Atp6v0a2 ATPase, H+ transporting, lysosomal V0 subunit A2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Atp6v0a2provided by MGI
Official Full Name: ATPase, H+ transporting, lysosomal V0 subunit A2provided by MGI
Primary source: MGI:MGI:104855
See related: Ensembl:ENSMUSG00000038023 AllianceGenome:MGI:104855
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: ISF; Tj6; J6B7; SHIF; Stv1; TJ6M; TJ6s; ATP6a2; Atp6n2; Atp6n1d; V-ATPase a2; 8430408C20Rik; V-ATPase 116 kDa
Summary: This gene encodes a subunit of vacuolar ATPase, a multimeric enzyme that localizes to intracellular vesicles and to the plasma membrane of specialized cells. The encoded protein is a component of the V(0) domain, which functions in proton translocation across membranes. Function of this gene is important in fetal-specific immune suppression during pregnancy. [provided by RefSeq, May 2013]
Expression: Ubiquitous expression in large intestine adult (RPKM 48.7), duodenum adult (RPKM 33.8) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 5 F; 5 63.7 cM

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (124767117..124801519)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (124629052..124724455)

Chromosome 5 - NC_000071.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

These data show that host cell-associated V-ATPase expression levels can affect breast cancer dissemination, at least in part, through Extracellular matrix remodeling.
Title: Mammary epithelium-specific inactivation of V-ATPase reduces stiffness of extracellular matrix and enhances metastasis of breast cancer.
a2V deficiency disrupts the endolysosomal route in Notch and TGF signaling, thereby impairing mammary gland development.
Title: The V-ATPase a2 isoform controls mammary gland development through Notch and TGF-β signaling.
The data provide novel evidence showing that a2V can regulate the apoptotic pathways, an essential testicular feature, and is necessary for efficient spermatogenesis.
Title: Male fertility and apoptosis in normal spermatogenesis are regulated by vacuolar-ATPase isoform a2.
These observations suggest that a2V plays a crucial role in spermatogenesis by regulating testicular immune responses, and its inhibition in males leads to poor pregnancy outcome in females.
Title: Vacuolar-ATPase isoform a2 regulates macrophages and cytokine profile necessary for normal spermatogenesis in testis.
Report Atp6v0a2 up-regulation/inflammatory response during preimplantation period of pregnancy may lead to successful pregnancy outcome.
Title: V-ATPase upregulation during early pregnancy: a possible link to establishment of an inflammatory response during preimplantation period of pregnancy.
Deceased expression of Atp6v0a2 in the various immune cell populations of the spleen and blood suggests that the maternal environment is not supportive to fetus and leads to poor pregnancy outcome in the abortion-prone mating model
Title: Abortion-prone mating influences alteration of systemic a2 vacuolar ATPase expression in spleen and blood immune cells.
a2V regulates the delicate cytokine and chemokine networks that coordinate the recruitment of macrophages for successful placental development and growth at the feto-maternal interface.
Title: Placental ATPase expression is a link between multiple causes of spontaneous abortion in mice.
Specific motifs of the V-ATPase a2-subunit isoform interact with catalytic and regulatory domains of ARNO.
Title: Specific motifs of the V-ATPase a2-subunit isoform interact with catalytic and regulatory domains of ARNO.
Immunolocalization demonstrated expression of all 'a' subunits in the proximal tubule and in the intercalated cells of the collecting system. PCR detected mRNAs encoding all four 'a' isoforms with a relative abundance in the following order: a4>a2=a1>a3.
Title: Differential localization of vacuolar H+-ATPases containing a1, a2, a3, or a4 (ATP6V0A1-4) subunit isoforms along the nephron.
Data demonstrate the crucial role of early endosomal acidification and V-ATPase/ARNO/Arf6 interactions in the regulation of the endocytic degradative pathway.
Title: V-ATPase interacts with ARNO and Arf6 in early endosomes and regulates the protein degradative pathway.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AW489264 (e-PCR)
- UniSTS:163371

AI385560 (e-PCR)
- UniSTS:165430

NoName (e-PCR)
- UniSTS:235322

Atp6v0a2 (e-PCR), detects polymorphism
- UniSTS:498261

RH126054 (e-PCR)
- UniSTS:162766

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATPase binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables proton-transporting ATPase activity, rotational mechanism	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in cellular response to increased oxygen levels	ISO Inferred from Sequence Orthology more info
involved_in cellular response to increased oxygen levels	ISS Inferred from Sequence or Structural Similarity more info
involved_in intracellular iron ion homeostasis	ISO Inferred from Sequence Orthology more info
involved_in intracellular iron ion homeostasis	ISS Inferred from Sequence or Structural Similarity more info
involved_in proton transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in vacuolar acidification	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in acrosomal vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in endosome membrane	IEA Inferred from Electronic Annotation more info
located_in focal adhesion	IEA Inferred from Electronic Annotation more info
located_in focal adhesion	ISO Inferred from Sequence Orthology more info
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
located_in intracellular organelle	IDA Inferred from Direct Assay more info	PubMed
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
part_of proton-transporting V-type ATPase complex	IDA Inferred from Direct Assay more info	PubMed
part_of proton-transporting V-type ATPase, V0 domain	IDA Inferred from Direct Assay more info	PubMed
part_of vacuolar proton-transporting V-type ATPase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of vacuolar proton-transporting V-type ATPase, V0 domain	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: V-type proton ATPase 116 kDa subunit a 2

Names: ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 2 (38kD); ATPase, H+ transporting, lysosomal V0 subunit a; T-cell expressing clone j6; V-ATPase 116 kDa subunit a 2; V-ATPase 116 kDa subunit a2; V-type proton ATPase 116 kDa subunit a; V-type proton ATPase 116 kDa subunit a2; immune suppressor factor J6B7; lysosomal H(+)-transporting ATPase V0 subunit a 2; vacuolar proton translocating ATPase 116 kDa subunit a

NP_035726.2

EC 7.1.2.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_011596.5 → NP_035726.2 V-type proton ATPase 116 kDa subunit a 2

Status: REVIEWED

Source sequence(s)

AF218252, AK017467, AK032909, AK160318, BP764071, CJ076040

Consensus CDS

CCDS84963.1

UniProtKB/Swiss-Prot

A4FU82, P15920, Q3U2X3, Q8VHU0, Q9JHJ2

Related

ENSMUSP00000039737.9, ENSMUST00000037865.13

Conserved Domains (2) summary

COG1269
Location:5 → 839

NtpI; Archaeal/vacuolar-type H+-ATPase subunit I/STV1 [Energy production and conversion]

pfam01496
Location:28 → 839

V_ATPase_I; V-type ATPase 116kDa subunit family