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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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ATP6V0A2
ATPase H+ transporting V0 subunit a2
Chromosome 12 Β· 12q24.31
NCBI Gene: 23545Ensembl: ENSG00000185344.16HGNC: HGNC:18481UniProt: Q9Y487
91PubMed Papers
22Diseases
0Drugs
73Pathogenic Variants
FUNCTIONAL ROLE
Transporter
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
lysosomal membraneplasma membraneprotein bindingcellular response to increased oxygen levelswrinkly skin syndromeautosomal recessive cutis laxa type 2AALG9-congenital disorder of glycosylationcutis laxa
✦AI Summary

ATP6V0A2 encodes the V0a2 subunit of vacuolar H+-ATPase (V-ATPase), a multisubunit proton pump essential for acidifying intracellular compartments 1. As an integral membrane component of the V0 domain, ATP6V0A2 functions in proton translocation across vesicular membranes, maintaining pH homeostasis in the trans-Golgi network, endosomes, and lysosomes 1. Loss of ATP6V0A2 function elevates trans-Golgi pH from normal (5.80) to 6.25-6.52, disrupting protein glycosylation maturation, particularly O-glycosylation and sialylation 1. ATP6V0A2 also regulates endosomal pH-sensing machinery and supports autophagy through proper vesicular acidification 2. Pathogenic variants in ATP6V0A2 cause autosomal recessive cutis laxa type 2A (ARCL2A), characterized by wrinkled, sagging skin, facial dysmorphisms, delayed anterior fontanelle closure, and developmental delays 34. Additionally, ATP6V0A2 mutations cause wrinkly skin syndrome (WSS), with glycosylation defects, impaired cortical neuron migration, and previously unrecognized male infertility due to globozoospermia and defective acrosome formation 1. Senescence-associated downregulation of ATP6V0A2 triggers Golgi dispersion and altered glycosylation patterns characteristic of cellular aging 5. ATP6V0A2 dysfunction represents a metabolic form of cutis laxa involving aberrant protein glycosylation and trafficking 6.

Sources cited
1
ATP6V0A2 encodes V0a2 subunit of V-ATPase; loss-of-function causes trans-Golgi pH elevation, impaired glycosylation, globozoospermia, and wrinkly skin syndrome phenotype
PMID: 39680136
2
V-ATPase a subunits including ATP6V0A2 function in phagosomal/endosomal acidification and autophagy regulation
PMID: 38873931
3
Biallelic variants in ATP6V0A2 cause autosomal recessive cutis laxa type 2A with sagging loose skin, wrinkles, and dysmorphic features
PMID: 37119015
4
ATP6V0A2 gene variants cause ARCL with cutis laxa (100%), facial dysmorphism (78.7%), and delayed anterior fontanelle closure (65.3%)
PMID: 36184099
5
Impaired ATP6V0A2 expression in senescence disperses Golgi structure and triggers altered glycosylation patterns
PMID: 26611489
6
ATP6V0A2 mutations represent a metabolic form of cutis laxa involving defects in glycosylation and extracellular matrix protein synthesis
PMID: 21431621
Disease Associationsβ“˜22
wrinkly skin syndromeOpen Targets
0.78Strong
autosomal recessive cutis laxa type 2AOpen Targets
0.76Strong
ALG9-congenital disorder of glycosylationOpen Targets
0.55Moderate
cutis laxaOpen Targets
0.44Moderate
autosomal recessive cutis laxa type 2, classic typeOpen Targets
0.37Weak
genetic disorderOpen Targets
0.34Weak
Alzheimer diseaseOpen Targets
0.31Weak
cancerOpen Targets
0.03Suggestive
neoplasmOpen Targets
0.02Suggestive
hepatocellular carcinomaOpen Targets
0.02Suggestive
achalasia-alacrima syndromeOpen Targets
0.02Suggestive
triple-negative breast cancerOpen Targets
0.02Suggestive
depressive disorderOpen Targets
0.02Suggestive
Epidermal Inclusion CystOpen Targets
0.02Suggestive
systemic sclerodermaOpen Targets
0.02Suggestive
interstitial lung diseaseOpen Targets
0.02Suggestive
glioblastomaOpen Targets
0.01Suggestive
venous thromboembolismOpen Targets
0.01Suggestive
breast cancerOpen Targets
0.01Suggestive
inflammatory bowel diseaseOpen Targets
0.01Suggestive
Cutis laxa, autosomal recessive, 2AUniProt
Wrinkly skin syndromeUniProt
Pathogenic Variants73
NM_012463.4(ATP6V0A2):c.1724+2T>CLikely pathogenic
Wrinkly skin syndrome;Cutis laxa with osteodystrophy|ALG9 congenital disorder of glycosylation
β˜…β˜…β˜†β˜†2026
NM_012463.4(ATP6V0A2):c.390_397dup (p.Arg133delinsThrCysTer)Pathogenic
ALG9 congenital disorder of glycosylation|Cutis laxa with osteodystrophy;Wrinkly skin syndrome
β˜…β˜…β˜†β˜†2026β†’ Residue 133
NM_012463.4(ATP6V0A2):c.1514+1G>APathogenic
