ATP6V0A2 ATPase H+ transporting V0 subunit a2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ATP6V0A2provided by HGNC
Official Full Name: ATPase H+ transporting V0 subunit a2provided by HGNC
Primary source: HGNC:HGNC:18481
See related: Ensembl:ENSG00000185344 MIM:611716; AllianceGenome:HGNC:18481
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: A2; RTF; TJ6; WSS; a2V; ARCL; J6B7; STV1; TJ6M; TJ6S; VPH1; ARCL2A; ATP6A2; ATP6N1D
Summary: 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]
Expression: Ubiquitous expression in lymph node (RPKM 4.1), duodenum (RPKM 4.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q24.31

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (123712353..123761755)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (123711219..123760679)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (124196900..124246302)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The Human Mutation K237_V238del in a Putative Lipid Binding Motif within the V-ATPase a2 Isoform Suggests a Molecular Mechanism Underlying Cutis Laxa.
Title: The Human Mutation K237_V238del in a Putative Lipid Binding Motif within the V-ATPase a2 Isoform Suggests a Molecular Mechanism Underlying Cutis Laxa.
Identification of a novel intronic variant of ATP6V0A2 in a Han-Chinese family with cutis laxa.
Title: Identification of a novel intronic variant of ATP6V0A2 in a Han-Chinese family with cutis laxa.
Two novel homozygous variants of ATP6V0A2 and ALDH18A1 lead to autosomal recessive cutis laxa type 2 and 3 in two Pakistani families.
Title: Two novel homozygous variants of ATP6V0A2 and ALDH18A1 lead to autosomal recessive cutis laxa type 2 and 3 in two Pakistani families.
Cancer-associated V-ATPase induces delayed apoptosis of protumorigenic neutrophils.
Title: Cancer-associated V-ATPase induces delayed apoptosis of protumorigenic neutrophils.
ATP6V0A2-related cutis laxa in 10 novel patients: Focus on clinical variability and expansion of the phenotype.
Title: ATP6V0A2-related cutis laxa in 10 novel patients: Focus on clinical variability and expansion of the phenotype.
Exome sequence analysis for the proband led to the identification of novel homozygous frameshift c.2085_2088del (p.(Ser695Argfs*12)) in ATP6V0A2, within the linked region, in the two affected siblings.
Title: A Novel ATP6V0A2 Mutation Causing Recessive Cutis Laxa with Unusual Manifestations of Bleeding Diathesis and Defective Wound Healing.
Low ATP6V0A2 expression is associated with asthenozoospermia.
Title: Proteomic analyses reveal lower expression of TEX40 and ATP6V0A2 proteins related to calcium ion entry and acrosomal acidification in asthenozoospermic males.
Data suggest that missense mutations in ATP6V0A2 and ATP6V0A4 that cause either cutis laxa or distal renal tubular acidosis result in enzyme subunits that are unstable, retained in endoplasmic reticulum (rather than transported to Golgi and cell membrane), and quickly degraded by proteasomes despite full glycosylation.
Title: Molecular mechanisms of cutis laxa- and distal renal tubular acidosis-causing mutations in V-ATPase a subunits, ATP6V0A2 and ATP6V0A4.
Study shows how tumor associated a2-isoform V-ATPase can induce neutrophil migration by stimulating autocrine secretion of IL-8, suggesting a mechanism for the creation of a level of inflammation that favors cancer growth.
Title: Cancer derived peptide of vacuolar ATPase 'a2' isoform promotes neutrophil migration by autocrine secretion of IL-8.
In cisplatin resistant cells, shRNA mediated inhibition of V-ATPase-V0a2 enhanced sensitivity towards both cisplatin and carboplatin.
Title: Selective inhibition of tumor cell associated Vacuolar-ATPase 'a2' isoform overcomes cisplatin resistance in ovarian cancer cells.

