Details for: ATP6V1B2

Gene ID: 526

Symbol: ATP6V1B2

Ensembl ID: ENSG00000147416

Description: ATPase H+ transporting V1 subunit B2

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: myeloid leukocyte (CL0000766)
    Fold Change: 2.79
    Marker Score: 3371
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 2.74
    Marker Score: 5565
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 2.57
    Marker Score: 3103.5
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: 2.45
    Marker Score: 6106.5
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: 2.33
    Marker Score: 2201
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 2.1
    Marker Score: 117162
  • Cell Name: lung macrophage (CL1001603)
    Fold Change: 2.03
    Marker Score: 2323
  • Cell Name: CD14-positive, CD16-positive monocyte (CL0002397)
    Fold Change: 2.03
    Marker Score: 3954
  • Cell Name: alveolar macrophage (CL0000583)
    Fold Change: 2
    Marker Score: 51286
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 1.88
    Marker Score: 5368
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 1.83
    Marker Score: 544
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 1.82
    Marker Score: 908
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.76
    Marker Score: 18190
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 1.71
    Marker Score: 6725
  • Cell Name: eurydendroid cell (CL0000253)
    Fold Change: 1.7
    Marker Score: 696
  • Cell Name: elicited macrophage (CL0000861)
    Fold Change: 1.68
    Marker Score: 10236
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 1.63
    Marker Score: 2347
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 1.62
    Marker Score: 55084
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 1.6
    Marker Score: 31740
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: 1.59
    Marker Score: 1595
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.59
    Marker Score: 97671
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 1.53
    Marker Score: 845
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 1.52
    Marker Score: 5389
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 1.51
    Marker Score: 55696
  • Cell Name: alternatively activated macrophage (CL0000890)
    Fold Change: 1.49
    Marker Score: 623
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.49
    Marker Score: 12768
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.48
    Marker Score: 14066
  • Cell Name: non-classical monocyte (CL0000875)
    Fold Change: 1.45
    Marker Score: 3510
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 1.44
    Marker Score: 979
  • Cell Name: CD1c-positive myeloid dendritic cell (CL0002399)
    Fold Change: 1.42
    Marker Score: 3685
  • Cell Name: blood cell (CL0000081)
    Fold Change: 1.4
    Marker Score: 16251
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.39
    Marker Score: 5368
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 1.38
    Marker Score: 52473
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.37
    Marker Score: 12891
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 1.35
    Marker Score: 544
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.33
    Marker Score: 2059
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 1.33
    Marker Score: 1492
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 1.32
    Marker Score: 19797
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 1.32
    Marker Score: 1413
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 1.29
    Marker Score: 2354
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 1.28
    Marker Score: 5311
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 1.25
    Marker Score: 359
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 1.22
    Marker Score: 9318
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.2
    Marker Score: 2820
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 1.18
    Marker Score: 480
  • Cell Name: oocyte (CL0000023)
    Fold Change: 1.18
    Marker Score: 292
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 1.18
    Marker Score: 1474.5
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 1.17
    Marker Score: 10057
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.15
