Atp6ap2 Gene Summary [Mouse]
Predicted to enable signaling receptor activity. Involved in central nervous system maturation; positive regulation of Wnt signaling pathway; and synaptic vesicle lumen acidification. Located in endosome membrane and lysosomal membrane. Is expressed in brain; extraembryonic component; intestine; neural retina; and renal cortex. Human ortholog(s) of this gene implicated in X-linked parkinsonism-spasticity syndrome; congenital disorder of glycosylation type IIr; and syndromic X-linked intellectual disability Hedera type. Orthologous to human ATP6AP2 (ATPase H+ transporting accessory protein 2). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Retained Intron |
| Official Symbol | Atp6ap2 |
| Official Name | ATPase, H+ transporting, lysosomal accessory protein 2 [Source:MGI Symbol;Acc:MGI:1917745] |
| Ensembl ID | ENSMUSG00000031007 |
| Bio databases IDs | |
| Aliases | ATPase, H+ transporting, lysosomal accessory protein 2 |
| Synonyms | 5730403E06Rik, APT6M8-9, ATP6IP2, ATP6M8-9, ATPase H+ transporting accessory protein 2, ATPase, H+ transporting, lysosomal accessory protein 2, CDG2R, ELDF10, HT028, M8-9, MRXE, MRXSH, MSTP009, N14F, Prorenin/Renin Receptor, PRR, (P)RR, PSEC0072, RENIN receptor, RENR, XMRE, XPDS |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Atp6ap2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Renin receptor-like protein
- protein binding
- furin cleavage site
- transporter
Pathways
Biological processes and signaling networks where the Atp6ap2 gene in mouse plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- diabetic nephropathy
- X linked mental retardation syndromic with epilepsy
- hypertension
- hepatic steatosis
- congenital disorder of glycosylation type 2R
- interstitial nephritis
- Huntington disease
- X linked parkinsonism with spasticity
- obesity
- chronic kidney disease
role in cell
- expression in
- apoptosis
- phosphorylation in
- production in
- accumulation in
- tyrosine phosphorylation in
- quantity
- necroptosis
- number
- accumulation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- synaptic vesicle membrane
- cell surface
- Extracellular Space
- intracellular space
- cellular membrane
- Plasma Membrane
- lysosome
- Golgi Apparatus
- secretory granule membrane
- tertiary granule membrane
- cytosol
- endoplasmic reticulum membrane
- plasma membrane extracellular face
- apical membrane
- lysosome membrane
- endosomal membrane
- perikaryon
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Atp6ap2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of MAPK cascade
- central nervous system maturation
- rostrocaudal neural tube patterning
- lysosomal lumen acidification
- positive regulation of canonical Wnt receptor signaling pathway
- vacuolar acidification
- head morphogenesis
- angiotensin maturation
- positive regulation of transforming growth factor beta1 production
- intracellular pH reduction
- endosomal lumen acidification
- eye pigmentation
- positive regulation of Wnt receptor signaling pathway
Cellular Component
Where in the cell the gene product is active
- proton-transporting V-type ATPase complex
- dendritic spine membrane
- external side of plasma membrane
- Golgi membrane
- plasma membrane
- lysosomal membrane
- autophagic vacuole membrane
- lysosome
- endoplasmic reticulum membrane
- vacuolar proton-transporting V-type ATPase, V0 domain
- extracellular vesicular exosome
- postsynaptic membrane
- membrane
- vacuolar proton-transporting V-type ATPase complex
- endosome membrane
- synaptic vesicle membrane
- axon
- tertiary granule membrane
- clathrin coated vesicle membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- signaling receptor activity