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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
11
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)
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
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EHLERS-DANLOS SYNDROME Disgenet, GenCC
Disgenet, GenCC
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 35896699 Associate
★☆☆☆☆
Found in Text Mining only
Bone Resorption Bone resorption Pubtator 35896699 Associate
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 31167791 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 33960270 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 35945960, 36681680 Associate
★☆☆☆☆
Found in Text Mining only
Cardiovascular Diseases Cardiovascular disease Pubtator 31682178 Associate
★☆☆☆☆
Found in Text Mining only
Coronary Disease Coronary artery disease Pubtator 31682178 Associate
★☆☆☆☆
Found in Text Mining only
Corpus Luteum Cyst Corpus Luteum Cyst CTD_human_DG 21239663
★☆☆☆☆
Found in Text Mining only
Cutis Laxa Cutis Laxa BEFREE 27023906
★☆☆☆☆
Found in Text Mining only
Esophageal Neoplasms Esophageal neoplasm Pubtator 27384996 Associate
★☆☆☆☆
Found in Text Mining only