Gene
atp8a2
- ID
- ZDB-GENE-100209-2
- Name
- ATPase phospholipid transporting 8A2
- Symbol
- atp8a2 Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 24 Mapping Details/Browsers
- Description
- Predicted to enable ATPase-coupled intramembrane lipid transporter activity. Predicted to be involved in neuron development and phospholipid translocation. Predicted to act upstream of or within phospholipid transport. Predicted to be located in membrane. Predicted to be active in plasma membrane and trans-Golgi network. Human ortholog(s) of this gene implicated in cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4. Orthologous to human ATP8A2 (ATPase phospholipid transporting 8A2).
- 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
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa16737 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa18465 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa18573 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa24493 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa25213 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa39447 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 | Alliance | Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 | 615268 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | HAD-like superfamily | HAD superfamily | P-type ATPase | P-type ATPase, A domain superfamily | P-type ATPase, C-terminal | P-type ATPase, cytoplasmic domain N | P-type ATPase, haloacid dehalogenase domain | P-type ATPase, N-terminal | P-type ATPase, phosphorylation site | P-type ATPase, subfamily IV | P-type ATPase, transmembrane domain superfamily |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M9PE87 | InterPro | 1167 | |||||||||||
| UniProtKB:A0A8M9Q859 | InterPro | 1152 | |||||||||||
| UniProtKB:A0A8M9PQZ5 | InterPro | 1211 | |||||||||||
| UniProtKB:A0A8M2B9T5 | InterPro | 1177 | |||||||||||
| UniProtKB:A0A8M9P645 | InterPro | 1156 |
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- Genome Browsers
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
atp8a2-201
(1)
|
Ensembl | 5,152 nt | ||
| mRNA |
atp8a2-202
(1)
|
Ensembl | 558 nt | ||
| mRNA |
atp8a2-203
(1)
|
Ensembl | 3,636 nt | ||
| mRNA |
atp8a2-204
(1)
|
Ensembl | 3,597 nt | ||
| mRNA |
atp8a2-205
(1)
|
Ensembl | 3,627 nt |
1 - 5 of 8 Show all
Interactions and Pathways
No data available
Plasmids
No data available