Details for: ATP6V1B2

Gene ID: 526

Symbol: ATP6V1B2

Ensembl ID: ENSG00000147416

Description: ATPase H+ transporting V1 subunit B2

Associated with

Cells (max top 100)

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

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 292.7766
    Cell Significance Index: -45.5400
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 182.1455
    Cell Significance Index: -46.2000
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 123.2317
    Cell Significance Index: -50.7700
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 103.5960
    Cell Significance Index: -48.9100
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 102.7182
    Cell Significance Index: -41.7300
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 91.1768
    Cell Significance Index: -46.9000
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 44.0223
    Cell Significance Index: -42.0300
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 39.1336
    Cell Significance Index: -48.2500
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 16.0217
    Cell Significance Index: -42.9200
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 13.1778
    Cell Significance Index: -40.4800
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 12.4732
    Cell Significance Index: -49.2200
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 4.1776
    Cell Significance Index: 219.3400
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 2.3303
    Cell Significance Index: 43.0700
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 2.3167
    Cell Significance Index: 229.1800
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 2.0821
    Cell Significance Index: 24.8200
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.6073
    Cell Significance Index: 322.4200
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 1.5552
    Cell Significance Index: 98.0200
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.8749
    Cell Significance Index: 25.0800
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.8474
    Cell Significance Index: 303.9400
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.6335
    Cell Significance Index: 43.8100
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 0.5891
    Cell Significance Index: 16.8100
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.5753
    Cell Significance Index: 27.0400
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.5512
    Cell Significance Index: 37.0600
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.5348
    Cell Significance Index: 101.7800
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.4997
    Cell Significance Index: 64.5600
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.4912
    Cell Significance Index: 268.2400
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.3929
    Cell Significance Index: 10.4900
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.3665
    Cell Significance Index: 72.7400
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.2751
    Cell Significance Index: 121.6300
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.2318
    Cell Significance Index: 29.7200
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 0.2275
    Cell Significance Index: 3.5200
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.1837
    Cell Significance Index: 3.9800
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.1786
    Cell Significance Index: 10.9800
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.1735
    Cell Significance Index: 5.0000
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.1248
    Cell Significance Index: 22.5000
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.1126
    Cell Significance Index: 77.9100
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.1059
    Cell Significance Index: 2.9600
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0872
    Cell Significance Index: 11.9800
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.0658
    Cell Significance Index: 3.4300
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0574
    Cell Significance Index: 108.1400
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0414
    Cell Significance Index: 7.0800
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.0376
    Cell Significance Index: 4.6300
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0299
    Cell Significance Index: 1.0500
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0179
    Cell Significance Index: 11.3700
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.0172
    Cell Significance Index: 0.8000
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.0101
    Cell Significance Index: 1.1900
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0018
    Cell Significance Index: -0.0800
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0020
    Cell Significance Index: -3.7300
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0112
    Cell Significance Index: -17.2500
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0148
    Cell Significance Index: -20.0600
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0209
    Cell Significance Index: -15.4600
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0320
    Cell Significance Index: -19.9900
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0321
    Cell Significance Index: -3.2800
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0365
    Cell Significance Index: -27.5900
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0409
    Cell Significance Index: -29.9700
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: -0.0448
    Cell Significance Index: -7.2900
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0656
    Cell Significance Index: -36.9800
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0672
    Cell Significance Index: -30.5100
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1253
    Cell Significance Index: -26.3900
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1396
    Cell Significance Index: -40.1800
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.1523
    Cell Significance Index: -2.6100
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1657
    Cell Significance Index: -19.3100
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.1707
    Cell Significance Index: -19.4800
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.1935
    Cell Significance Index: -4.1200
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.2141
    Cell Significance Index: -31.1200
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.2316
    Cell Significance Index: -14.9400
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.2445
    Cell Significance Index: -17.2900
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.2480
    Cell Significance Index: -10.9700
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.2528
    Cell Significance Index: -3.1400
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.2663
    Cell Significance Index: -19.8500
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.2817
    Cell Significance Index: -21.6200
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.2904
    Cell Significance Index: -33.2700
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.3076
    Cell Significance Index: -9.0400
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.3286
    Cell Significance Index: -18.4400
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.3578
    Cell Significance Index: -13.5500
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.3974
    Cell Significance Index: -9.5300
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.4078
    Cell Significance Index: -13.0600
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.4362
    Cell Significance Index: -45.4200
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.4489
    Cell Significance Index: -15.6000
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.4864
    Cell Significance Index: -38.5200
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.5215
    Cell Significance Index: -13.9500
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.5390
    Cell Significance Index: -9.0200
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.5669
    Cell Significance Index: -29.4500
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.6547
    Cell Significance Index: -17.2200
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.7289
    Cell Significance Index: -15.4700
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.7613
    Cell Significance Index: -19.4500
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.7637
    Cell Significance Index: -10.4200
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.7904
    Cell Significance Index: -48.4600
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.8563
    Cell Significance Index: -22.0100
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.9306
    Cell Significance Index: -25.3300
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.9397
    Cell Significance Index: -18.5800
  • Cell Name: L6 intratelencephalic projecting glutamatergic neuron of the primary motor cortex (CL4023050)
    Fold Change: -0.9850
    Cell Significance Index: -13.1400
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.9922
    Cell Significance Index: -31.6000
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.9985
    Cell Significance Index: -32.6900
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -1.0219
    Cell Significance Index: -30.1000
  • Cell Name: helper T cell (CL0000912)
    Fold Change: -1.0810
    Cell Significance Index: -15.3600
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -1.0827
    Cell Significance Index: -29.0100
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -1.0964
    Cell Significance Index: -38.4100
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -1.1335
    Cell Significance Index: -7.6800
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -1.1516
    Cell Significance Index: -42.2800

