ATP6V0A2 Gene
protein-coding GIFtS: 63
GCID: GC12P124196
|
|
ATPase, H+ transporting, lysosomal V0 subunit a2(Previous names: infantile malignant osteopetrosis, ATPase, H+ transporting,...)
| |
Aliases
for ATP6V0A2 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| ATPase, H+ Transporting, Lysosomal V0 Subunit A21 2 | | A22 | | TJ61 2 3 | | A2V-ATPase2 | | ATP6N1D1 2 | | ARCL2A2 | | J6B71 2 | | ATP6A22 | | TJ6M1 2 | | RTF2 | | Lysosomal H(+)-Transporting ATPase V0 Subunit A22 3 | | STV12 | | ARCL2 5 | | TJ6S2 | | WSS2 5 | | VPH12 | | ATP6a21 | | Regeneration And Tolerance Factor2 | | Stv11 | | V-ATPase 116 KDa2 | | TJ6s1 | | V-Type Proton ATPase 116 KDa Subunit A2 | | Vph11 | | V-Type Proton ATPase 116 KDa Subunit A Isoform 22 | | A22 | | Vacuolar Proton Translocating ATPase 116 KDa Subunit A2 | | ATPase, H+ Transporting, Lysosomal V0 Subunit A Isoform 21 | | V-ATPase 116 KDa Isoform A23 | | Infantile Malignant Osteopetrosis1 | | Vacuolar Proton Translocating ATPase 116 KDa Subunit A Isoform 23 |
Export aliases for ATP6V0A2 gene to outside databasesPrevious GC identifers: GC12P122772 GC12U900035 GC12P123920 GC12P122550 GC12P122549 GC12P122721 GC12P122762 GC12P121158 |
Summaries
for ATP6V0A2 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for ATP6V0A2:
The protein encoded by this gene is a subunit of the vacuolar ATPase (v-ATPase), an heteromultimeric enzyme that ispresent in intracellular vesicles and in the plasma membrane of specialized cells, and which is essential for theacidification of diverse cellular components. V-ATPase is comprised of a membrane peripheral V(1) domain for ATPhydrolysis, and an integral membrane V(0) domain for proton translocation. The subunit encoded by this gene is acomponent 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)
UniProtKB/Swiss-Prot: VPP2_HUMAN, Q9Y487Function: Part of the proton channel of V-ATPases. Essential component of the endosomal pH-sensing machinery. May playa role in maintaining the Golgi functions, such as glycosylation maturation, by controlling the Golgi pH
 summary
for ATP6V0A2: 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, endosomes, the Golgi apparatus, chromaffin granules and coated
vesicles, as well as in the plasma membrane. H+-ATPase is a multisubunit complex composed of two domains.
The V1 domain is responsible for ATP hydrolysis and the V0 domain is responsible for protein translocation.
There are two main mechanisms of regulating H+-ATPase activity; recycling of H+-ATPase-containing vesicles
to and from the plasma membrane and glucose-sensitive assembly/disassembly of the holoenzyme complex. These
transporters play an important role in processes such as receptor-mediated endocytosis, protein degradation
and coupled transport. They have a function in bone reabsorption and mutations in the A3 gene cause
recessive osteopetrosis. Furthermore, H+-ATPases have been implicated in tumor metastasis and regulation of
sperm motility and maturation.
