ATP13A2

ATPase cation transporting 13A2

3 disorders 2 untyped 1 causative 1p36.13 gene with protein product

HGNC:30213 Monarch NCBI Gene 23400 ENSG00000159363 UniProt Q9NQ11 OMIM 610513

Previous symbols: PARK9. Aliases: HSA9947, CLN12.

Normal function · from ai-gene-review (Q9NQ11, commit 79fe13b38970) · AI-generated, not KB evidence

ai-gene-review has this gene at status DRAFT; the description is shown only once the review is complete. Read the draft upstream.

In the knowledge base · computed from kb/ at build time

Disorders

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
Juvenile Neuronal Ceroid Lipofuscinosis	causative germline	mechanism: ATP13A2 transmembrane protein dysfunction; Lysosomal Ceroid-Lipofuscin Storage subtype: CLN12 disease, late juvenile onset scoped to subtype: CLN12 disease, late juvenile onset
Complex Hereditary Spastic Paraplegia	untyped	mechanism: Endolysosomal and ESCRT Membrane-Traffic Failure subtype: SPG78 scoped to subtype: SPG78
Kufor-Rakeb syndrome	untyped Loss-of-function	mechanism: ATP13A2 loss impairs lysosomal polyamine transport

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

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
Kufor-Rakeb syndrome MONDO:0011706	AR	Definitive 2022-04-14	Kufor-Rakeb syndrome untyped

Mechanism modules · computed from kb/

lysosomal_substrate_accumulation via Juvenile Neuronal Ceroid Lipofuscinosis

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.