Details for: ATP6V0A2

Gene ID: 23545

Symbol: ATP6V0A2

Ensembl ID: ENSG00000185344

Description: ATPase H+ transporting V0 subunit a2

Associated with

Cells (max top 100)

(Marker Scores and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: erythroid progenitor cell, mammalian (CL0001066)
    Fold Change: 1.27
    Marker Score: 408
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.25
    Marker Score: 1,924
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.14
    Marker Score: 9,803
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.12
    Marker Score: 10,575
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 1.11
    Marker Score: 41,021
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.06
    Marker Score: 10,928
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.05
    Marker Score: 64,381
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 1.03
    Marker Score: 39,023
  • Cell Name: neuron (CL0000540)
    Fold Change: 1.02
    Marker Score: 4,142
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.01
    Marker Score: 9,598
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71,719
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47,943
  • Cell Name: interneuron (CL0000099)
    Fold Change: 0.99
    Marker Score: 454
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30,396
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.94
    Marker Score: 2,398
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.92
    Marker Score: 476
  • Cell Name: basophil (CL0000767)
    Fold Change: 0.92
    Marker Score: 438
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.91
    Marker Score: 432
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.9
    Marker Score: 2,707
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.9
    Marker Score: 823
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5,292
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 0.87
    Marker Score: 1,092
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 0.86
    Marker Score: 3,555
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 0.85
    Marker Score: 12,746
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.85
    Marker Score: 4,857
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 0.85
    Marker Score: 16,928
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.85
    Marker Score: 305
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.82
    Marker Score: 3,181
  • Cell Name: hematopoietic precursor cell (CL0008001)
    Fold Change: 0.82
    Marker Score: 286
  • Cell Name: CD34-positive, CD38-negative hematopoietic stem cell (CL0001024)
    Fold Change: 0.81
    Marker Score: 587
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 0.8
    Marker Score: 546
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.79
    Marker Score: 1,794
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.79
    Marker Score: 456
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 0.78
    Marker Score: 5,996
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.77
    Marker Score: 1,256
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.76
    Marker Score: 304
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.75
    Marker Score: 834
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: 0.75
    Marker Score: 2,580
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.75
    Marker Score: 785
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.74
    Marker Score: 562
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.73
    Marker Score: 11,480
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.72
    Marker Score: 252
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 0.72
    Marker Score: 207
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.72
    Marker Score: 371
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 0.69
    Marker Score: 517
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.68
    Marker Score: 2,851
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 0.68
    Marker Score: 284
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.68
    Marker Score: 14,447
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.67
    Marker Score: 172
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.66
    Marker Score: 602
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.65
    Marker Score: 173
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 0.65
    Marker Score: 314
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.65
    Marker Score: 641
  • Cell Name: erythroblast (CL0000765)
    Fold Change: 0.64
    Marker Score: 400
  • Cell Name: common lymphoid progenitor (CL0000051)
    Fold Change: 0.63
    Marker Score: 431
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.63
    Marker Score: 1,387
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.62
    Marker Score: 1,257
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 0.61
    Marker Score: 881
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 0.6
    Marker Score: 384
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.6
    Marker Score: 396
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 0.59
    Marker Score: 684
  • Cell Name: Bergmann glial cell (CL0000644)
    Fold Change: 0.59
    Marker Score: 239
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 0.58
    Marker Score: 158
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 0.58
    Marker Score: 304
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.57
    Marker Score: 335
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 0.57
    Marker Score: 390
  • Cell Name: kidney collecting duct cell (CL1001225)
    Fold Change: 0.57
    Marker Score: 111
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 0.57
    Marker Score: 611
  • Cell Name: Unknown (CL0000548)
    Fold Change: 0.57
    Marker Score: 413
  • Cell Name: granulocyte (CL0000094)
    Fold Change: 0.56
    Marker Score: 250
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.56
    Marker Score: 332
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 0.56
    Marker Score: 225
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.55
    Marker Score: 1,307
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.55
    Marker Score: 315
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 0.55
    Marker Score: 1,313
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 0.55
    Marker Score: 255
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 0.54
    Marker Score: 317
  • Cell Name: eosinophil (CL0000771)
    Fold Change: 0.54
    Marker Score: 176
  • Cell Name: mature alpha-beta T cell (CL0000791)
    Fold Change: 0.54
    Marker Score: 28,536
  • Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
    Fold Change: 0.54
    Marker Score: 4,654
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.53
    Marker Score: 426
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.53
    Marker Score: 521
  • Cell Name: CD8-alpha-alpha-positive, alpha-beta intraepithelial T cell (CL0000915)
    Fold Change: 0.53
    Marker Score: 752
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.53
    Marker Score: 195
  • Cell Name: mesenchymal lymphangioblast (CL0005021)
    Fold Change: 0.53
    Marker Score: 118
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.53
    Marker Score: 707
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 0.53
    Marker Score: 351
  • Cell Name: mature gamma-delta T cell (CL0000800)
    Fold Change: 0.52
    Marker Score: 1,655
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.52
    Marker Score: 153
  • Cell Name: common dendritic progenitor (CL0001029)
    Fold Change: 0.52
    Marker Score: 181
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.52
    Marker Score: 2,182
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.52
    Marker Score: 451
  • Cell Name: hematopoietic multipotent progenitor cell (CL0000837)
    Fold Change: 0.52
    Marker Score: 252
  • Cell Name: CD8-positive, alpha-beta memory T cell (CL0000909)
    Fold Change: 0.51
    Marker Score: 436
  • Cell Name: type I NK T cell (CL0000921)
    Fold Change: 0.51
    Marker Score: 401
  • Cell Name: CD4-positive helper T cell (CL0000492)
    Fold Change: 0.51
    Marker Score: 554
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.51
    Marker Score: 164
  • Cell Name: dendritic cell (CL0000451)
    Fold Change: 0.51
    Marker Score: 348
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.51
    Marker Score: 212
  • Cell Name: NKp44-negative group 3 innate lymphoid cell, human (CL0001080)
    Fold Change: 0.51
    Marker Score: 112

