AMPD2 Gene Summary [Human]
The protein encoded by this gene is important in purine metabolism by converting AMP to IMP. The encoded protein, which acts as a homotetramer, is one of three AMP deaminases found in mammals. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
Details
| Type | Processed Transcript |
| Official Symbol | AMPD2 |
| Official Name | adenosine monophosphate deaminase 2 [Source:HGNC Symbol;Acc:HGNC:469] |
| Ensembl ID | ENSG00000116337 |
| Bio databases IDs | |
| Aliases | adenosine monophosphate deaminase 2, AMPD isoform L |
| Synonyms | 1200014F01Rik, adenosine monophosphate deaminase 2, AMPD, m4521Dajl, PCH9, SPG63 |
| 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 AMPD2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- AMP deaminase
- enzyme
- protein binding
- metallo-dependent_hydrolases
- identical protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- pontocerebellar hypoplasia type 9
- non-syndromic congenital pontocerebellar hypoplasia
- hereditary disorder
- proteinuria
- autosomal recessive spastic paraplegia type 63
- hereditary spastic ataxia
role in cell
- effacement
- development
- translation 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
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human AMPD2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cyclic purine nucleotide metabolic process
- IMP salvage
- AMP metabolic process
- energy homeostasis
- IMP biosynthetic process
Cellular Component
Where in the cell the gene product is active
- cytosol
Molecular Function
What the gene product does at the molecular level
- AMP deaminase activity
- protein binding
- metal ion binding