Human Gene ATP6V1B2 (ENST00000276390.7_5) from GENCODE V47lift37
  Description: ATPase H+ transporting V1 subunit B2 (from RefSeq NM_001693.4)
Gencode Transcript: ENST00000276390.7_5
Gencode Gene: ENSG00000147416.12_11
Transcript (Including UTRs)
   Position: hg19 chr8:20,054,892-20,079,207 Size: 24,316 Total Exon Count: 14 Strand: +
Coding Region
   Position: hg19 chr8:20,054,918-20,077,913 Size: 22,996 Coding Exon Count: 14 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr8:20,054,892-20,079,207)mRNA (may differ from genome)Protein (511 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: VATB2_HUMAN
DESCRIPTION: RecName: Full=V-type proton ATPase subunit B, brain isoform; Short=V-ATPase subunit B 2; AltName: Full=Endomembrane proton pump 58 kDa subunit; AltName: Full=HO57; AltName: Full=Vacuolar proton pump subunit B 2;
FUNCTION: Non-catalytic subunit of the peripheral V1 complex of vacuolar ATPase. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells.
SUBUNIT: V-ATPase is a heteromultimeric enzyme composed of a peripheral catalytic V1 complex (main components: subunits A, B, C, D, E, and F) attached to an integral membrane V0 proton pore complex (main component: the proteolipid protein).
SUBCELLULAR LOCATION: Endomembrane system; Peripheral membrane protein. Melanosome. Note=Endomembrane. Identified by mass spectrometry in melanosome fractions from stage I to stage IV.
SIMILARITY: Belongs to the ATPase alpha/beta chains family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ATP6V1B2
Diseases sorted by gene-association score: zimmermann-laband syndrome 2* (1329), deafness, congenital, with onychodystrophy, autosomal dominant* (1269), zimmermann-laband syndrome 1* (283), zimmermann-laband syndrome* (275), tooth agenesis (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 130.05 RPKM in Brain - Frontal Cortex (BA9)
Total median expression: 1959.58 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -1.8026-0.069 Picture PostScript Text
3' UTR -370.201294-0.286 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR020003 - ATPase_a/bsu_AS
IPR004100 - ATPase_a/bsu_N
IPR000793 - ATPase_F1/V1/A1-cplx_a/bsu_C
IPR000194 - ATPase_F1/V1/A1_a/bsu_nucl-bd
IPR005723 - ATPase_V1-cplx_bsu
IPR022879 - V-ATPase_su_B/beta

Pfam Domains:
PF00006 - ATP synthase alpha/beta family, nucleotide-binding domain
PF02874 - ATP synthase alpha/beta family, beta-barrel domain

SCOP Domains:
47917 - C-terminal domain of alpha and beta subunits of F1 ATP synthase
52540 - P-loop containing nucleoside triphosphate hydrolases

ModBase Predicted Comparative 3D Structure on P21281
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0015078 hydrogen ion transmembrane transporter activity
GO:0016787 hydrolase activity
GO:0046961 proton-transporting ATPase activity, rotational mechanism

Biological Process:
GO:0006811 ion transport
GO:0008286 insulin receptor signaling pathway
GO:0015991 ATP hydrolysis coupled proton transport
GO:0016241 regulation of macroautophagy
GO:0033572 transferrin transport
GO:0034220 ion transmembrane transport
GO:0046034 ATP metabolic process
GO:1902600 hydrogen ion transmembrane transport

