ATP11C Chromosome X
ATPase phospholipid transporting 11C (ATP11C blood group)
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What This Gene Does
Enables phosphatidylethanolamine flippase activity and phosphatidylserine flippase activity. Involved in phospholipid translocation. Located in endoplasmic reticulum and plasma membrane. Part of phospholipid-translocating ATPase complex. Implicated in X-linked congenital hemolytic anemia. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"Blood group antigens|ATPase phospholipid transporting|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
Xq27.1
Ensembl
ENSG00000101974
Associated Conditions (3)
ATP11C-related disorder
X-linked congenital hemolytic anemia
Nonpapillary renal cell carcinoma
Key Variants
RS199612746
Conflicting classifications of pathogenicity
ATP11C-related disorder, ATP11C-related disorder
Health Risk
RS1556323334
Likely pathogenic
X-linked congenital hemolytic anemia, X-linked congenital hemolytic anemia
Health Risk
RS2148723294
Pathogenic
X-linked congenital hemolytic anemia, Nonpapillary renal cell carcinoma, X-linked congenital hemolytic anemia
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS199612746 | Health Risk | Conflicting classifications of pathogenicity | ATP11C-related disorder, ATP11C-related disorder |
| RS1556323334 | Health Risk | Likely pathogenic | X-linked congenital hemolytic anemia, X-linked congenital hemolytic anemia |
| RS2148723294 | Health Risk | Pathogenic | X-linked congenital hemolytic anemia, Nonpapillary renal cell carcinoma, X-linked congenital hemolytic anemia |