ATP9A Chromosome 20
ATPase phospholipid transporting 9A
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What This Gene Does
Enables protease binding activity. Involved in negative regulation of exosomal secretion; regulation of endocytic recycling; and regulation of retrograde transport, endosome to Golgi. Located in several cellular components, including endosome; perinuclear region of cytoplasm; and trans-Golgi network membrane. Implicated in neurodevelopmental disorder with poor growth and behavioral abnormalities. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
ATPase phospholipid transporting
Locus Type
gene with protein product
Location
20q13.2
Ensembl
ENSG00000054793
Associated Conditions (2)
Neurodevelopmental disorder with poor growth and behavioral abnormalities
See cases
Key Variants
RS2516381362
Likely pathogenic
Health Risk
RS1161132652
Pathogenic
Neurodevelopmental disorder with poor growth and behavioral abnormalities, Neurodevelopmental disorder with poor growth and behavioral abnormalities
Health Risk
RS1318249328
Pathogenic
Neurodevelopmental disorder with poor growth and behavioral abnormalities, Neurodevelopmental disorder with poor growth and behavioral abnormalities
Health Risk
RS2122814957
Pathogenic
See cases, Neurodevelopmental disorder with poor growth and behavioral abnormalities, See cases
Health Risk
RS2122868199
Pathogenic
See cases, See cases
Health Risk
RS2515660735
Pathogenic
Neurodevelopmental disorder with poor growth and behavioral abnormalities, Neurodevelopmental disorder with poor growth and behavioral abnormalities
Health Risk
RS2516384106
Pathogenic
Neurodevelopmental disorder with poor growth and behavioral abnormalities, Neurodevelopmental disorder with poor growth and behavioral abnormalities
Health Risk
RS937920116
Pathogenic
Neurodevelopmental disorder with poor growth and behavioral abnormalities, Neurodevelopmental disorder with poor growth and behavioral abnormalities
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2516381362 | Health Risk | Likely pathogenic | — |
| RS1161132652 | Health Risk | Pathogenic | Neurodevelopmental disorder with poor growth and behavioral abnormalities, Neurodevelopmental disorder with poor growth and behavioral abnormalities |
| RS1318249328 | Health Risk | Pathogenic | Neurodevelopmental disorder with poor growth and behavioral abnormalities, Neurodevelopmental disorder with poor growth and behavioral abnormalities |
| RS2122814957 | Health Risk | Pathogenic | See cases, Neurodevelopmental disorder with poor growth and behavioral abnormalities, See cases |
| RS2122868199 | Health Risk | Pathogenic | See cases, See cases |
| RS2515660735 | Health Risk | Pathogenic | Neurodevelopmental disorder with poor growth and behavioral abnormalities, Neurodevelopmental disorder with poor growth and behavioral abnormalities |
| RS2516384106 | Health Risk | Pathogenic | Neurodevelopmental disorder with poor growth and behavioral abnormalities, Neurodevelopmental disorder with poor growth and behavioral abnormalities |
| RS937920116 | Health Risk | Pathogenic | Neurodevelopmental disorder with poor growth and behavioral abnormalities, Neurodevelopmental disorder with poor growth and behavioral abnormalities |