Gene Wiki entry for ATP6V0A2
|
Genomic Views
for ATP6V0A2 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000012.11 NC_018923.1 NT_009755.19
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the ATP6V0A2 gene promoter:
GR Nkx2-2 MyoD HNF-1A C/EBPalpha E47 CHOP-10 HNF-1 Hand1 ZID
Other transcription factors
Search SABiosciences Chromatin IP Primers for ATP6V0A2
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ATP6V0A2 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 12q24.31 Ensembl cytogenetic band: 12q24.31 HGNC cytogenetic band: 12q24.31ATP6V0A2 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 12 GeneLoc Exon Structure GeneLoc location for GC12P124196: view genomic region
(about GC identifiers)
Start:
|
124,196,865 bp from pter |
End:
|
124,246,302 bp from pter |
Size:
|
49,438 bases |
Orientation:
|
plus strand |
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Proteins
for ATP6V0A2 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: VPP2_HUMAN, Q9Y487 (See
protein sequence)Recommended Name: V-type proton ATPase 116 kDa subunit a isoform 2 Size: 856 amino acids; 98082 Da
Subunit: The V-ATPase is a heteromultimeric enzyme composed of at least thirteen different subunits. It has a membraneperipheral V1 sector for ATP hydrolysis and an integral V0 for proton translocation. The V1 sector comprises subunitsA-H, whereas V0 includes subunits a, d, c, c', and c''. Directly interacts with PSCD2 through its N-terminal cytosolictail in an intra-endosomal acidification-dependent manner. Disruption of this interaction results in the inhibition ofendocytosis
Subcellular location: Cell membrane; Multi-pass membrane protein. Endosome membrane. Note=In kidney proximal tubules,also detected in subapical vesicles (By similarity)
Caution: The N-terminus peptide may increase IL1B secretion by peripheral blood monocytes; however as this region isprobably in the cytosol, the in vivo relevance of this observation needs to be confirmed
Secondary accessions: A8K026 Q6NUM0Explore the universe of human proteins at neXtProt for ATP6V0A2: NX_Q9Y487
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9Y487
ATP6V0A2 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_036595.2
ENSEMBL proteins: ENSP00000332247 ENSP00000443441 ENSP00000443726 ENSP00000441143 Reactome Protein details: Q9Y487
Human Recombinant Protein Products:
Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8): About this table
ATP6V0A2 for ontologies About GeneDecksing
ATP6V0A2 Antibody Products:
Assay Products for ATP6V0A2: |
Protein
Domains /
Families
for ATP6V0A2 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
ATP6V0A2 for domains About GeneDecksing
2 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q9Y487ProtoNet protein and cluster: Q9Y487 1 Blocks protein family: IPB002490 V-type ATPase
UniProtKB/Swiss-Prot: VPP2_HUMAN, Q9Y487Similarity: Belongs to the V-ATPase 116 kDa subunit family |
Function
for ATP6V0A2 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: VPP2_HUMAN, Q9Y487Function: Part of the proton channel of V-ATPases. Essential component of the endosomal pH-sensing machinery. May playa role in maintaining the Golgi functions, such as glycosylation maturation, by controlling the Golgi pH
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ATP6V0A2 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ATP6V0A2
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
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Synthesis Service for ATP6V0A2 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATP6V0A2 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATP6V0A2 |
Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005515 | protein binding |
IPI | 16415858 | | GO:0015078 | hydrogen ion transmembrane transporter activity |
IEA | -- |
ATP6V0A2 for ontologies About GeneDecksing
|
Pathways & Interactions
for ATP6V0A2 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways - 5/11 super-pathways (see all 11) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Insulin receptor recycling | | | 2 | Disease | | | 3 | Rheumatoid arthritis | | | 4 | Tuberculosis | | | 5 | Lysosome | |
Pathway sources
See GeneCards unified pathways
Show all pathways
5/9 
Reactome Pathways for ATP6V0A2 (see all 9)
5/9 
Kegg Pathways (Kegg details for ATP6V0A2) (see all 9):
ATP6V0A2 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ATP6V0A2
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/59 Interacting proteins for ATP6V0A2 (Q9Y4871, 3 ENSP000003322474) via UniProtKB, MINT, STRING, and/or I2D (see all 59)About this table
Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8): About this table
ATP6V0A2 for ontologies About GeneDecksing
|
Drugs & Compounds
for ATP6V0A2 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
Compounds for ATP6V0A2 available from Tocris Bioscience About this table
4 HMDB Compounds for ATP6V0A2 About this table
Search CenterWatch for drugs/clinical trials and news about ATP6V0A2 / VPP2
|
Transcripts
