ATP2C2 Chromosome 16
ATPase secretory pathway Ca2+ transporting 2
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What This Gene Does
Enables P-type calcium transporter activity and P-type manganese transporter activity. Predicted to be involved in calcium ion transmembrane transport; intracellular calcium ion homeostasis; and manganese ion transport. Predicted to act upstream of or within mammary gland epithelium development; positive regulation of calcium ion import; and protein localization to plasma membrane. Predicted to be located in trans-Golgi network membrane. Predicted to be active in Golgi membrane; endoplasmic reticulum; and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
ATPases Ca2+ transporting
Locus Type
gene with protein product
Location
16q24.1
Ensembl
ENSG00000064270
Associated Conditions (1)
ATP2C2-related disorder
Key Variants
RS200318788
Conflicting classifications of pathogenicity
Health Risk
RS200370001
Conflicting classifications of pathogenicity
Health Risk
RS201569578
Conflicting classifications of pathogenicity
Health Risk
RS373784599
Conflicting classifications of pathogenicity
Health Risk
RS62640932
Conflicting classifications of pathogenicity
ATP2C2-related disorder, ATP2C2-related disorder
Health Risk
RS78887288
Conflicting classifications of pathogenicity
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS200318788 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200370001 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201569578 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS373784599 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS62640932 | Health Risk | Conflicting classifications of pathogenicity | ATP2C2-related disorder, ATP2C2-related disorder |
| RS78887288 | Health Risk | Conflicting classifications of pathogenicity | — |