ATP2A2

ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2

2 disorders 1 causative 1 no genetic record 12q24.11 gene with protein product

HGNC:812 Monarch NCBI Gene 488 ENSG00000174437 UniProt P16615 OMIM 108740

Previous symbols: ATP2B, DAR. Aliases: SERCA2.

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
Darier Disease	causative germline loss of function	mechanism: ATP2A2 Haploinsufficiency and Loss of SERCA2 Pump Activity
Digitalis Poisoning	no genetic record	mechanism: Sarcoplasmic Reticulum Calcium Overload

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
epilepsy MONDO:0005027	AD	Refuted 2026-06-16	Epilepsy not named

Mechanism modules · computed from kb/

cardiac_camp_pka_calcium_handling named in the module itself
desmosomal_adhesion_failure via Darier Disease

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