INPP5K Chromosome 17
Inositol polyphosphate-5-phosphatase K
Upload your DNA to see your personal genotypes for variants in INPP5K.
What This Gene Does
This gene encodes a protein with 5-phosphatase activity toward polyphosphate inositol. The protein localizes to the cytosol in regions lacking actin stress fibers. It is thought that this protein may negatively regulate the actin cytoskeleton. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]
Gene Info
Gene Group
Phosphoinositide phosphatases
Locus Type
gene with protein product
Location
17p13.3
Ensembl
ENSG00000132376
Associated Conditions (9)
Congenital muscular dystrophy with cataracts and intellectual disability
Congenital muscular dystrophy
Congenital myopathy
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
type B1
INPP5K-related disorder
Inborn genetic diseases
Precursor Cell Lymphoblastic Leukemia-Lymphoma
See cases
Key Variants
RS1060505038
Conflicting classifications of pathogenicity
Congenital muscular dystrophy with cataracts and intellectual disability, Congenital muscular dystrophy, Congenital myopathy
Health Risk
RS147375994
Conflicting classifications of pathogenicity
Congenital muscular dystrophy with cataracts and intellectual disability, INPP5K-related disorder, Inborn genetic diseases
Health Risk
RS2075263105
Conflicting classifications of pathogenicity
Congenital muscular dystrophy with cataracts and intellectual disability, Precursor Cell Lymphoblastic Leukemia-Lymphoma, Congenital muscular dystrophy with cataracts and intellectual disability
Health Risk
RS547379014
Conflicting classifications of pathogenicity
Congenital muscular dystrophy with cataracts and intellectual disability, INPP5K-related disorder, Congenital muscular dystrophy with cataracts and intellectual disability
Health Risk
RS765015650
Conflicting classifications of pathogenicity
See cases, See cases
Health Risk
RS2075207934
Likely pathogenic
Congenital muscular dystrophy with cataracts and intellectual disability, Congenital muscular dystrophy with cataracts and intellectual disability
Health Risk
RS2543887096
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS749383757
Likely pathogenic
Congenital muscular dystrophy with cataracts and intellectual disability, Congenital muscular dystrophy with cataracts and intellectual disability
Health Risk
RS779061835
Likely pathogenic
Congenital muscular dystrophy with cataracts and intellectual disability, Congenital muscular dystrophy with cataracts and intellectual disability
Health Risk
RS1060505039
Pathogenic
Congenital muscular dystrophy with cataracts and intellectual disability, Congenital muscular dystrophy with cataracts and intellectual disability
Health Risk
RS1060505040
Pathogenic
Congenital muscular dystrophy with cataracts and intellectual disability, Congenital muscular dystrophy with cataracts and intellectual disability
Health Risk
RS2075357811
Pathogenic
Congenital muscular dystrophy with cataracts and intellectual disability, Congenital muscular dystrophy with cataracts and intellectual disability
Health Risk
All Variants (16)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1060505038 | Health Risk | Conflicting classifications of pathogenicity | Congenital muscular dystrophy with cataracts and intellectual disability, Congenital muscular dystrophy, Congenital myopathy |
| RS147375994 | Health Risk | Conflicting classifications of pathogenicity | Congenital muscular dystrophy with cataracts and intellectual disability, INPP5K-related disorder, Inborn genetic diseases |
| RS2075263105 | Health Risk | Conflicting classifications of pathogenicity | Congenital muscular dystrophy with cataracts and intellectual disability, Precursor Cell Lymphoblastic Leukemia-Lymphoma, Congenital muscular dystrophy with cataracts and intellectual disability |
| RS547379014 | Health Risk | Conflicting classifications of pathogenicity | Congenital muscular dystrophy with cataracts and intellectual disability, INPP5K-related disorder, Congenital muscular dystrophy with cataracts and intellectual disability |
| RS765015650 | Health Risk | Conflicting classifications of pathogenicity | See cases, See cases |
| RS2075207934 | Health Risk | Likely pathogenic | Congenital muscular dystrophy with cataracts and intellectual disability, Congenital muscular dystrophy with cataracts and intellectual disability |
| RS2543887096 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS749383757 | Health Risk | Likely pathogenic | Congenital muscular dystrophy with cataracts and intellectual disability, Congenital muscular dystrophy with cataracts and intellectual disability |
| RS779061835 | Health Risk | Likely pathogenic | Congenital muscular dystrophy with cataracts and intellectual disability, Congenital muscular dystrophy with cataracts and intellectual disability |
| RS1060505039 | Health Risk | Pathogenic | Congenital muscular dystrophy with cataracts and intellectual disability, Congenital muscular dystrophy with cataracts and intellectual disability |
| RS1060505040 | Health Risk | Pathogenic | Congenital muscular dystrophy with cataracts and intellectual disability, Congenital muscular dystrophy with cataracts and intellectual disability |
| RS2075357811 | Health Risk | Pathogenic | Congenital muscular dystrophy with cataracts and intellectual disability, Congenital muscular dystrophy with cataracts and intellectual disability |
| RS2543926238 | Health Risk | Pathogenic | Congenital muscular dystrophy with cataracts and intellectual disability, Congenital muscular dystrophy with cataracts and intellectual disability |
| RS750781027 | Health Risk | Pathogenic | Congenital muscular dystrophy with cataracts and intellectual disability, Congenital muscular dystrophy with cataracts and intellectual disability |
| RS761612652 | Health Risk | Pathogenic | Congenital muscular dystrophy with cataracts and intellectual disability, Congenital muscular dystrophy with cataracts and intellectual disability |
| RS766046008 | Health Risk | Pathogenic | Congenital muscular dystrophy with cataracts and intellectual disability, Congenital muscular dystrophy with cataracts and intellectual disability |