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The protein encoded by this gene is a subunit of the vacuolar ATPase (v-ATPase), an heteromultimeric enzyme that is present in intracellular vesicles and in the plasma membrane of specialized cells, and which is essential for the acidification of diverse cellular components. V-ATPase is comprised of a membrane peripheral V(1) domain for ATP hydrolysis, and an integral membrane V(0) domain for proton translocation. The subunit encoded by this gene is a component of the V(0) domain. Mutations in this gene are a cause of both cutis laxa type II and wrinkly skin syndrome. [provided by RefSeq, Jul 2009]
ATP6V0A2 (ATPase H+ Transporting V0 Subunit A2) is a Protein Coding gene. Diseases associated with ATP6V0A2 include Wrinkly Skin Syndrome and Cutis Laxa, Autosomal Recessive, Type Iia. Among its related pathways are Signaling by GPCR and Insulin receptor recycling. Gene Ontology (GO) annotations related to this gene include ATPase binding and proton-transporting ATPase activity, rotational mechanism. An important paralog of this gene is ATP6V0A1.
H+-ATPase (also known as vacuolar ATPase, V-ATPase) is a enzyme transporter that functions to acidify intracellular compartments in eukaryotic cells. It is ubiquitously expressed and is present in endomembrane organelles such as vacuoles, lysosomes and endosomes.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 16415858 |
GO:0015078 | proton transmembrane transporter activity | IEA | -- |
GO:0046961 | proton-transporting ATPase activity, rotational mechanism | IBA | 21873635 |
GO:0051117 | ATPase binding | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000220 | vacuolar proton-transporting V-type ATPase, V0 domain | IEA | -- |
GO:0001669 | acrosomal vesicle | IEA | -- |
GO:0005765 | lysosomal membrane | HDA | 17897319 |
GO:0005768 | endosome | IEA | -- |
GO:0005886 | plasma membrane | IBA | 21873635 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Insulin receptor recycling | ||
2 | Innate Immune System |
.61
|
|
3 | PI3K-Akt signaling pathway | ||
4 | Lysosome |
-
|
|
5 | Metabolism |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006811 | ion transport | IEA | -- |
GO:0006879 | cellular iron ion homeostasis | IMP | 28296633 |
GO:0006955 | immune response | TAS | 2247090 |
GO:0007035 | vacuolar acidification | IBA | 21873635 |
GO:0008286 | insulin receptor signaling pathway | TAS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
tiludronate | Approved, Investigational, Vet_approved | Pharma | Target, inhibitor | 2 | ||
Water | Approved | Pharma | 0 | |||
Phosphate | Experimental | Pharma | 0 | |||
Bafilomycin A1 | Experimental | Pharma | V-ATPase inhibitor,selective and reversible, H+-ATPase (vacuolar) inhibitor | 0 | ||
Concanamycin A | Experimental | Pharma | V-type (vacuolar) H+-ATPase inhibitor, H+-ATPase (vacuolar) inhibitor | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
ADP |
|
58-64-0 |
|
Compound | Action | Cas Number |
---|---|---|
Bafilomycin A1 | H+-ATPase (vacuolar) inhibitor | 88899-55-2 |
Concanamycin A | H+-ATPase (vacuolar) inhibitor | 80890-47-7 |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19a | · | 19b | · | 19c | ^ | 20 | ^ | 21 | ^ | 22 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP2: | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ATP6V0A2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ATP6V0A2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ATP6V0A2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Atp6v0a2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Atp6v0a2 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | ATP6V0A2 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | ATP6V0A2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | ATP6V0A2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ATP6V0A2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | atp6v0a2 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | atp6v0a2a 31 |
|
OneToMany | |
atp6v0a2b 30 31 |
|
OneToMany | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | Vha100-2 31 32 |
|
ManyToMany | |
Vha100-1 31 |
|
ManyToMany | |||
Vha100-5 31 |
|
ManyToMany | |||
Vha100-4 31 |
|
ManyToMany | |||
CG7678 32 |
|
|
|||
Vha100-3 31 |
|
ManyToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | unc-32 31 |
|
ManyToMany | |
vha-6 31 |
|
ManyToMany | |||
vha-5 31 32 |
|
ManyToMany | |||
vha-7 31 32 |
|
ManyToMany | |||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | VPH1 31 |
|
ManyToMany | |
STV1 31 |
|
ManyToMany | |||
Soybean (Glycine max) |
eudicotyledons | Gma.12518 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
78884 | Uncertain Significance: Cutis laxa with osteodystrophy | 123,727,864(+) |
C/T NM_012463.4(ATP6V0A2):c.603C>T (p.Ile201=) |
SYNONYMOUS | |
840755 | Pathogenic: ALG9 congenital disorder of glycosylation | 123,743,804(+) |
T/TC NM_012463.4(ATP6V0A2):c.1062dup (p.Ser355fs) |
FRAMESHIFT | |
859353 | Uncertain Significance: ALG9 congenital disorder of glycosylation | 123,758,015(+) |
G/A NM_012463.4(ATP6V0A2):c.2554G>A (p.Asp852Asn) |
MISSENSE | |
863749 | Uncertain Significance: ALG9 congenital disorder of glycosylation | 123,733,929(+) |
G/C NM_012463.4(ATP6V0A2):c.652G>C (p.Glu218Gln) |
MISSENSE | |
871742 | Uncertain Significance: not provided | 123,712,630(+) |
C/T NM_012463.4(ATP6V0A2):c.65C>T (p.Ala22Val) |
MISSENSE |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv309e214 | CNV | gain | 21293372 |
esv1436194 | CNV | insertion | 17803354 |
esv2274657 | CNV | deletion | 18987734 |
esv2619454 | CNV | insertion | 19546169 |
esv2746510 | CNV | deletion | 23290073 |
esv2746511 | CNV | deletion | 23290073 |
esv2746512 | CNV | deletion | 23290073 |
esv3332718 | CNV | insertion | 20981092 |
esv3549924 | CNV | deletion | 23714750 |
esv993337 | CNV | deletion | 20482838 |
nsv1152914 | CNV | deletion | 26484159 |
nsv832534 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
wrinkly skin syndrome |
|
|
cutis laxa, autosomal recessive, type iia |
|
|
atp6v0a2-related cutis laxa |
|
|
autosomal recessive cutis laxa type ii classic type |
|
|
geroderma osteodysplasticum |
|