Tbio ATP6V0A2 V-type proton ATPase 116 kDa subunit a isoform 2

Protein Summary

Description

Part of the proton channel of V-ATPases. Essential component of the endosomal pH-sensing machinery. May play a role in maintaining the Golgi functions, such as glycosylation maturation, by controlling the Golgi pH. In aerobic conditions, involved in intracellular iron homeostasis, thus triggering the activity of Fe(2+) prolyl hydroxylase (PHD) enzymes, and leading to HIF1A hydroxylation and subsequent proteasomal degradation (PubMed:28296633). 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]

Uniprot Accession IDs

• Q9Y487
• A8K026
• Q6NUM0
• V-ATPase 116 kDa isoform a2

Gene Name

• ATP6V0A2

Ensembl ID

• ENST00000330342
• ENSP00000332247
• ENSG00000185344

Symbol

• A2
• RTF
• TJ6
• WSS
• ARCL
• J6B7
• STV1
• TJ6M
• TJ6S
• VPH1
• ARCL2A
• ATP6A2
• ATP6N1D

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
co-expressed gene	1
molecular function	0.96
kinase perturbation	0.95
virus perturbation	0.95
biological process	0.93

Protein Classes

PANTHER Classes

Protein / Transporter / Cation Transporter / Atp Synthase / V-type Proton Atpase 116 Kda Subunit A Isoform 2

Protein / Hydrolase / V-type Proton Atpase 116 Kda Subunit A Isoform 2

DTO Classes

Protein / Transporter / F-type And V-type Atpases / V-type Atpase / V-type Proton Atpase 116 Kda Subunit A Isoform 2

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 207.91   (req: < 5)

Gene RIFs: 24   (req: <= 3)

Antibodies: 103   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 207.91   (req: >= 5)

Gene RIFs: 24   (req: > 3)

Antibodies: 103   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 11

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0

Protein Sequence and Structure

Residue Counts

Protein Sequence

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Expression Data (0 Tissues)

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No expression data found

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Target Illumination GWAS Analytics (TIGA)

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GENEVA

GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.

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GlyGen

GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.

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ARCHS4

ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.

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Approved Drugs (0)

No approved drugs found

Active Ligands (0)

No active ligands found

Protein-Protein Interactions (163)

Explore Interacting Targets

1 – 10 of 163

• See Interactions on String-DB

TMEM199

Tbio

Novelty:  0.05799147

p_int:  0.999999997

p_ni:  3e-9

Score:  0.958

Data Source:  BioPlex,STRINGDB

ATP6V0D1

Tbio

Family:  Enzyme

Novelty:  0.05146108

p_int:  0.999999991

p_ni:  9e-9

Score:  0.996

Data Source:  BioPlex,STRINGDB

ATP6V0D2

Tbio

Family:  Enzyme

Novelty:  0.0354396

p_int:  0.999999968

p_ni:  3.2e-8

Score:  0.997

Data Source:  BioPlex,STRINGDB

KIAA2013

Tdark

Novelty:  0.4705158

p_int:  0.999999903

p_ni:  9.7e-8

Score:  0.844

Data Source:  BioPlex,STRINGDB

TMCC3

Tdark

Novelty:  0.67741343

p_int:  0.999999109

p_ni:  8.91e-7

Score:  0.184

Data Source:  BioPlex,STRINGDB

CLCN6

Tchem

Family:  IC

Novelty:  0.02775193

p_int:  0.99999199

p_ni:  0.000001044

p_wrong:  0.000006966

Score:  0.538

Data Source:  BioPlex,STRINGDB

ATP6AP2

Tbio

Novelty:  0.00357665

p_int:  0.999988373

p_ni:  0.000011627

Score:  0.928

Data Source:  BioPlex,STRINGDB

SPRYD7

Tdark

Novelty:  0.25334319

p_int:  0.999988248

p_ni:  0.000011746

p_wrong:  6e-9

Score:  0.179

Data Source:  BioPlex,STRINGDB

CCDC115

Tbio

Novelty:  0.23966137

p_int:  0.999940176

p_ni:  0.000059565

p_wrong:  2.59e-7

Score:  0.916

Data Source:  BioPlex,STRINGDB

ATP6V1C1

Tbio

Family:  Enzyme

Novelty:  0.03660846

p_int:  0.999890016

p_ni:  0.000109984

Score:  0.99

Data Source:  BioPlex,STRINGDB

Nearest Tclin Targets

Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.

