Gene
ampd2a
- ID
- ZDB-GENE-091204-4
- Name
- adenosine monophosphate deaminase 2a
- Symbol
- ampd2a Nomenclature History
- Previous Names
-
- si:ch211-103a14.2
- Type
- protein_coding_gene
- Location
- Chr: 22 Mapping Details/Browsers
- Description
- Predicted to have AMP deaminase activity. Predicted to be involved in AMP metabolic process and IMP biosynthetic process. Predicted to localize to cytosol. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia 63 and pontocerebellar hypoplasia type 9. Orthologous to human AMPD2 (adenosine monophosphate deaminase 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| hereditary spastic paraplegia 63 | Alliance | ?Spastic paraplegia 63, autosomal recessive | 615686 |
| pontocerebellar hypoplasia type 9 | Alliance | Pontocerebellar hypoplasia, type 9 | 615809 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Adenosine/AMP deaminase active site | AMP deaminase | Metal-dependent hydrolase |
|---|---|---|---|---|
|
UniProtKB:A0A8M1REB8
|
823 | |||
|
UniProtKB:A0A8M3AUC9
|
796 | |||
|
UniProtKB:A0A8M3ALY9
|
783 | |||
|
UniProtKB:A0A8M3AXB7
|
800 | |||
|
UniProtKB:A0A8M3AMN9
|
809 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
ampd2a-201
(1)
|
Ensembl | 2,389 nt | ||
| mRNA |
ampd2a-202
(1)
|
Ensembl | 2,310 nt |
Interactions and Pathways
No data available
Plasmids
No data available