for ATP6V0A2 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for ATP6V0A2 gene: NM_012463.3 Unigene Cluster for ATP6V0A2: ATPase, H+ transporting, lysosomal V0 subunit a2 Hs.25786 [show with all ESTs]Unigene Representative Sequence: NM_0124638 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000330342(uc001ufr.3) ENST00000540368(uc001ufq.1) ENST00000504192
ENST00000545059 ENST00000536426 ENST00000534943 ENST00000544833 ENST00000543687
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ATP6V0A2 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ATP6V0A2
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: ATP6V0A2 (NM_012463) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ATP6V0A2 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATP6V0A2 |
Additional cDNA sequence: AF112972.1 AK056800.1 AK289391.1 AK298778.1 BC000826.1 BC022300.1 BC068531.1 10 DOTS entries: DT.309415 DT.209260 DT.100815544 DT.445323 DT.121124070 DT.100711835 DT.86837312 DT.100700479 DT.75101655 DT.91808283 24/180 AceView cDNA sequences (see all 180): BQ935563 AA989502 NM_012463 AA983190 CB117213 AW850281 BM015513 CA436808 AW850381 AW274828 BI764686 BX280509 AI820609 BE465357 CA454893 AL701278 AI791750 AI792006 BF508078 AI261281 AI700211 BC068531 AW444520 BI012296
GeneLoc Exon Structure
4 Alternative Splicing Database (ASD) splice patterns (SP) for ATP6V0A2 About this scheme
| 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: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for ATP6V0A2
|
Expression
for ATP6V0A2 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| ATP6V0A2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AGCTGAACAG
About this image
See ATP6V0A2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ATP6V0A2
SOURCE GeneReport for Unigene cluster: Hs.25786
SABiosciences Expression via Pathway-Focused PCR Array including ATP6V0A2:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ATP6V0A2
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ATP6V0A2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ATP6V0A2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ATP6V0A2 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATP6V0A2 |
Orthologs
for ATP6V0A2 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for ATP6V0A2 gene from 9/30 species (see all 30) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
mouse
(Mus musculus) |
Mammalia |
Atp6v0a21 , 5 |
ATPase, H+ transporting, lysosomal V0 subunit A21, 5 |
84.23(n)1
91.59(a)1 |
|
5 (63.70 cM)5
218711 NM_011596.41 NP_035726.21
1246290675 |
chicken
(Gallus gallus) |
Aves |
ATP6V0A21 |
ATPase, H+ transporting, lysosomal V0 subunit a2 |
72.32(n)
73.44(a) |
|
395473 NM_204723.1 NP_990054.1 |
lizard
(Anolis carolinensis) |
Reptilia |
ATP6V0A26-- |
-- |
77(a)74(a) |
1 ↔ 1possible ortholog |
LGb(1707177-1719598) 5(16458847-16459788) |
tropical clawed frog
(Xenopus tropicalis) |
Amphibia |
BQ522242.12 |
-- |
75.79(n) |
|
BQ522242.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
si:ch211-106a19.21 |
si:ch211-106a19.2 |
66.55(n)
69.56(a) |
|
561117 NM_001122747.2 NP_001116219.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
Vha100-23 |
hydrogen-transporting two-sector ATPase |
44(a)
(best of 2) |
|
91A5 -- |
worm
(Caenorhabditis elegans) |
Secernentea |
vha-53 |
hydrogen ion transport |
39(a)
(best of 2) |
|
IV(8304181-8307239) -- |
thale cress
(Arabidopsis thaliana) |
eudicotyledons |
VHA-A36VHA-A16(see all 3) |
V-type H+-transporting ATPase subunit I(see all 3) |
37(a)37(a)(see all 3) |
possible orthologpossible ortholog(see all 3) |
4(18209399-18215056) 2(12209896-12215895) |
rice
(Oryza sativa) |
Liliopsida |
----(see all 3) |
vacuolar ATP synthase 98 kDa subunit, putative, ex...vacuolar ATP synthase 98 kDa subunit, putative, ex...(see all 3) |
37(a)37(a)(see all 3) |
possible orthologpossible ortholog(see all 3) |
10(5797394-5805885) 3(7981334-7988375) |
ENSEMBL Gene Tree for ATP6V0A2 (if available)
TreeFam Gene Tree for ATP6V0A2 (if available) |
Paralogs
for ATP6V0A2 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for ATP6V0A2 gene
- TCIRG12 ATP6V0A42 ATP6V0A12
5 SIMAP similar genes for ATP6V0A2 using alignment to 5 protein entries: VPP2_HUMAN (see all proteins):DKFZp781J1951 ATP6V0A1 ATP6V0A4 TCIRG1 DKFZp686N0561
ATP6V0A2 for paralogs About GeneDecksing
|
Genomic Variants
for ATP6V0A2 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 12 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for ATP6V0A2 (124196865 - 124246302 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for ATP6V0A2
1 CNV: 101632
1 Indel: 44981
Human Gene Mutation Database (HGMD): ATP6V0A2
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ATP6V0A2 |
|
Disorders
/ Diseases
for ATP6V0A2 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
ATP6V0A2 for disorders About GeneDecksing
OMIM gene information: 611716
OMIM disorders: 219200 278250
UniProtKB/Swiss-Prot: VPP2_HUMAN, Q9Y487
