Gene
atpaf2
- ID
- ZDB-GENE-050411-18
- Name
- ATP synthase mitochondrial F1 complex assembly factor 2
- Symbol
- atpaf2 Nomenclature History
- Previous Names
-
- im:6893748
- Type
- protein_coding_gene
- Location
- Chr: 12 Mapping Details/Browsers
- Description
- Predicted to be involved in proton-transporting ATP synthase complex assembly. Human ortholog(s) of this gene implicated in mitochondrial complex V (ATP synthase) deficiency, nuclear type 1. Orthologous to human ATPAF2 (ATP synthase mitochondrial F1 complex assembly factor 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:6893748 (1 image)
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 |
|---|---|---|---|
| mitochondrial complex V (ATP synthase) deficiency nuclear type 1 | Alliance | ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 | 604273 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | ATP12, ATP synthase F1-assembly protein | ATP12, ATP synthase F1-assembly protein, N-terminal | ATP12 orthogonal Bundle domain superfamily |
|---|---|---|---|---|
|
UniProtKB:A3KP55
|
291 |
| Type | Name | Annotation Method | Length (nt) | Analysis |
|---|---|---|---|---|
| mRNA |
atpaf2-201
(1)
|
Havana | 1445 nt | |
| mRNA |
atpaf2-202
(1)
|
Havana | 726 nt | |
| ncRNA |
atpaf2-002
(1)
|
Havana | 996 nt | |
| ncRNA |
atpaf2-004
(1)
|
Havana | 748 nt | |
| ncRNA |
atpaf2-005
(1)
|
Havana | 883 nt |
Interactions and Pathways
No data available
Plasmids
No data available