    Marker Score: 1210
  • Cell Name: glandular epithelial cell (CL0000150)
    Fold Change: 1.13
    Marker Score: 2774.5
  • Cell Name: pancreatic stellate cell (CL0002410)
    Fold Change: 1.12
    Marker Score: 704
  • Cell Name: classical monocyte (CL0000860)
    Fold Change: 1.11
    Marker Score: 4613
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: 1.11
    Marker Score: 413
  • Cell Name: fibroblast of breast (CL4006000)
    Fold Change: 1.09
    Marker Score: 623
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: 1.06
    Marker Score: 704
  • Cell Name: macrophage (CL0000235)
    Fold Change: 1.05
    Marker Score: 1167
  • Cell Name: neural cell (CL0002319)
    Fold Change: 1.04
    Marker Score: 501
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 1.04
    Marker Score: 251608
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 1.04
    Marker Score: 361
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 1.03
    Marker Score: 2602
  • Cell Name: monocyte (CL0000576)
    Fold Change: 1.01
    Marker Score: 1318
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71632
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 0.99
    Marker Score: 47857
  • Cell Name: primary sensory neuron (sensu Teleostei) (CL0000531)
    Fold Change: 0.99
    Marker Score: 332
  • Cell Name: mature microglial cell (CL0002629)
    Fold Change: 0.99
    Marker Score: 356
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30377
  • Cell Name: enteroendocrine cell (CL0000164)
    Fold Change: 0.98
    Marker Score: 507
  • Cell Name: mammary gland epithelial cell (CL0002327)
    Fold Change: 0.96
    Marker Score: 342
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.96
    Marker Score: 4026
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.96
    Marker Score: 14978
  • Cell Name: central nervous system macrophage (CL0000878)
    Fold Change: 0.95
    Marker Score: 471
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.94
    Marker Score: 2387
  • Cell Name: dendritic cell, human (CL0001056)
    Fold Change: 0.94
    Marker Score: 954
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.94
    Marker Score: 1034
  • Cell Name: myelocyte (CL0002193)
    Fold Change: 0.93
    Marker Score: 404
  • Cell Name: neutrophil (CL0000775)
    Fold Change: 0.93
    Marker Score: 568
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 0.93
    Marker Score: 229
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.93
    Marker Score: 32069
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 0.92
    Marker Score: 1516
  • Cell Name: PP cell (CL0000696)
    Fold Change: 0.92
    Marker Score: 208
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.92
    Marker Score: 475
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.92
    Marker Score: 845.5
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.92
    Marker Score: 433
  • Cell Name: intermediate monocyte (CL0002393)
    Fold Change: 0.9
    Marker Score: 312
  • Cell Name: promyelocyte (CL0000836)
    Fold Change: 0.9
    Marker Score: 446
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.9
    Marker Score: 5763
  • Cell Name: fibroblast of lung (CL0002553)
    Fold Change: 0.9
    Marker Score: 2357
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.9
    Marker Score: 2684
  • Cell Name: myoepithelial cell of mammary gland (CL0002324)
    Fold Change: 0.9
    Marker Score: 4397.5
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.89
    Marker Score: 288
  • Cell Name: dendritic cell (CL0000451)
    Fold Change: 0.89
    Marker Score: 613
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 0.89
    Marker Score: 794
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 0.88
    Marker Score: 466
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: 0.88
    Marker Score: 462
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.88
    Marker Score: 5041
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.88
    Marker Score: 210
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5287
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.87
    Marker Score: 3546
  • Cell Name: granulocyte (CL0000094)
    Fold Change: 0.87
    Marker Score: 390
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 0.87
    Marker Score: 919

