VWA8 Gene Summary [Human]
Predicted to enable ATP binding activity. Located in mitochondrion and peroxisome. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | VWA8 |
| Official Name | von Willebrand factor A domain containing 8 [Source:HGNC Symbol;Acc:HGNC:29071] |
| Ensembl ID | ENSG00000102763 |
| Bio databases IDs | |
| Aliases | von Willebrand factor A domain containing 8, Pex7p-binding protein 2 |
| Synonyms | 1300010F03Rik, 4932416F07Rik, KIAA0564, mKIAA0564, P7BP2, RGD1308772, RP97, von Willebrand factor A domain containing 8 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human VWA8 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- AAA domain (dynein-related subfamily)
- von Willebrand factor (vWF) type A domain
- vWFA
- enzyme
- protein binding
- von Willebrand factor type A domain
- ATPase
- P-loop containing Nucleoside Triphosphate Hydrolases
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- COVID-19
- nonsyndromic cleft lip and palate
- tuberculosis
- insulin-dependent diabetes mellitus
- non-insulin-dependent diabetes mellitus
- retinitis pigmentosa type 97
- peripheral arterial disease
regulates
role in cell
- transcription in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Mitochondria
- peroxisomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human VWA8 gene, providing context for its role in the cell.
Cellular Component
Where in the cell the gene product is active
- peroxisome
- cytoplasm
- mitochondrion
Molecular Function
What the gene product does at the molecular level
- ATPase activity
- ATP binding
- protein binding