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ATPase H+ transporting V0 subunit a2

Summary

Gene Symbol

ATP6V0A2

Aliases

ATP6N1D
ATP6a2
J6B7
RTF
Stv1
TJ6
TJ6M
TJ6s
V-ATPase subunit a2
V-type proton ATPase 116 kDa subunit a2
Vph1
a2
a2V
infantile malignant osteopetrosis
regeneration and tolerance factor

Organism

Homo sapiens (human)

External Links

NCBI Gene

23545

HGNC

18481

KEGG Gene ID

hsa:23545

PubChem

23545

Alliance of Genome Resources

HGNC:18481

Annotation

Keyword

Cell membrane
Endosome
Glycoprotein
Hydrogen ion transport
Phosphoprotein
Reference proteome
Transmembrane helix

Proteins

Displaying 1 entry
UniProt	Protein Name
Q9Y487	Lysosomal H(+)-transporting ATPase V0 subunit a 2 TJ6 Vacuolar proton translocating ATPase 116 kDa subunit a isoform 2

Annotation information from UniProt.

Gene Ontology (GO)

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GO Term	Evidence Code	PMID
Golgi lumen acidification		32001091
regulation of macroautophagy		22982048
immune response		2247090
intracellular iron ion homeostasis	IMP	28296633
vacuolar acidification	IBA

GO Hierarchy

biological process

immune system process [inference]

immune response

cellular process [inference]

cellular response to stimulus [inference]

cellular response to chemical stimulus [inference]

cellular response to oxygen levels [inference]

cellular response to increased oxygen levels

transmembrane transport [inference]

monoatomic ion transmembrane transport [inference]

monoatomic cation transmembrane transport [inference]

proton transmembrane transport

inorganic ion transmembrane transport [inference]

inorganic cation transmembrane transport [inference]

proton transmembrane transport

homeostatic process [inference]

cellular homeostasis [inference]

intracellular chemical homeostasis [inference]

intracellular monoatomic ion homeostasis [inference]

intracellular monoatomic cation homeostasis [inference]

intracellular iron ion homeostasis

regulation of cellular pH [inference]

regulation of intracellular pH [inference]

intracellular pH reduction [inference]

chemical homeostasis [inference]

monoatomic ion homeostasis [inference]

intracellular monoatomic ion homeostasis [inference]

intracellular monoatomic cation homeostasis [inference]

intracellular iron ion homeostasis

regulation of cellular pH [inference]

regulation of intracellular pH [inference]

intracellular pH reduction [inference]

monoatomic cation homeostasis [inference]

regulation of pH [inference]

regulation of cellular pH [inference]

regulation of intracellular pH [inference]

intracellular pH reduction [inference]

intracellular monoatomic cation homeostasis [inference]

intracellular iron ion homeostasis

regulation of cellular pH [inference]

regulation of intracellular pH [inference]

intracellular pH reduction [inference]

intracellular chemical homeostasis [inference]

intracellular monoatomic ion homeostasis [inference]

intracellular monoatomic cation homeostasis [inference]

intracellular iron ion homeostasis

regulation of cellular pH [inference]

regulation of intracellular pH [inference]

intracellular pH reduction [inference]

inorganic ion homeostasis [inference]

intracellular iron ion homeostasis

response to stimulus [inference]

immune response

response to abiotic stimulus [inference]

response to oxygen levels [inference]

response to increased oxygen levels [inference]

cellular response to increased oxygen levels

cellular response to oxygen levels [inference]

cellular response to increased oxygen levels

response to chemical [inference]

cellular response to chemical stimulus [inference]

cellular response to oxygen levels [inference]

cellular response to increased oxygen levels

cellular response to stimulus [inference]

cellular response to chemical stimulus [inference]

cellular response to oxygen levels [inference]

cellular response to increased oxygen levels

localization [inference]

establishment of localization [inference]

transport [inference]

monoatomic ion transport [inference]

monoatomic cation transport [inference]

monoatomic cation transmembrane transport [inference]

proton transmembrane transport

monoatomic ion transmembrane transport [inference]

monoatomic cation transmembrane transport [inference]

proton transmembrane transport

transmembrane transport [inference]

monoatomic ion transmembrane transport [inference]