Cellular Component:
GO:0001726 ruffle
GO:0005737 cytoplasm
GO:0005765 lysosomal membrane
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0005902 microvillus
GO:0012505 endomembrane system
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0033180 proton-transporting V-type ATPase, V1 domain
GO:0042470 melanosome
GO:0043209 myelin sheath
GO:0043231 intracellular membrane-bounded organelle
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  HM005605 - Homo sapiens clone HTL-S-65 testicular secretory protein Li 65 mRNA, complete cds.
AK294163 - Homo sapiens cDNA FLJ51779 complete cds, highly similar to Vacuolar ATP synthase subunit B, brain isoform (EC 3.6.3.14).
BC030640 - Homo sapiens ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2, mRNA (cDNA clone MGC:26702 IMAGE:4821062), complete cds.
AK312372 - Homo sapiens cDNA, FLJ92695, Homo sapiens ATPase, H+ transporting, lysosomal 56/58kDa, V1subunit B, isoform 2 (ATP6V1B2), mRNA.
X62949 - H.sapiens mRNA for isoform 2 of vacuolar H+ATPase Mr 56,000 subunit.
BC003100 - Homo sapiens ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2, mRNA (cDNA clone MGC:1797 IMAGE:3502278), complete cds.
AK298819 - Homo sapiens cDNA FLJ53854 complete cds, highly similar to Vacuolar ATP synthase subunit B, brain isoform (EC 3.6.3.14).
AB208806 - Homo sapiens mRNA for ATPase, H+ transporting, lysosomal 56/58kD, V1 subunit B, isoform 2 variant protein.
L35249 - Homo sapiens vacuolar H+-ATPase Mr 56,000 subunit (HO57) mRNA, complete cds.
CU688958 - Synthetic construct Homo sapiens gateway clone IMAGE:100019738 5' read ATP6V1B2 mRNA.
DQ895023 - Synthetic construct Homo sapiens clone IMAGE:100009483; FLH180433.01L; RZPDo839C03133D ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2 (ATP6V1B2) gene, encodes complete protein.
KJ890740 - Synthetic construct Homo sapiens clone ccsbBroadEn_00134 ATP6V1B2 gene, encodes complete protein.
KJ896479 - Synthetic construct Homo sapiens clone ccsbBroadEn_05873 ATP6V1B2 gene, encodes complete protein.
DQ891837 - Synthetic construct clone IMAGE:100004467; FLH180437.01X; RZPDo839C03134D ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2 (ATP6V1B2) gene, encodes complete protein.
BC007309 - Homo sapiens ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2, mRNA (cDNA clone IMAGE:3352651), partial cds.
M60346 - Human H+-ATPase B subunit mRNA, 3'end.
JD022319 - Sequence 3343 from Patent EP1572962.
JD034285 - Sequence 15309 from Patent EP1572962.
AK127443 - Homo sapiens cDNA FLJ45535 fis, clone BRTHA2031800.
JD399171 - Sequence 380195 from Patent EP1572962.
JD188201 - Sequence 169225 from Patent EP1572962.
JD464585 - Sequence 445609 from Patent EP1572962.
JD081551 - Sequence 62575 from Patent EP1572962.
JD565793 - Sequence 546817 from Patent EP1572962.
JD507195 - Sequence 488219 from Patent EP1572962.
JD341719 - Sequence 322743 from Patent EP1572962.
JD068179 - Sequence 49203 from Patent EP1572962.
JD044556 - Sequence 25580 from Patent EP1572962.
JD082873 - Sequence 63897 from Patent EP1572962.
JD268223 - Sequence 249247 from Patent EP1572962.
JD359068 - Sequence 340092 from Patent EP1572962.
JD419889 - Sequence 400913 from Patent EP1572962.
JD147005 - Sequence 128029 from Patent EP1572962.
JD533509 - Sequence 514533 from Patent EP1572962.
JD548894 - Sequence 529918 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY-7980 - ATP biosynthesis

Reactome (by CSHL, EBI, and GO)

Protein P21281 (Reactome details) participates in the following event(s):

R-HSA-5252133 ATP6AP1 binds V-ATPase
R-HSA-1222516 Intraphagosomal pH is lowered to 5 by V-ATPase
R-HSA-74723 Endosome acidification
R-HSA-917841 Acidification of Tf:TfR1 containing endosome
R-HSA-77387 Insulin receptor recycling
R-HSA-917977 Transferrin endocytosis and recycling
R-HSA-983712 Ion channel transport
R-HSA-74752 Signaling by Insulin receptor
R-HSA-917937 Iron uptake and transport
R-HSA-382551 Transport of small molecules
R-HSA-1222556 ROS, RNS production in phagocytes
R-HSA-9006934 Signaling by Receptor Tyrosine Kinases
R-HSA-168249 Innate Immune System
R-HSA-162582 Signal Transduction
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: ATP6B2, B2R5Z3, D3DSQ5, ENST00000276390.1, ENST00000276390.2, ENST00000276390.3, ENST00000276390.4, ENST00000276390.5, ENST00000276390.6, NM_001693, P21281, Q14544, Q15859, Q96IR0, uc317jkf.1, uc317jkf.2, VATB2_HUMAN, VPP3
UCSC ID: ENST00000276390.7_5
RefSeq Accession: NM_001693.4
Protein: P21281 (aka VATB2_HUMAN or VAB2_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.