not provided|Wrinkly skin syndrome;Cutis laxa with osteodystrophy|ALG9 congenital disorder of glycosylation
β˜…β˜…β˜†β˜†2025
NM_012463.4(ATP6V0A2):c.208C>T (p.Gln70Ter)Pathogenic
Wrinkly skin syndrome;Cutis laxa with osteodystrophy|ALG9 congenital disorder of glycosylation
β˜…β˜…β˜†β˜†2025β†’ Residue 70
NM_012463.4(ATP6V0A2):c.78dup (p.Ser27fs)Pathogenic
not provided|ALG9 congenital disorder of glycosylation|Cutis laxa|Wrinkly skin syndrome;Cutis laxa with osteodystrophy
β˜…β˜…β˜†β˜†2025β†’ Residue 27
NM_012463.4(ATP6V0A2):c.2293C>T (p.Gln765Ter)Pathogenic
Cutis laxa with osteodystrophy|ALG9 congenital disorder of glycosylation|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 765
NM_012463.4(ATP6V0A2):c.304C>T (p.Gln102Ter)Pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 102
NM_012463.4(ATP6V0A2):c.187C>T (p.Arg63Ter)Pathogenic
Cutis laxa with osteodystrophy|not provided|Cutis laxa|ALG9 congenital disorder of glycosylation|Cutis laxa with osteodystrophy;Wrinkly skin syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 63
NM_012463.4(ATP6V0A2):c.1189G>C (p.Ala397Pro)Likely pathogenic
ALG9 congenital disorder of glycosylation|Cutis laxa with osteodystrophy;Wrinkly skin syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 397
NM_012463.4(ATP6V0A2):c.130del (p.Asn43_Val44insTer)Pathogenic
Wrinkly skin syndrome;Cutis laxa with osteodystrophy|ALG9 congenital disorder of glycosylation
β˜…β˜…β˜†β˜†2024β†’ Residue 43
NM_012463.4(ATP6V0A2):c.117+1delLikely pathogenic
ALG9 congenital disorder of glycosylation|Cutis laxa with osteodystrophy;Wrinkly skin syndrome
β˜…β˜…β˜†β˜†2024
NM_012463.4(ATP6V0A2):c.732-2A>GPathogenic
Cutis laxa with osteodystrophy|not provided|ALG9 congenital disorder of glycosylation
β˜…β˜…β˜†β˜†2023
NM_012463.4(ATP6V0A2):c.2293+1G>ALikely pathogenic
not provided|ALG9 congenital disorder of glycosylation
β˜…β˜…β˜†β˜†2023
NM_012463.4(ATP6V0A2):c.1324G>T (p.Glu442Ter)Pathogenic
Cutis laxa with osteodystrophy|ALG9 congenital disorder of glycosylation
β˜…β˜†β˜†β˜†2026β†’ Residue 442
NM_012463.4(ATP6V0A2):c.2231_2255dup (p.Tyr753fs)Pathogenic
Cutis laxa with osteodystrophy|ALG9 congenital disorder of glycosylation
β˜…β˜†β˜†β˜†2026β†’ Residue 753
NM_012463.4(ATP6V0A2):c.2313G>A (p.Trp771Ter)Pathogenic
ALG9 congenital disorder of glycosylation
β˜…β˜†β˜†β˜†2026β†’ Residue 771
NM_012463.4(ATP6V0A2):c.924dup (p.Tyr309fs)Pathogenic
ALG9 congenital disorder of glycosylation
β˜…β˜†β˜†β˜†2025β†’ Residue 309
NM_012463.4(ATP6V0A2):c.877G>T (p.Glu293Ter)Pathogenic
ALG9 congenital disorder of glycosylation
β˜…β˜†β˜†β˜†2025β†’ Residue 293
NM_012463.4(ATP6V0A2):c.2466-2A>GLikely pathogenic
Acute myeloid leukemia|ALG9 congenital disorder of glycosylation
β˜…β˜†β˜†β˜†2025
NM_012463.4(ATP6V0A2):c.581dup (p.Val195fs)Pathogenic
ALG9 congenital disorder of glycosylation
β˜…β˜†β˜†β˜†2025β†’ Residue 195
View on ClinVar β†—
Related Genes
ATP6V1E2Protein interaction100%ATP6V0A4Protein interaction100%ATP6V1C2Protein interaction100%RNASEKProtein interaction100%ATP12AProtein interaction100%ATP4AProtein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
86%
Heart
66%
Brain
66%
Ovary
51%
Liver
49%
Gene Interaction Network
Click a node to explore
ATP6V0A2ATP6V1E2ATP6V0A4ATP6V1C2RNASEKATP12AATP4A
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9Y487
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.60LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.46 [0.36–0.60]
RankingsWhere ATP6V0A2 stands among ~20K protein-coding genes
  • #5,233of 20,598
    Most Researched91
  • #1,010of 5,498
    Most Pathogenic Variants73 Β· top quartile
  • #4,149of 17,882
    Most Constrained (LOEUF)0.60 Β· top quartile
Genes detectedATP6V0A2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
The different roles of V-ATPase a subunits in phagocytosis/endocytosis and autophagy.
PMID: 38873931
Autophagy Β· 2024
1.00
2
Two novel homozygous variants of ATP6V0A2 and ALDH18A1 lead to autosomal recessive cutis laxa type 2 and 3 in two Pakistani families.
PMID: 37119015
J Gene Med Β· 2023
0.90
3
Golgi pH elevation due to loss of V-ATPase subunit V0a2 function correlates with tissue-specific glycosylation changes and globozoospermia.
PMID: 39680136
Cell Mol Life Sci Β· 2024
0.80
4
Impaired ATP6V0A2 expression contributes to Golgi dispersion and glycosylation changes in senescent cells.
PMID: 26611489
Sci Rep Β· 2015
0.70
5
Identification of a novel intronic variant of ATP6V0A2 in a Han-Chinese family with cutis laxa.
PMID: 38598037
Mol Biol Rep Β· 2024
0.60