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** The V0 subunit alpha 2 of the V-ATPase complex is a transmembrane protein that spans the membrane multiple times, with a large N-terminal domain and a small C-terminal domain. The protein has a molecular weight of 116 kDa and is composed of multiple repeats of the conserved motif GxGxG. The V-ATPase complex is a proton-pumping enzyme that uses the energy from ATP hydrolysis to pump protons across the membrane, resulting in acidification of the surrounding environment. This process is essential for various cellular functions, including vesicle acidification, membrane trafficking, and signaling. **Pathways and Functions** The ATP6V0A2 gene is involved in various signaling pathways, including: 1. **Acrosomal vesicle formation and function**: The V-ATPase complex is essential for the acidification of the acrosomal vesicles in sperm cells, allowing for fertilization to occur. 2. **Endosomal acidification**: The V-ATPase complex plays a crucial role in the acidification of endosomes, which is necessary for protein degradation and recycling. 3. **Immune response**: The V-ATPase complex is involved in the regulation of macroautophagy and the production of reactive oxygen species (ROS) in phagocytes. 4. **Iron ion homeostasis**: The V-ATPase complex is involved in the regulation of intracellular iron ion homeostasis. 5. **Signaling by insulin receptor**: The V-ATPase complex is involved in the signaling pathways of insulin receptor recycling and transferrin endocytosis and recycling. **Clinical Significance** Dysregulation of the V-ATPase complex has been implicated in various diseases, including: 1. **Neurological disorders**: Mutations in the ATP6V0A2 gene have been associated with neurological disorders, such as epilepsy and intellectual disability. 2. **Immune system disorders**: Dysregulation of the V-ATPase complex has been implicated in immune system disorders, such as autoimmune diseases and cancer. 3. **Metabolic disorders**: The V-ATPase complex plays a crucial role in glucose and lipid metabolism, and dysregulation of the complex has been implicated in metabolic disorders, such as type 2 diabetes and obesity. 4. **Fertilization disorders**: Mutations in the ATP6V0A2 gene have been associated with fertilization disorders, such as infertility and recurrent miscarriage. In conclusion, the ATP6V0A2 gene plays a crucial role in various cellular processes, including acidification, transport, and signaling pathways. Dysregulation of the V-ATPase complex has been implicated in various diseases, highlighting the importance of further research into the functions and dysregulation of this gene.

