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 have ATPase-coupled intramembrane lipid transporter activity. Predicted to be involved in phospholipid translocation. Predicted to localize to plasma membrane and trans-Golgi network. Human ortholog(s) of this gene implicated in cerebellar ataxia, mental retardation and dysequlibrium syndrome. 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
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| cerebellar ataxia, mental retardation and dysequlibrium syndrome | Alliance | Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 | 615268 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR032630 | P-type ATPase, C-terminal |
| Domain | IPR032631 | P-type ATPase, N-terminal |
| Domain | IPR044492 | P-type ATPase, haloacid dehalogenase domain |
| Family | IPR001757 | P-type ATPase |
| Family | IPR006539 | P-type ATPase, subfamily IV |
| Homologous_superfamily | IPR008250 | P-type ATPase, A domain superfamily |
| Homologous_superfamily | IPR023214 | HAD superfamily |
| Homologous_superfamily | IPR023298 | P-type ATPase, transmembrane domain superfamily |
| Homologous_superfamily | IPR023299 | P-type ATPase, cytoplasmic domain N |
| Homologous_superfamily | IPR036412 | HAD-like superfamily |
| PTM | IPR018303 | P-type ATPase, phosphorylation site |
Domain Details Per Protein
| Protein | 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
|
1167 | |||||||||||
|
UniProtKB:A0A8M9Q859
|
1152 | |||||||||||
|
UniProtKB:A0A8M9PQZ5
|
1211 | |||||||||||
|
UniProtKB:A0A8M2B9T5
|
1177 | |||||||||||
|
UniProtKB:A0A8M9P645
|
1156 | |||||||||||
|
UniProtKB:A0A8M9PX52
|
1189 | |||||||||||
|
UniProtKB:A0A8M3B6P3
|
1177 | |||||||||||
|
UniProtKB:X1WCP3
|
1211 | |||||||||||
|
UniProtKB:A0A8M9Q856
|
1177 | |||||||||||
|
UniProtKB:A0A8M9PR00
|
1156 | |||||||||||
|
UniProtKB:A0A8M9Q410
|
1177 | |||||||||||
|
UniProtKB:A0A8M3AP86
|
1152 | |||||||||||
|
UniProtKB:A0A8M1RFW8
|
1189 | |||||||||||
|
UniProtKB:A0A8M2B9Q6
|
1167 | |||||||||||
|
UniProtKB:A0A8M6YVQ8
|
1179 |
| Type | Name | Annotation Method | Length (nt) | Analysis |
|---|---|---|---|---|
| mRNA |
atp8a2-201
(1)
|
Havana | 5152 nt | |
| mRNA |
atp8a2-202
(1)
|
Havana | 558 nt |
Interactions and Pathways
No data available
Plasmids
No data available