Pathways (22)

Reactome (11)

KEGG (11)

Immune System (R-HSA-168256)

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Data Source	Name	Explore in Pharos	Explore in Source
Reactome	Immune System	2246 targets	R-HSA-168256
Reactome	Innate Immune System	1188 targets	R-HSA-168249
Reactome	Insulin receptor recycling	26 targets	R-HSA-77387
Reactome	Ion channel transport	179 targets	R-HSA-983712
Reactome	Iron uptake and transport	59 targets	R-HSA-917937

Name	Explore in Pharos	Explore in Source
Immune System	2246 targets	R-HSA-168256
Innate Immune System	1188 targets	R-HSA-168249
Insulin receptor recycling	26 targets	R-HSA-77387
Ion channel transport	179 targets	R-HSA-983712
Iron uptake and transport	59 targets	R-HSA-917937

Viral Interactions (0)

No viral interactions found

Gene Ontology Terms (19)

Functions (2)

Components (8)

Processes (9)

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1 – 2 of 2

GO Term	Evidence	Assigned by
ATPase binding	Inferred from Biological aspect of Ancestor (IBA)	GO_Central
proton-transporting ATPase activity, rotational mechanism	Inferred from Biological aspect of Ancestor (IBA)	GO_Central

Disease Associations ()

No disease associations found

GWAS Traits (15)

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GWAS Trait	EFO ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
waist-hip ratio	EFO_0004343	1	17	17		97.6
BMI-adjusted waist-hip ratio	EFO_0007788	6	19	26		97.4
waist circumference	EFO_0004342	1	14	14		94.7
BMI-adjusted waist circumference	EFO_0007789	1	15	15		94.7
adiponectin measurement	EFO_0004502	2	2	2		83.6

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GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
waist-hip ratio	EFO_0004343	17		97.6
BMI-adjusted waist-hip ratio	EFO_0007788	26		97.4
waist circumference	EFO_0004342	14		94.7
BMI-adjusted waist circumference	EFO_0007789	15		94.7
adiponectin measurement	EFO_0004502	2		83.6

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UniProt Keyword Find Similar Targets

No Header	No Header
Cell membrane
Complete proteome
Endosome
Glycoprotein
Hydrogen ion transport
Ion transport
Membrane
Phosphoprotein
Polymorphism
Reference proteome

GWAS Trait Find Similar Targets

No Header	No Header
adiponectin measurement
alkaline phosphatase measurement
apolipoprotein A 1 measurement
BMI-adjusted hip circumference
BMI-adjusted waist circumference
BMI-adjusted waist-hip ratio
high density lipoprotein cholesterol measurement
hip circumference
leukocyte count
low density lipoprotein cholesterol measurement

IDG Resources

No IDG generated resources found

Orthologs (13)

1 – 5 of 13

Species	Name	Source ID	Gene ID	OMA	EggNOG	Inparanoid
Chimp	ATPase H+ transporting V0 subunit a2	VGNC:8344	452354
Macaque	ATPase H+ transporting V0 subunit a2		710162
Mouse	ATPase, H+ transporting, lysosomal V0 subunit A2	MGI:104855	21871
Dog	ATPase H+ transporting V0 subunit a2	VGNC:38269	486245
Horse	ATPase H+ transporting V0 subunit a2	VGNC:15668	100061140

Species	Name	OMA	EggNOG	Inparanoid
Chimp	ATPase H+ transporting V0 subunit a2
Macaque	ATPase H+ transporting V0 subunit a2
Mouse	ATPase, H+ transporting, lysosomal V0 subunit A2
Dog	ATPase H+ transporting V0 subunit a2
Horse	ATPase H+ transporting V0 subunit a2

Publication Statistics

PubMed Score 207.91

PubMed score by year

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PubTator Score 780.29

PubTator score by year

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Related Publications

Text Mined References (42)

GeneRif Annotations (24)

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PMID	Year	Title