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 Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

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 Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: 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 Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: 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** 1. **Proton-pumping subunit**: VATB2 is a part of the V-type proton ATPase complex, which pumps protons (H+) across cell membranes, driving the synthesis of ATP. 2. **Acidification regulation**: The gene product plays a critical role in regulating acidification in various cellular compartments, including lysosomes, vacuoles, and the synaptic vesicle lumen. 3. **Cellular localization**: VATB2 is expressed in a wide range of cell types, including myeloid leukocytes, GABAergic and glycinergic neurons, and macrophages. 4. **Signaling and immune responses**: The gene product is involved in various signaling pathways, including insulin receptor recycling, transferrin endocytosis and recycling, and regulation of macroautophagy, highlighting its role in immune responses and cellular homeostasis. **Pathways and Functions** 1. **Proton transport**: VATB2 facilitates proton transport across cell membranes, contributing to the regulation of pH balance within cells. 2. **Signaling pathways**: The gene product is involved in various signaling pathways, including: * Insulin receptor recycling * Transferrin endocytosis and recycling * Regulation of macroautophagy * Signaling by insulin receptor and receptor tyrosine kinases 3. **Immune responses**: VATB2 is expressed in myeloid leukocytes and macrophages, highlighting its role in immune responses, particularly in the regulation of lysosomal acidification and the processing of antigens. 4. **Neuronal function**: The gene product is expressed in GABAergic and glycinergic neurons, suggesting its involvement in neuronal function and the regulation of synaptic vesicle lumen acidification. **Clinical Significance** 1. **Immune disorders**: Alterations in VATB2 expression or function may contribute to immune disorders, such as lysosomal storage diseases and autoimmune diseases. 2. **Neurological disorders**: Dysregulation of VATB2 in GABAergic and glycinergic neurons may contribute to neurological disorders, such as epilepsy and neurodegenerative diseases. 3. **Cancer**: VATB2 may play a role in cancer progression, particularly in the regulation of lysosomal acidification and the processing of antigens. 4. **Pharmacological applications**: Understanding the role of VATB2 in cellular homeostasis may lead to the development of novel therapeutic strategies for various diseases, including immune disorders and neurological disorders. In conclusion, the ATP6V1B2 gene encodes for a crucial component of the V-type proton ATPase complex, which plays a vital role in maintaining cellular homeostasis, regulating acidification, and participating in various signaling pathways. Further research is necessary to elucidate the clinical significance of VATB2 and its potential applications in the treatment of various 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 Ensembl 1 ExpressionAtlas 1 GO 20 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 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 MetOSite 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 3 OrthoDB 1 PANTHER 2 PDB 6 PDBsum 6 PIR 2 PIRSF 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 REPRODUCTION-2DPAGE 1 RNAct 1 Reactome 6 RefSeq 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TCDB 1 TreeFam 1 UCSC 1 UniProtKB 1 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. 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.