Submit: New GeneRIF Correction See all GeneRIFs (29)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Cutis laxa with osteodystrophy MedGen: C0268355 OMIM: 219200 GeneReviews: ATP6V0A2-Related Cutis Laxa	Compare labs
Wrinkly skin syndrome MedGen: C0406587 OMIM: 278250 GeneReviews: ATP6V0A2-Related Cutis Laxa	Compare labs

EBI GWAS Catalog

Description
Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH92322 (e-PCR)
- UniSTS:92984

D1S1423 (e-PCR)
- UniSTS:149619

WI-13960 (e-PCR)
- UniSTS:77525

Gene Ontology Provided by GOA

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 Golgi lumen acidification	NAS Non-traceable Author Statement more info	PubMed
involved_in cellular response to increased oxygen levels	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in immune response	TAS Traceable Author Statement more info	PubMed
involved_in intracellular iron ion homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in proton transmembrane transport	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of macroautophagy	NAS Non-traceable Author Statement more info	PubMed
involved_in vacuolar acidification	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in Golgi membrane	NAS Non-traceable Author Statement more info	PubMed
located_in acrosomal vesicle	IEA Inferred from Electronic Annotation more info
located_in endosome membrane	TAS Traceable Author Statement more info
located_in focal adhesion	IDA Inferred from Direct Assay more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in lysosomal membrane	HDA more info	PubMed
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
located_in phagocytic vesicle membrane	TAS Traceable Author Statement more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info
part_of proton-transporting V-type ATPase complex	NAS Non-traceable Author Statement 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: A2V-ATPase; ATPase, H+ transporting, lysosomal V0 subunit a2; V-ATPase 116 kDa subunit a 2; V-ATPase 116 kDa subunit a2; V-ATPase subunit a2; V-type proton ATPase 116 kDa subunit a2; lysosomal H(+)-transporting ATPase V0 subunit a 2; lysosomal H(+)-transporting ATPase V0 subunit a2; regeneration and tolerance factor; v-type proton ATPase 116 kDa subunit a; vacuolar proton translocating ATPase 116 kDa subunit a

NP_036595.2

EC 7.1.2.1

XP_024304678.1

EC 7.1.2.1

XP_024304679.1

EC 7.1.2.1

XP_024304680.1

EC 7.1.2.1

XP_054227591.1

EC 7.1.2.1

XP_054227592.1

EC 7.1.2.1

XP_054227593.1

EC 7.1.2.1

XP_054227594.1

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.

Genomic

NG_012743.1 RefSeqGene

Range

5036..54438

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_012463.4 → NP_036595.2 V-type proton ATPase 116 kDa subunit a 2

See identical proteins and their annotated locations for NP_036595.2

Status: REVIEWED

Source sequence(s)

AC117503, BC068531, BI562012, DA737084, R51339

Consensus CDS

CCDS9254.1

UniProtKB/Swiss-Prot

A8K026, Q6NUM0, Q9Y487

Related

ENSP00000332247.2, ENST00000330342.8

Conserved Domains (1) summary

pfam01496
Location:27 → 842

V_ATPase_I; V-type ATPase 116kDa subunit family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000012.12 Reference GRCh38.p14 Primary Assembly

Range

123712353..123761755

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_024448910.2 → XP_024304678.1 V-type proton ATPase 116 kDa subunit a 2 isoform X1

Conserved Domains (1) summary

pfam01496
Location:27 → 802

V_ATPase_I; V-type ATPase 116kDa subunit family
XM_024448911.2 → XP_024304679.1 V-type proton ATPase 116 kDa subunit a 2 isoform X2

Conserved Domains (1) summary

pfam01496
Location:2 → 671

V_ATPase_I; V-type ATPase 116kDa subunit family
XM_024448912.2 → XP_024304680.1 V-type proton ATPase 116 kDa subunit a 2 isoform X3

Conserved Domains (1) summary

pfam01496
Location:1 → 568

V_ATPase_I; V-type ATPase 116kDa subunit family

Alternate T2T-CHM13v2.0

Genomic

NC_060936.1 Alternate T2T-CHM13v2.0

Range

123711219..123760679

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054371616.1 → XP_054227591.1 V-type proton ATPase 116 kDa subunit a 2 isoform X1
XM_054371617.1 → XP_054227592.1 V-type proton ATPase 116 kDa subunit a 2 isoform X4
XM_054371618.1 → XP_054227593.1 V-type proton ATPase 116 kDa subunit a 2 isoform X5
XM_054371619.1 → XP_054227594.1 V-type proton ATPase 116 kDa subunit a 2 isoform X3