monoatomic cation transmembrane transport [inference]

proton transmembrane transport

inorganic ion transmembrane transport [inference]

inorganic cation transmembrane transport [inference]

proton transmembrane transport

biological regulation [inference]

regulation of pH [inference]

regulation of cellular pH [inference]

regulation of intracellular pH [inference]

intracellular pH reduction [inference]

regulation of biological process [inference]

regulation of metabolic process [inference]

regulation of catabolic process [inference]

regulation of cellular catabolic process [inference]

regulation of autophagy [inference]

regulation of macroautophagy

regulation of cellular metabolic process [inference]

regulation of cellular catabolic process [inference]

regulation of autophagy [inference]

regulation of macroautophagy

regulation of cellular process [inference]

regulation of cellular metabolic process [inference]

regulation of cellular catabolic process [inference]

regulation of autophagy [inference]

regulation of macroautophagy

regulation of biological quality [inference]

regulation of intracellular pH [inference]

intracellular pH reduction [inference]

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GO Term	Evidence Code	PMID
intracellular membrane-bounded organelle	IDA
vacuolar proton-transporting V-type ATPase, V0 domain	IEA
proton-transporting V-type ATPase complex		33065002
transmembrane transporter complex	IEA
plasma membrane	IBA IDA

GO Hierarchy

cellular component

protein-containing complex [inference]

membrane protein complex [inference]

proton-transporting two-sector ATPase complex [inference]

proton-transporting V-type ATPase complex

vacuolar proton-transporting V-type ATPase complex

proton-transporting two-sector ATPase complex, proton-transporting domain [inference]

proton-transporting V-type ATPase, V0 domain [inference]

vacuolar proton-transporting V-type ATPase, V0 domain

transmembrane transporter complex

catalytic complex [inference]

ATPase complex [inference]

proton-transporting two-sector ATPase complex [inference]

proton-transporting V-type ATPase complex

vacuolar proton-transporting V-type ATPase complex

transporter complex [inference]

transmembrane transporter complex

cellular anatomical entity [inference]

membrane [inference]

plasma membrane

organelle membrane [inference]

vesicle membrane [inference]

cytoplasmic vesicle membrane [inference]

endosome membrane

endocytic vesicle membrane [inference]

phagocytic vesicle membrane

bounding membrane of organelle [inference]

Golgi membrane

vacuolar membrane [inference]

lytic vacuole membrane [inference]

lysosomal membrane

endosome membrane

endocytic vesicle membrane [inference]

phagocytic vesicle membrane

cell junction [inference]

anchoring junction [inference]

cell-substrate junction [inference]

focal adhesion

organelle [inference]

membrane-bounded organelle [inference]

vesicle [inference]

intracellular vesicle [inference]

cytoplasmic vesicle [inference]

secretory vesicle [inference]

secretory granule [inference]

acrosomal vesicle

intracellular membrane-bounded organelle

intracellular vesicle [inference]

cytoplasmic vesicle [inference]

secretory vesicle [inference]

secretory granule [inference]

acrosomal vesicle

intracellular organelle [inference]

intracellular membrane-bounded organelle

intracellular vesicle [inference]

cytoplasmic vesicle [inference]

secretory vesicle [inference]

secretory granule [inference]

acrosomal vesicle

perinuclear region of cytoplasm

Displaying **all 3** entries
GO Term	Evidence Code	PMID
ATPase binding	IBA
proton-transporting ATPase activity, rotational mechanism	IEA
protein binding	IPI	16415858

GO Hierarchy

molecular function

transporter activity [inference]

transmembrane transporter activity [inference]

monoatomic ion transmembrane transporter activity [inference]

monoatomic cation transmembrane transporter activity [inference]

proton transmembrane transporter activity [inference]

proton-transporting ATPase activity, rotational mechanism

ATPase-coupled monoatomic cation transmembrane transporter activity [inference]

proton-transporting ATPase activity, rotational mechanism

active monoatomic ion transmembrane transporter activity [inference]

ATPase-coupled monoatomic cation transmembrane transporter activity [inference]

proton-transporting ATPase activity, rotational mechanism

inorganic molecular entity transmembrane transporter activity [inference]

inorganic cation transmembrane transporter activity [inference]

proton transmembrane transporter activity [inference]

proton-transporting ATPase activity, rotational mechanism

active transmembrane transporter activity [inference]

primary active transmembrane transporter activity [inference]

