Gene
abca4b
- ID
- ZDB-GENE-050517-4
- Name
- ATP-binding cassette, sub-family A (ABC1), member 4b
- Symbol
- abca4b Nomenclature History
- Previous Names
-
- si:ch211-195i6.4 (1)
- Type
- protein_coding_gene
- Location
- Chr: 2 Mapping Details/Browsers
- Description
- Predicted to enable ATPase-coupled intramembrane lipid transporter activity; ATPase-coupled transmembrane transporter activity; and phospholipid transporter activity. Predicted to be involved in lipid transport. Predicted to act upstream of or within transmembrane transport. Predicted to be located in membrane. Predicted to be active in intracellular membrane-bounded organelle. Human ortholog(s) of this gene implicated in fundus dystrophy and retinal degeneration (multiple). Orthologous to human ABCA4 (ATP binding cassette subfamily A member 4).
- 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 |
|---|---|---|---|
| age related macular degeneration 2 | Alliance | {Macular degeneration, age-related, 2} | 153800 |
| cone-rod dystrophy 3 | Alliance | Cone-rod dystrophy 3 | 604116 |
| retinitis pigmentosa 19 | Alliance | Retinitis pigmentosa 19 | 601718 |
| Stargardt disease | Alliance | Fundus flavimaculatus | 248200 |
| Stargardt disease | Alliance | Retinal dystrophy, early-onset severe | 248200 |
| Stargardt disease | Alliance | Stargardt disease 1 | 248200 |
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 |
| Family | IPR026082 | ABC transporter A |
| Homologous_superfamily | IPR027417 | P-loop containing nucleoside triphosphate hydrolase |
Domain Details Per Protein
| Protein | Length | AAA+ ATPase domain | ABC-2 type transporter, transmembrane domain | ABC transporter A | ABC transporter-like, ATP-binding domain | ABC transporter-like, conserved site | P-loop containing nucleoside triphosphate hydrolase |
|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M2BAC9
|
2305 | ||||||
|
UniProtKB:F1R045
|
2327 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
abca4b-201
(1)
|
Ensembl | 6,639 nt | ||
| mRNA |
abca4b-202
(1)
|
Ensembl | 7,493 nt |
Interactions and Pathways
No data available
Plasmids
No data available