Genular Protein ID: 1417427081

Symbol: VPP2_HUMAN

Name: V-type proton ATPase 116 kDa subunit a 2

UniProtKB Accession Codes:

Q9Y487 A8K026 Q6NUM0

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChiTaRS 1 ComplexPortal 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 1 EMBL 4 EPD 1 Ensembl 1 ExpressionAtlas 1 GO 22 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 KEGG 1 MANE-Select 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PIRSF 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 4 RefSeq 1 SMR 1 STRING 1 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 UniProtKB 3 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 16415858

Title: V-ATPase interacts with ARNO and Arf6 in early endosomes and regulates the protein degradative pathway.

PubMed ID: 16415858

DOI: 10.1038/ncb1348

PubMed ID: 17295899

Title: The N-terminal 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

DOI: 10.1111/j.1600-0897.2006.00463.x

PubMed ID: 17525332

Title: ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.

PubMed ID: 17525332

DOI: 10.1126/science.1140321

PubMed ID: 18157129

Title: Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.

PubMed ID: 18157129

DOI: 10.1038/ng.2007.45

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 28296633

Title: The vacuolar-ATPase complex and assembly factors, TMEM199 and CCDC115, control HIF1alpha prolyl hydroxylation by regulating cellular iron levels.

PubMed ID: 28296633

DOI: 10.7554/elife.22693

PubMed ID: 28024296

Title: mTORC1 and muscle regeneration are regulated by the LINC00961-encoded SPAR polypeptide.

PubMed ID: 28024296

DOI: 10.1038/nature21034

Sequence Information:

  • Length: 856
  • Mass: 98082
  • Checksum: 6C38B36FA33A92BA
  • Sequence:
    • MGSLFRSETM CLAQLFLQSG TAYECLSALG EKGLVQFRDL NQNVSSFQRK FVGEVKRCEE 
LERILVYLVQ EINRADIPLP EGEASPPAPP LKQVLEMQEQ LQKLEVELRE VTKNKEKLRK 
NLLELIEYTH MLRVTKTFVK RNVEFEPTYE EFPSLESDSL LDYSCMQRLG AKLGFVSGLI 
NQGKVEAFEK MLWRVCKGYT IVSYAELDES LEDPETGEVI KWYVFLISFW GEQIGHKVKK 
ICDCYHCHVY PYPNTAEERR EIQEGLNTRI QDLYTVLHKT EDYLRQVLCK AAESVYSRVI 
QVKKMKAIYH MLNMCSFDVT NKCLIAEVWC PEADLQDLRR ALEEGSRESG ATIPSFMNII 
PTKETPPTRI RTNKFTEGFQ NIVDAYGVGS YREVNPALFT IITFPFLFAV MFGDFGHGFV 
MFLFALLLVL NENHPRLNQS QEIMRMFFNG RYILLLMGLF SVYTGLIYND CFSKSVNLFG 
SGWNVSAMYS SSHPPAEHKK MVLWNDSVVR HNSILQLDPS IPGVFRGPYP LGIDPIWNLA 
TNRLTFLNSF KMKMSVILGI IHMTFGVILG IFNHLHFRKK FNIYLVSIPE LLFMLCIFGY 
LIFMIFYKWL VFSAETSRVA PSILIEFINM FLFPASKTSG LYTGQEYVQR VLLVVTALSV 
PVLFLGKPLF LLWLHNGRSC FGVNRSGYTL IRKDSEEEVS LLGSQDIEEG NHQVEDGCRE 
MACEEFNFGE ILMTQVIHSI EYCLGCISNT ASYLRLWALS LAHAQLSDVL WAMLMRVGLR 
VDTTYGVLLL LPVIALFAVL TIFILLIMEG LSAFLHAIRL HWVEFQNKFY VGAGTKFVPF 
SFSLLSSKFN NDDSVA

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.