial epithelium in yaks, where it may contribute to high-altitude adaptation 2. In renal physiology, ATP6V1C2 plays a critical role in distal tubular acidification, as loss-of-function mutations cause recessive distal renal tubular acidosis, a rare disorder characterized by hyperchloremic metabolic acidosis and impaired urinary acidification 13. The gene has emerged as a prognostic biomarker in colorectal cancer, where overexpression correlates with poor prognosis, reduced immune infiltration (particularly CD8+ T cells), and clinicopathological progression 4. ATP6V1C2 is also implicated in cancer biology through succinylation-related molecular activities and has been identified as part of prognostic signatures in colorectal cancer 5. Additionally, the gene shows potential as a therapeutic target, with molecular docking studies suggesting sensitivity to specific natural compounds 4.

Sources cited
1
ATP6V1C2 mutations cause recessive distal renal tubular acidosis and loss-of-function was confirmed through yeast growth assays
PMID: 31959358
2
ATP6V1C2 is localized in ciliated cells and club cells of bronchial epithelium and may contribute to high-altitude adaptation in yaks
PMID: 36980869
3
ATP6V1C2 is overexpressed in colorectal cancer, correlates with poor prognosis and reduced immune infiltration, particularly CD8+ T cells
PMID: 38772116
4
Inactivating mutations in ATP6V1C2 impair renal proton pump function and cause distal tubular acidosis
PMID: 32087886
5
ATP6V1C2 is part of a succinylation-related prognostic model in colorectal cancer
PMID: 40463370
Disease Associationsβ“˜20
multiple sclerosisOpen Targets
0.32Weak
distal renal tubular acidosisOpen Targets
0.26Weak
mathematical abilityOpen Targets
0.10Weak
prostate carcinomaOpen Targets
0.10Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.07Suggestive
severe acute respiratory syndromeOpen Targets
0.06Suggestive
prostate cancerOpen Targets
0.06Suggestive
COVID-19Open Targets
0.04Suggestive
esophageal squamous cell carcinomaOpen Targets
0.03Suggestive
clear cell renal carcinomaOpen Targets
0.03Suggestive
spondylolisthesisOpen Targets
0.03Suggestive
benign digestive system neoplasmOpen Targets
0.02Suggestive
hemangioma of subcutaneous tissueOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.02Suggestive
breast cancerOpen Targets
0.02Suggestive
esophageal adenocarcinomaOpen Targets
0.01Suggestive
gliomaOpen Targets
0.01Suggestive
rosaceaOpen Targets
0.01Suggestive
colorectal carcinomaOpen Targets
0.01Suggestive
colorectal cancerOpen Targets
0.01Suggestive
Pathogenic Variants1
NM_001039362.2(ATP6V1C2):c.503T>C (p.Ile168Thr)Likely pathogenic
Distal renal tubular acidosis
β˜†β˜†β˜†β˜†2019β†’ Residue 168
View on ClinVar β†—
Related Genes
ATP6V1AProtein interaction100%ATP6V1B1Protein interaction100%ATP6V1B2Protein interaction100%ATP6V0CProtein interaction100%ATP6V0BProtein interaction100%ATP6V0A1Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
58%
Ovary
35%
Lung
29%
Heart
12%
Brain
9%
Gene Interaction Network
Click a node to explore
ATP6V1C2ATP6V1AATP6V1B1ATP6V1B2ATP6V0CATP6V0BATP6V0A1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q8NEY4
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.01LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.78 [0.60–1.01]
RankingsWhere ATP6V1C2 stands among ~20K protein-coding genes
  • #11,290of 20,598
    Most Researched33
  • #5,233of 5,498
    Most Pathogenic Variants1
  • #9,867of 17,882
    Most Constrained (LOEUF)1.01
Genes detectedATP6V1C2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Distribution and Expression of Pulmonary Ionocyte-Related Factors CFTR, ATP6V0D2, and ATP6V1C2 in the Lungs of Yaks at Different Ages.
PMID: 36980869
Genes (Basel) Β· 2023
1.00
2
Succinylation-related molecular activities in cancer: metabolic adaptations, immune landscape, and prognostic significance in colorectal cancer.
PMID: 40463370
Front Immunol Β· 2025
0.90
3
Neutrophil-derived serine proteases induce FOXA2-mediated autophagy dysfunction and exacerbate colitis-associated carcinogenesis via protease activated receptor 2.
PMID: 40205686
Autophagy Β· 2025
0.80
4
Comprehensive analysis of ATP6V1s family member, ATP6V1C2, with prognostic and drug development values in colorectal cancer.
PMID: 38772116
Pathol Res Pract Β· 2024
0.70
5
Whole exome sequencing identified ATP6V1C2 as a novel candidate gene for recessive distal renal tubular acidosis.
PMID: 31959358
Kidney Int Β· 2020
0.60