PPP1R21 Chromosome 2
Protein phosphatase 1 regulatory subunit 21
Upload your DNA to see your personal genotypes for variants in PPP1R21.
What This Gene Does
Enables RNA binding activity. Located in early endosome. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"Protein phosphatase 1 regulatory subunits|FERRY complex subunits"
Locus Type
gene with protein product
Location
2p16.3
Ensembl
ENSG00000162869
Associated Conditions (7)
Neurodevelopmental disorder with hypotonia
facial dysmorphism
and brain abnormalities
Inborn genetic diseases
Thyroid cancer
nonmedullary
1
Key Variants
RS200775619
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities
Health Risk
RS778549403
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities
Health Risk
RS1667910868
Likely pathogenic
Health Risk
RS2103865102
Likely pathogenic
Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities
Health Risk
RS2528822984
Likely pathogenic
Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities
Health Risk
RS2528877481
Likely pathogenic
Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities
Health Risk
RS989639063
Likely pathogenic
Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities
Health Risk
RS1667894875
Pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1670430380
Pathogenic
Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities
Health Risk
RS2103624293
Pathogenic
Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities
Health Risk
RS2103757235
Pathogenic
Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities
Health Risk
RS2103789078
Pathogenic
Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities
Health Risk
All Variants (18)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS200775619 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities |
| RS778549403 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities |
| RS1667910868 | Health Risk | Likely pathogenic | — |
| RS2103865102 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities |
| RS2528822984 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities |
| RS2528877481 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities |
| RS989639063 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities |
| RS1667894875 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1670430380 | Health Risk | Pathogenic | Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities |
| RS2103624293 | Health Risk | Pathogenic | Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities |
| RS2103757235 | Health Risk | Pathogenic | Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities |
| RS2103789078 | Health Risk | Pathogenic | Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities |
| RS2529033786 | Health Risk | Pathogenic | — |
| RS2529044401 | Health Risk | Pathogenic | Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities |
| RS370271261 | Health Risk | Pathogenic | Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities |
| RS778816851 | Health Risk | Pathogenic | — |
| RS866802950 | Health Risk | Pathogenic | Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities |
| RS998498095 | Health Risk | Pathogenic | Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities |