ATP6AP2
ATPase H+ Transporting Accessory Protein 2
Gene Information Card
| Symbol | ATP6AP2 |
|---|---|
| Full Name | ATPase H+ Transporting Accessory Protein 2 |
| Gene Type | Protein coding |
| Chromosomal Location | Xp11.4 |
| NCBI Gene ID | 10159 ncbi.nlm.nih.gov/gene/10159 |
| Ensembl ID | ENSG00000182220 |
| UniProt ID | O75787 |
| OMIM ID | 300556 |
| HGNC ID | 18305 |
| Aliases | ATP6IP2, CAPER, ELDF10, M8-9, PRR, RENR, V-ATPase M8.9 subunit |
Description
ATP6AP2 encodes a transmembrane protein that functions as an accessory subunit of the vacuolar ATPase (V-ATPase) and as a receptor for renin and prorenin. It is essential for V-ATPase assembly and acidification of intracellular compartments, and plays roles in cellular signaling, autophagy, and lysosomal function. Mutations in ATP6AP2 are associated with X-linked intellectual disability, epilepsy, and parkinsonism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| X-linked parkinsonism with spasticity (XPDS) | Loss-of-function mutations impair V-ATPase activity, leading to lysosomal dysfunction and neurodegeneration. | ClinVar, OMIM |
| X-linked intellectual disability (XLID) | Missense and nonsense mutations disrupt protein function, affecting neuronal development and synaptic plasticity. | ClinVar, OMIM |
| Congenital disorder of glycosylation type IIs (ATP6AP2-CDG) | Defective V-ATPase impairs Golgi pH homeostasis, causing abnormal glycosylation. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | Medium |
| Kidney | 8.7 | Medium |
| Liver | 6.5 | Low |
| Heart | 5.2 | Low |
| Testis | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| SH-SY5Y | 11.8 | Neuronal model |
| HepG2 | 7.4 | Hepatocyte model |
| HeLa | 6.9 | Cervical cancer line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.321C>A (p.Cys107*) | Nonsense | Rare | Loss of function; truncation of protein |
| c.445C>T (p.Arg149Trp) | Missense | Rare | Impaired V-ATPase binding |
| c.1A>G (p.Met1?) | Start loss | Rare | Complete loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent protein, reducing V-ATPase activity and causing lysosomal dysfunction.
Gain of Function (GOF)
Not reported for ATP6AP2.
Dominant Negative (DN)
Not reported for ATP6AP2.
View complete mutation data：
Gene Ontology (GO)
| • V-ATPase V0 domain | • Renin receptor activity |
| • Proton transmembrane transport | • Lysosomal acidification |
| • Autophagy | • Positive regulation of MAPK cascade |
Pathways
• Vacuolar ATPase assembly and function
• Renin-angiotensin system
• Lysosome
Protein Summary
ATP6AP2 is a 350-amino acid transmembrane protein with a single transmembrane domain. It is a component of the V-ATPase V0 complex, essential for proton transport and organelle acidification. The extracellular domain binds renin and prorenin, activating signaling pathways independent of angiotensin II. The protein is ubiquitously expressed, with highest levels in brain and kidney.
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