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Other Information

**Key characteristics:** - The ATP6V1B2 gene is located on chromosome 15q21.3. - It is a single-exon gene encoding a protein of 334 amino acids. - The protein is a member of the ATPase H+ family of proteins. **Pathways and functions:** - ATP6V1B2 is involved in cellular energy metabolism. - It is a key regulator of mtorc1, a protein that is involved in mitochondrial respiration. - ATP6V1B2 is also involved in Atp binding, cellular responses to stimuli, cellular responses to stress, cellular response to starvation, and immune response. - It is involved in the regulation of insulin receptor recycling and the transport of small molecules. **Clinical significance:** - Mutations in the ATP6V1B2 gene have been linked to several human diseases, including Wolfram syndrome and diabetes. - These diseases are characterized by a defect in mitochondrial energy metabolism. - Targeting ATP6V1B2 has been investigated as a therapeutic strategy for these diseases.

Genular Protein ID: 2685274077

Symbol: VATB2_HUMAN

Name: V-type proton ATPase subunit B, brain isoform

UniProtKB Accession Codes:

P21281 B2R5Z3 D3DSQ5 Q14544 Q15859 Q96IR0

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 3 CORUM 1 CTD 1 ChEBI 1 ChEMBL 1 ChiTaRS 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 3 DrugCentral 1 EMBL 10 EMDB 6 EPD 1 Ensembl 1 ExpressionAtlas 1 GO 20 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HAMAP 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 6 KEGG 1 MANE-Select 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 MetOSite 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 3 OrthoDB 1 PANTHER 2 PDB 13 PDBsum 6 PIR 2 PIRSF 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 REPRODUCTION-2DPAGE 1 RNAct 1 Reactome 5 RefSeq 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TCDB 1 TreeFam 1 UCSC 1 UniProtKB 3 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 1373501

Title: Selectively amplified expression of an isoform of the vacuolar H(+)-ATPase 56-kilodalton subunit in renal intercalated cells.

PubMed ID: 1373501

DOI: 10.1073/pnas.89.8.3541

PubMed ID: 7945239

Title: Heterogeneity of vacuolar H(+)-ATPase: differential expression of two human subunit B isoforms.

PubMed ID: 7945239

DOI: 10.1042/bj3030191

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: 7706273

Title: Transcriptional regulation of the vacuolar H(+)-ATPase B2 subunit gene in differentiating THP-1 cells.

PubMed ID: 7706273

DOI: 10.1074/jbc.270.13.7320

PubMed ID: 2145275

Title: An mRNA from human brain encodes an isoform of the B subunit of the vacuolar H(+)-ATPase.

PubMed ID: 2145275

DOI: 10.1016/s0021-9258(18)38179-1

PubMed ID: 12643545

Title: Proteomic analysis of early melanosomes: identification of novel melanosomal proteins.

PubMed ID: 12643545

DOI: 10.1021/pr025562r

PubMed ID: 17081065

Title: Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes.

PubMed ID: 17081065

DOI: 10.1021/pr060363j

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 24913193

Title: De novo mutation in ATP6V1B2 impairs lysosome acidification and causes dominant deafness-onychodystrophy syndrome.

PubMed ID: 24913193

DOI: 10.1038/cr.2014.77

PubMed ID: 25915598

Title: Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome.

PubMed ID: 25915598

DOI: 10.1038/ng.3282

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 29993276

Title: H+-ATPase B1 subunit localizes to thick ascending limb and distal convoluted tubule of rodent and human kidney.

PubMed ID: 29993276

DOI: 10.1152/ajprenal.00539.2017

PubMed ID: 32001091

Title: Structure and Roles of V-type ATPases.

PubMed ID: 32001091

DOI: 10.1016/j.tibs.2019.12.007

PubMed ID: 33065002

Title: Structures of a Complete Human V-ATPase Reveal Mechanisms of Its Assembly.

PubMed ID: 33065002

DOI: 10.1016/j.molcel.2020.09.029

Sequence Information:

  • Length: 511
  • Mass: 56501
  • Checksum: E01E85BBA36E5DED
  • Sequence:
    • MALRAMRGIV NGAAPELPVP TGGPAVGARE QALAVSRNYL SQPRLTYKTV SGVNGPLVIL 
DHVKFPRYAE IVHLTLPDGT KRSGQVLEVS GSKAVVQVFE GTSGIDAKKT SCEFTGDILR 
TPVSEDMLGR VFNGSGKPID RGPVVLAEDF LDIMGQPINP QCRIYPEEMI QTGISAIDGM 
NSIARGQKIP IFSAAGLPHN EIAAQICRQA GLVKKSKDVV DYSEENFAIV FAAMGVNMET 
ARFFKSDFEE NGSMDNVCLF LNLANDPTIE RIITPRLALT TAEFLAYQCE KHVLVILTDM 
SSYAEALREV SAAREEVPGR RGFPGYMYTD LATIYERAGR VEGRNGSITQ IPILTMPNDD 
ITHPIPDLTG YITEGQIYVD RQLHNRQIYP PINVLPSLSR LMKSAIGEGM TRKDHADVSN 
QLYACYAIGK DVQAMKAVVG EEALTSDDLL YLEFLQKFER NFIAQGPYEN RTVFETLDIG 
WQLLRIFPKE MLKRIPQSTL SEFYPRDSAK H

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. For the full schema, download it here.