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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
25
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (6)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
ATP6V1B2 related neurodevelopmental disorders Pathogenic rs2128886555 RCV001813609
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal dominant deafness - onychodystrophy syndrome Pathogenic rs794729667 RCV000185602
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental delay Pathogenic rs794729667 RCV002273974
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Zimmermann-Laband syndrome 1 Pathogenic rs730882177 RCV000190318
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (19)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATP6V1B2-related disorder Uncertain significance; Likely benign; Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT DEAFNESS-ONYCHODYSTROPHY SYNDROME — Orphanet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cataract 10 multiple types Uncertain significance ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (63)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
ANONYCHIA Anonychia HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Aplasia Cutis Congenita Aplasia Cutis Congenita HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Autosomal dominant deafness-onychodystrophy syndrome Deafness-Onychodystrophy Syndrome Orphanet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Brachydactyly Brachydactyly HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Byzanthine arch palate High palate HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Cataract Cataract HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Cognition Disorders Cognition disorder Pubtator 27824360 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Congenital Abnormalities Congenital abnormalities Pubtator 36849876 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Deafness Deafness Pubtator 39210597 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Deafness Congenital and Onychodystrophy Autosomal Dominant Deafness with congenital onychodystrophy Pubtator 32873933, 32961450, 33714068, 39210597 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only