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 have ATPase-coupled intramembrane lipid transporter activity; ATPase-coupled transmembrane transporter activity; and phospholipid transporter activity. Predicted to be involved in lipid transport. Predicted to localize to 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