Defects in ATP6V0A2 are the cause of cutis laxa autosomal recessive type 2A (ARCL2A) [MIM:219200]. Anautosomal recessive disorder characterized by an excessive congenital skin wrinkling, a large fontanelle with delayedclosure, a typical facial appearance with downslanting palpebral fissures, a general connective tissue weakness, andvarying degrees of growth and developmental delay and neurological abnormalities. Some affected individuals developseizures and mental deterioration later in life, whereas the skin phenotype tends to become milder with age. At themolecular level, an abnormal glycosylation of serum proteins is observed in many cases Defects in ATP6V0A2 are a cause of wrinkly skin syndrome (WSS) [MIM:278250]. WSS is rare autosomal recessivedisorder characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar andplantar creases, wrinkled abdominal skin, multiple musculoskeletal abnormalities, microcephaly, growth failure anddevelopmental delay
17  diseases for ATP6V0A2: About MalaCardscutis laxa wrinkly skin syndrome osteopetrosis cutis laxa, autosomal recessive, type ii
lichen nitidus renal tubular acidosis rheumatoid arthritis microcephaly
cholera choriocarcinoma neurodegeneration arthritis
tuberculosis immunodeficiency malaria cutis laxa, autosomal recessive type 2a
vesiculitis
2 diseases from the University of Copenhagen DISEASES database for ATP6V0A2:Osteopetrosis Cutis laxa 2 Novoseek disease relationships for ATP6V0A2 gene About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| miscarriage |
43.1 |
5 |
8739450 (2), 7513260 (1) |
| atherosclerosis |
18.7 |
2 |
1908160 (2) |
GeneTests: ATP6V0A2
ATP6V0A2-Related Cutis Laxa
Export disorders for ATP6V0A2 gene to outside databases
|
Publications
for ATP6V0A2 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for ATP6V0A2 gene, integrated from 9 sources (see all 47):
(articles sorted by number of sources associating them with ATP6V0A2) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. (PubMed id 18157129)1, 2, 3 Kornak U....Mundlos S. (2008)
- The N-terminus domain of the a2 isoform of vacuolar ATPase can regulate interleukin-1beta production from mononuclear cells in co- culture with JEG-3 choriocarcinoma cells. (PubMed id 17295899)1, 2, 9 Ntrivalas E.... Beaman K. (2007)
- V-ATPase interacts with ARNO and Arf6 in early endosomes and regulates the protein degradative pathway. (PubMed id 16415858)1, 2 Hurtado-Lorenzo A....Marshansky V. (2006)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- Cloning of a cDNA for a T cell produced molecule with a putative immune regulatory role. (PubMed id 2247090)1, 3 Lee C....Beaman K.D. (1990)
- Vacuolar H+-ATPase meets glycosylation in patients wi th cutis laxa. (PubMed id 19171192)1, 9 Guillard M....Wevers R.A. (2009)
- Cloning, expression and functional characterization of the putative regeneration and tolerance factor (RTF/TJ6) as a functional vacuolar ATPase proton pump regulatory subunit with a conserved sequence of immunoreceptor tyrosine-based activation motif. (PubMed id 16113235)1, 9 Babichev Y....Isakov N. (2005)
- A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
- Proteome-wide identification of ubiquitylation sites b y conjugation of engineered lysine-less ubiquitin. (PubMed id 22053931)1 Oshikawa K....Nakayama K.I. (2012)
- Further characterization of ATP6V0A2-related autosomal recessive cutis laxa. (PubMed id 22773132)1 Fischer B....Kornak U. (2012)
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External Searches for ATP6V0A2 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing ATP6V0A2 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing ATP6V0A2 gene
(According to HUGE)
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Specialized Databases showing ATP6V0A2 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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| Name | Description |
| PharmGKB entry for ATP6V0A2 | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ATP6V0A2 |
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| Patent Information for ATP6V0A2 gene:
Search GeneIP for patents involving ATP6V0A2
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for ATP6V0A2 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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| | |  | OriGene Antibodies for ATP6V0A2 | | Browse OriGene shRNA RFPs | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ATP6V0A2 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ATP6V0A2 | | | Browse OriGene Protein Over-expression Lysates | | Browse OriGene Fluorogenic Cell Assay Kits | | | Browse OriGene siRNAs | | OriGene 3'-UTR Clone for ATP6V0A2 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ATP6V0A2 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ATP6V0A2 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat ATP6V0A2 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ATP6V0A2 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ATP6V0A2 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ATP6V0A2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ATP6V0A2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ATP6V0A2 |
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| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATP6V0A2 |
|  |  |  | | | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATP6V0A2 |
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