ATPase-coupled transmembrane transporter activity [inference]

ATPase-coupled monoatomic cation transmembrane transporter activity [inference]

proton-transporting ATPase activity, rotational mechanism

ATPase-coupled ion transmembrane transporter activity [inference]

ATPase activity, coupled to transmembrane movement of ions, rotational mechanism [inference]

proton-transporting ATPase activity, rotational mechanism

active monoatomic ion transmembrane transporter activity [inference]

ATPase-coupled monoatomic cation transmembrane transporter activity [inference]

proton-transporting ATPase activity, rotational mechanism

binding [inference]

protein binding

enzyme binding [inference]

ATPase binding

ATP-dependent activity [inference]

ATPase-coupled transmembrane transporter activity [inference]

ATPase-coupled monoatomic cation transmembrane transporter activity [inference]

proton-transporting ATPase activity, rotational mechanism

ATPase-coupled ion transmembrane transporter activity [inference]

ATPase activity, coupled to transmembrane movement of ions, rotational mechanism [inference]

proton-transporting ATPase activity, rotational mechanism

Gene Ontology information from NCBI Gene and UniProt.

Human Protein Atlas

ENSG00000185344

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

KEGG BRITE Database

Orthology

K02154

Name

V-type H+-transporting ATPase subunit a

References

Disease

Disease Ontology

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DO ID	Disease Name	Source
DOID:0090132	complex cortical dysplasia with other brain malformations 7	DisGeNET
DOID:0090137	complex cortical dysplasia with other brain malformations 1	DisGeNET
DOID:0110096	short-rib thoracic dysplasia 14 with polydactyly	DisGeNET
DOID:0110892	inflammatory bowel disease 1	DisGeNET
DOID:0110942	autosomal recessive osteopetrosis 1	Alliance of Genome Resources
DOID:0110946	autosomal recessive osteopetrosis 7	DisGeNET
DOID:0111045	platelet-type bleeding disorder 9	DisGeNET
DOID:0111056	platelet-type bleeding disorder 3	DisGeNET
DOID:0111057	platelet-type bleeding disorder 11	DisGeNET
DOID:0111135	congenital generalized lipodystrophy type 1	DisGeNET

The Human Phenotype Ontology

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HPO ID	HPO Term
HP:0002751	Kyphoscoliosis
HP:0002761	Generalized joint hypermobility
HP:0002808	Kyphosis
HP:0002812	Coxa vara
HP:0003100	Slender long bone
HP:0003160	Abnormal isoelectric focusing of serum transferrin
HP:0003196	Short nose
HP:0003199	Decreased muscle mass
HP:0003577	Congenital onset
HP:0003691	Scapular winging

Displaying **all 4** entries
Disease ID	Disease Name
OMIM:219200	autosomal recessive cutis laxa type 2A
ORPHA:357074	autosomal recessive cutis laxa type 2, classic type
OMIM:278250	wrinkly skin syndrome
ORPHA:2834	wrinkly skin syndrome

PubChem Disease

GHR Health Conditions

Cutis laxa

MedGen Diseases

OMIM Phenotypes

KEGG Diseases

Cutis laxa

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

Ortholog

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Caenorhabditis elegans	174743	WB:WBGene00006915
Caenorhabditis elegans	176257	WB:WBGene00006768
Caenorhabditis elegans	177626	WB:WBGene00006914
Caenorhabditis elegans	178219	WB:WBGene00006916
Drosophila melanogaster	34587	FB:FBgn0032373
Drosophila melanogaster	42214	FB:FBgn0038613
Drosophila melanogaster	246543	FB:FBgn0028669
Callorhinchus milii	103188002		CALMI38026
Latimeria chalumnae	102351124		LATCH18385
Danio rerio	561117	ZFIN:ZDB-GENE-060526-4	DANRE36906

GlyTouCan

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GlycoPOST

UniCarb-DR

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Other Information

Tools

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Summary

External Links

Annotation

KEGG BRITE Database

PubChem Disease

International Collaboration

Acknowledgements