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ATP6V1B2 (ATPase H+ transporting V1 subunit B2)
Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
526
Gene nameGene Name - the full gene name approved by the HGNC.
ATPase H+ transporting V1 subunit B2
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
ATP6V1B2
SynonymsGene synonyms aliases
ATP6B1B2, ATP6B2, DOOD, HO57, VATB, VPP3, Vma2, ZLS2
ChromosomeChromosome number
8
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8p21.3
SummarySummary of gene provided in NCBI Entrez Gene.
This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sort
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
SNP ID Visualize variation Clinical significance Consequence
rs730882177 G>C Pathogenic Missense variant, non coding transcript variant, coding sequence variant
rs794729667 C>T Pathogenic Non coding transcript variant, coding sequence variant, stop gained
rs1057517879 TTG>- Likely-pathogenic Inframe deletion, non coding transcript variant, coding sequence variant
rs1131691864 G>A Likely-pathogenic Missense variant, non coding transcript variant, coding sequence variant
rs1135401772 G>C Likely-pathogenic Missense variant, non coding transcript variant, coding sequence variant
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
miRTarBase ID miRNA Experiments Reference
MIRT003524 hsa-miR-1-3p Luciferase reporter assay 20144220
MIRT003524 hsa-miR-1-3p Luciferase reporter assay 20144220
MIRT003524 hsa-miR-1-3p Proteomics 18668040
MIRT003524 hsa-miR-1-3p Proteomics;Microarray 18668037
MIRT028603 hsa-miR-30a-5p Proteomics 18668040
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0001726 Component Ruffle IEA
GO:0005515 Function Protein binding IPI 25416956, 32814053
GO:0005524 Function ATP binding IEA
GO:0005765 Component Lysosomal membrane HDA 17897319
GO:0005829 Component Cytosol ISS
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P21281
Protein name V-type proton ATPase subunit B, brain isoform (V-ATPase subunit B 2) (Endomembrane proton pump 58 kDa subunit) (HO57) (Vacuolar proton pump subunit B 2)
Protein function Non-catalytic subunit of the V1 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons (PubMed:33065002). V-ATPase
PDB 6WLZ , 6WM2 , 6WM3 , 6WM4 , 7U4T , 7UNF
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02874 ATP-synt_ab_N
50 → 116
ATP synthase alpha/beta family, beta-barrel domain
 Domain
PF00006 ATP-synt_ab
173 → 399
ATP synthase alpha/beta family, nucleotide-binding domain
 Domain
Sequence 
MALRAMRGIVNGAAPELPVPTGGPAVGAREQALAVSRNYLSQPRLTYKTVSGVNGPLVIL
DHVKFPRYAEIVHLTLPDGTKRSGQVLEVSGSKAVVQVFEGTSGIDAKKTSCEFTGDILR
TPVSEDMLGRVFNGSGKPIDRGPVVLAEDFLDIMGQPINPQCRIYPEEMIQTGISAIDGM
NSIARGQKIPIFSAAGLPHNEIAAQICRQAGLVKKSKDVVDYSEENFAIVFAAMGVNMET
ARFFKSDFEENGSMDNVCLFLNLANDPTIERIITPRLALTTAEFLAYQCEKHVLVILTDM
SSYAEALREVSAAREEVPGRRGFPGYMYTDLATIYERAGRVEGRNGSITQIPILTMPNDD
ITHPIPDLTGYITEGQIYVDRQLHNRQIYPPINVLPSLSRLMKSAIGEGMTRKDHADVSN
QLYACYAIGKDVQAMKAVVGEEALTSDDLLYLEFLQKFERNFIAQGPYENRTVFETLDIG
WQLLRIFPKEMLKRIPQSTLSEFYPRDSAKH
Sequence length 511
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
 
KEGG
  
Reactome
  Oxidative phosphorylation
Metabolic pathways
Phagosome
mTOR signaling pathway
Synaptic vesicle cycle
Collecting duct acid secretion
Vibrio cholerae infection
Epithelial cell signaling in Helicobacter pylori infection
Human papillomavirus infection
Rheumatoid arthritis 		  ROS and RNS production in phagocytes
Insulin receptor recycling
Transferrin endocytosis and recycling
Amino acids regulate mTORC1
Ion channel transport
Associated diseases
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Anonychia ANONYCHIA rs74315420, rs74315421, rs74315422, rs74315423, rs387907026, rs387907027, rs387907028, rs780261665, rs775644973, rs370554150
Aplasia cutis congenita Aplasia Cutis Congenita rs587777706
Arthritis Degenerative polyarthritis rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470 18784066
Brachydactyly Brachydactyly rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852, rs121917853, rs121917854, rs121917855, rs121917859, rs121917861, rs267606873, rs267606872, rs267606985, rs267606986, rs267606987, rs267606988, rs28933082, rs397514519, rs869025613, rs869025614, rs886039878, rs1553540620, rs1057518333, rs1948841937, rs1948868228, rs1948842030, rs1948842142
Unknown
Disease name Disease term dbSNP ID References
Dolichocephaly Long narrow head
Dwarfism Dwarfism
Hidrotic ectodermal dysplasia Hidrotic Ectodermal Dysplasia
High palate Byzanthine arch palate

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