Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
245972
Gene name Gene Name - the full gene name approved by the HGNC.
ATPase H+ transporting V0 subunit d2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ATP6V0D2
Synonyms (NCBI Gene) Gene synonyms aliases
ATP6D2, VMA6
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8q21.3
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT018085 hsa-miR-335-5p Microarray 18185580
MIRT695697 hsa-miR-1910-3p HITS-CLIP 23313552
MIRT695696 hsa-miR-6511a-5p HITS-CLIP 23313552
MIRT695695 hsa-miR-5690 HITS-CLIP 23313552
MIRT695694 hsa-miR-6746-5p HITS-CLIP 23313552
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 18752060, 32296183
GO:0005765 Component Lysosomal membrane TAS
GO:0005768 Component Endosome IEA
GO:0005769 Component Early endosome IBA
GO:0005769 Component Early endosome IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
618072 18266 ENSG00000147614
Protein
UniProt ID Q8N8Y2
Protein name V-type proton ATPase subunit d 2 (V-ATPase subunit d 2) (Vacuolar proton pump subunit d 2)
Protein function Subunit of the V0 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. V-ATPase is responsible for acidifying a
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01992 vATP-synt_AC39 16 346 ATP synthase (C/AC39) subunit Family
Tissue specificity TISSUE SPECIFICITY: Kidney, osteoclast and lung. {ECO:0000269|PubMed:12384298}.
Sequence
Sequence length 350
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Oxidative phosphorylation
Metabolic pathways
Lysosome
Phagosome
Synaptic vesicle cycle
Collecting duct acid secretion
Vibrio cholerae infection
Epithelial cell signaling in Helicobacter pylori infection
Tuberculosis
Human papillomavirus infection
Viral carcinogenesis
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)
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
Ehlers-Danlos Syndrome Ehlers-Danlos syndrome N/A N/A GenCC
Oligodendroglioma Oligodendroglioma N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Arthritis Rheumatoid Associate 35896699
Bone Resorption Associate 35896699
Breast Neoplasms Associate 31167791
Carcinoma Hepatocellular Associate 33960270
Carcinoma Renal Cell Associate 35945960, 36681680
Cardiovascular Diseases Associate 31682178
Coronary Disease Associate 31682178
Esophageal Neoplasms Associate 27384996
Idiopathic Pulmonary Fibrosis Associate 31941499