Gene
atp6ap2
- ID
- ZDB-GENE-040426-1960
- Name
- ATPase H+ transporting accessory protein 2
- Symbol
- atp6ap2 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 22 Mapping Details/Browsers
- Description
- Predicted to have signaling receptor activity. Involved in intrahepatic bile duct development. Predicted to localize to external side of plasma membrane. Human ortholog(s) of this gene implicated in syndromic X-linked intellectual disability Hedera type. Is expressed in central nervous system; digestive system; mucus secreting cell; notochord; and yolk syncytial layer. Orthologous to human ATP6AP2 (ATPase H+ transporting accessory protein 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 10 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:73194 (7 images)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| syndromic X-linked intellectual disability Hedera type | Alliance | Intellectual developmental disorder, X-linked syndromic, Hedera type | 300423 |
| X-linked parkinsonism-spasticity syndrome | Alliance | ?Parkinsonism with spasticity, X-linked | 300911 |
| Congenital disorder of glycosylation, type IIr | 301045 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR012493 | Renin receptor-like |
Domain Details Per Protein
| Protein | Length | Renin receptor-like |
|---|---|---|
|
UniProtKB:A0A286YA30
|
398 | |
|
UniProtKB:F1QIH1
|
386 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
atp6ap2-201
(1)
|
Ensembl | 841 nt | ||
| mRNA |
atp6ap2-202
(1)
|
Ensembl | 1,619 nt | ||
| mRNA |
atp6ap2-203
(1)
|
Ensembl | 658 nt | ||
| mRNA |
atp6ap2-204
(1)
|
Ensembl | 1,731 nt |
Interactions and Pathways
No data available
Plasmids
No data available