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 name Gene Name - the full gene name approved by the HGNC.
ATPase H+ transporting V1 subunit B2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ATP6V1B2
Synonyms (NCBI Gene) Gene synonyms aliases
ATP6B1B2, ATP6B2, DOOD, HO57, VATB, VPP3, Vma2, ZLS2
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8p21.3
Summary Summary 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
SNPs SNP information provided by dbSNP.
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.
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 information of associated ontologies with gene provided by GO database.
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 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
606939 854 ENSG00000147416
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
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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Deafness-Onychodystrophy Syndrome Autosomal dominant deafness - onychodystrophy syndrome rs794729667 N/A
Zimmerman Laband Syndrome zimmermann-laband syndrome 2, zimmermann-laband syndrome 1 rs730882177, rs1135401772 N/A
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
DOORS Syndrome DOORS syndrome N/A N/A GenCC
Epileptic encephalopathy developmental and epileptic encephalopathy 93 N/A N/A GenCC
Neurodevelopmental Disorders neurodevelopmental disorder N/A N/A GenCC
Show/Hide Text Mining Associations (16)
Associations from Text Mining Disease 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