Gene Gene information from NCBI Gene database.
Entrez ID 245972
Gene name ATPase H+ transporting V0 subunit d2
Gene symbol ATP6V0D2
Synonyms (NCBI Gene)
ATP6D2VMA6
Chromosome 8
Chromosome location 8q21.3
miRNA miRNA information provided by mirtarbase database.
289
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
618072 18266 ENSG00000147614
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
6
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Benign rs55838745 RCV005923770
Hepatocellular carcinoma Benign rs150698519 RCV005906254
Ovarian serous cystadenocarcinoma Benign rs55838745 RCV005923772
Sarcoma Benign rs55838745 RCV005923771
Associations from Text MiningDisease 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