ATP6V1B2 (ATPase H+ transporting V1 subunit B2)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 526
Gene name ATPase H+ transporting V1 subunit B2
Gene symbol ATP6V1B2
Synonyms (NCBI Gene)
ATP6B1B2ATP6B2DOODHO57VATBVPP3Vma2ZLS2
Chromosome 8
Chromosome location 8p21.3
Summary 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
SNPs SNP information provided by dbSNP.
7
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (7)
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
miRNA miRNA information provided by mirtarbase database.
987
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (987)
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
36
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (36)
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000221 Component Vacuolar proton-transporting V-type ATPase, V1 domain IDA 33065002
GO:0000221 Component Vacuolar proton-transporting V-type ATPase, V1 domain IEA
GO:0001726 Component Ruffle IEA
GO:0005515 Function Protein binding IPI 25416956, 32814053, 34159380
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
606939 854 ENSG00000147416
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Tissue specificity TISSUE SPECIFICITY: Kidney; localizes to early distal nephron, encompassing thick ascending limbs and distal convoluted tubules (at protein level). {ECO:0000269|PubMed:29993276}.
Sequence 
MALRAMRGIVNGAAPELPVPTGGPAVGAREQALAVSRNYLSQPRLTYKTVSGVNGPLVIL
DHVKFPRYAEIVHLTLPDGTKRSGQVLEVSGSKAVVQVFEGTSGIDAKKTSCEFTGDILR
TPVSEDMLGRVFNGSGKPIDRGPVVLAEDFLDIMGQPINPQCRIYPEEMIQTGISAIDGM
NSIARGQKIPIFSAAGLPHNEIAAQICRQAGLVKKSKDVVDYSEENFAIVFAAMGVNMET
ARFFKSDFEENGSMDNVCLFLNLANDPTIERIITPRLALTTAEFLAYQCEKHVLVILTDM
SSYAEALREVSAAREEVPGRRGFPGYMYTDLATIYERAGRVEGRNGSITQIPILTMPNDD
ITHPIPDLTGYITEGQIYVDRQLHNRQIYPPINVLPSLSRLMKSAIGEGMTRKDHADVSN
QLYACYAIGKDVQAMKAVVGEEALTSDDLLYLEFLQKFERNFIAQGPYENRTVFETLDIG
WQLLRIFPKEMLKRIPQSTLSEFYPRDSAKH
Sequence length 511
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
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 Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (6)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ATP6V1B2 related neurodevelopmental disorders Pathogenic rs2128886555 RCV001813609
Autosomal dominant deafness - onychodystrophy syndrome Pathogenic rs794729667 RCV000185602
Neurodevelopmental delay Pathogenic rs794729667 RCV002273974
Zimmermann-Laband syndrome 1 Pathogenic rs730882177 RCV000190318
Show/Hide Unknown Diseases (4)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ATP6V1B2-related disorder Uncertain significance; Likely benign; Benign rs2486468524, rs2486468480, rs1361764503, rs773659285, rs541896931, rs74929830, rs150784341 RCV003406147
RCV003397583
RCV003421061
RCV003899533
RCV003947118
RCV003959141
RCV003912861
Cataract 10 multiple types Uncertain significance rs368067224 RCV005860413
Hepatocellular carcinoma Benign rs7460146 RCV005916236
Intellectual disability Conflicting classifications of pathogenicity rs376671385 RCV005626772
Show/Hide Text Mining Associations (16)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Cognition Disorders Associate 27824360
Congenital Abnormalities Associate 36849876
COVID 19 Associate 33936072
Deafness Associate 39210597
Deafness Congenital and Onychodystrophy Autosomal Dominant Associate 32873933, 32961450, 33714068, 39210597
Depressive Disorder Associate 27824360
Developmental Disabilities Associate 36849876
Digitorenocerebral Syndrome Associate 39210597
Epilepsy Associate 32873933
Intellectual Disability Associate 32873933