Previous symbols: ATP6IP2. Aliases: PRR, M8-9, RENR, (P)RR, APT6M8-9, ATP6M8-9.
ai-gene-review has this gene at status DRAFT; the description is shown only once the review is complete. Read the draft upstream.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Congenital Disorder of Glycosylation Type IIr | causative germline partial loss of function |
mechanism: Hemizygous ATP6AP2 Missense Variants; Impaired ATP6AP2 Stability and ATP6AP1 Interaction
|
| Granular Cell Tumor |
untyped
Somatic Inactivating (Loss-of-Function) Mutations
|
An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.
| ClinGen disease | MOI | Classification | dismech entry |
|---|---|---|---|
| ATP6AP2-related disorder MONDO:0100146 | XL | Definitive 2020-09-14 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.