Gene
abca2
- ID
- ZDB-GENE-050517-1
- Name
- ATP-binding cassette, sub-family A (ABC1), member 2
- Symbol
- abca2 Nomenclature History
- Previous Names
-
- si:dkey-266h7.1
- Type
- protein_coding_gene
- Location
- Chr: 5 Mapping Details/Browsers
- Description
- Predicted to enable ABC-type transporter activity; ATP binding activity; and ATP hydrolysis activity. Predicted to be involved in positive regulation of protein metabolic process and regulation of macromolecule biosynthetic process. Predicted to act upstream of or within transmembrane transport. Predicted to be located in endosome membrane and lysosomal membrane. Orthologous to human ABCA2 (ATP binding cassette subfamily A member 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 |
|---|---|---|---|
| Intellectual developmental disorder with poor growth and with or without seizures or ataxia | 618808 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR017871 | ABC transporter-like, conserved site |
| Domain | IPR003439 | ABC transporter-like, ATP-binding domain |
| Domain | IPR003593 | AAA+ ATPase domain |
| Domain | IPR013525 | ABC-2 type transporter, transmembrane domain |
| Domain | IPR056264 | ABCA1-4-like, C-terminal R2 regulatory domain |
| Family | IPR026082 | ABC transporter A |
| Homologous_superfamily | IPR027417 | P-loop containing nucleoside triphosphate hydrolase |
Domain Details Per Protein
| Protein | Additional Resources | Length | AAA+ ATPase domain | ABC-2 type transporter, transmembrane domain | ABCA1-4-like, C-terminal R2 regulatory domain | ABC transporter A | ABC transporter-like, ATP-binding domain | ABC transporter-like, conserved site | P-loop containing nucleoside triphosphate hydrolase |
|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M2BCG2 | InterPro | 2504 | |||||||
| UniProtKB:A0A8M2BCJ8 | InterPro | 2503 | |||||||
| UniProtKB:A0A8M2BCH1 | InterPro | 2503 | |||||||
| UniProtKB:A0AB32TQ63 | InterPro | 2502 |
Interactions and Pathways
No data available
Plasmids
No data available