PI4KA Chromosome 22
Phosphatidylinositol 4-kinase alpha
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What This Gene Does
This gene encodes a phosphatidylinositol (PI) 4-kinase which catalyzes the first committed step in the biosynthesis of phosphatidylinositol 4,5-bisphosphate. The mammalian PI 4-kinases have been classified into two types, II and III, based on their molecular mass, and modulation by detergent and adenosine. The protein encoded by this gene is a type III enzyme that is not inhibited by adenosine. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2018]
Gene Info
Gene Group
"Armadillo like helical domain containing|PI4KA lipid kinase complex"
Locus Type
gene with protein product
Location
22q11.21
Ensembl
ENSG00000241973
Associated Conditions (8)
Polymicrogyria
perisylvian
with cerebellar hypoplasia and arthrogryposis
PI4KA-related disorder
Spastic paraplegia 84
autosomal recessive
Phenylketonuria
Gastrointestinal defects and immunodeficiency syndrome 2
Key Variants
RS113584704
Conflicting classifications of pathogenicity
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
Health Risk
RS113882528
Conflicting classifications of pathogenicity
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
Health Risk
RS144363917
Conflicting classifications of pathogenicity
Spastic paraplegia 84, autosomal recessive, Spastic paraplegia 84
Health Risk
RS1202099178
Likely pathogenic
PI4KA-related disorder, PI4KA-related disorder
Health Risk
RS1351749039
Likely pathogenic
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
Health Risk
RS1487424685
Likely pathogenic
Health Risk
RS1555884508
Likely pathogenic
Health Risk
RS1932452329
Likely pathogenic
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
Health Risk
RS201395198
Likely pathogenic
Spastic paraplegia 84, autosomal recessive, Phenylketonuria
Health Risk
RS2147164417
Likely pathogenic
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
Health Risk
RS2518027388
Likely pathogenic
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
Health Risk
RS2518048241
Likely pathogenic
PI4KA-related disorder, PI4KA-related disorder
Health Risk
All Variants (31)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS113584704 | Health Risk | Conflicting classifications of pathogenicity | Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis |
| RS113882528 | Health Risk | Conflicting classifications of pathogenicity | Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis |
| RS144363917 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia 84, autosomal recessive, Spastic paraplegia 84 |
| RS1202099178 | Health Risk | Likely pathogenic | PI4KA-related disorder, PI4KA-related disorder |
| RS1351749039 | Health Risk | Likely pathogenic | Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis |
| RS1487424685 | Health Risk | Likely pathogenic | — |
| RS1555884508 | Health Risk | Likely pathogenic | — |
| RS1932452329 | Health Risk | Likely pathogenic | Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis |
| RS201395198 | Health Risk | Likely pathogenic | Spastic paraplegia 84, autosomal recessive, Phenylketonuria |
| RS2147164417 | Health Risk | Likely pathogenic | Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis |
| RS2518027388 | Health Risk | Likely pathogenic | Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis |
| RS2518048241 | Health Risk | Likely pathogenic | PI4KA-related disorder, PI4KA-related disorder |
| RS2518145912 | Health Risk | Likely pathogenic | PI4KA-related disorder, PI4KA-related disorder |
| RS747119727 | Health Risk | Likely pathogenic | Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis |
| RS762036318 | Health Risk | Likely pathogenic | PI4KA-related disorder, PI4KA-related disorder |
| RS767451281 | Health Risk | Likely pathogenic | Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis |
| RS139598272 | Health Risk | Pathogenic | Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis |
| RS1419816068 | Health Risk | Pathogenic | Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis |
| RS144933467 | Health Risk | Pathogenic | Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis |
| RS1490645147 | Health Risk | Pathogenic | Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis |
| RS1925715512 | Health Risk | Pathogenic | Spastic paraplegia 84, autosomal recessive, Spastic paraplegia 84 |
| RS1929601378 | Health Risk | Pathogenic | Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis |
| RS2147171210 | Health Risk | Pathogenic | Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis |
| RS2147194890 | Health Risk | Pathogenic | Spastic paraplegia 84, autosomal recessive, Spastic paraplegia 84 |
| RS2147287553 | Health Risk | Pathogenic | Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis |
| RS2518309690 | Health Risk | Pathogenic | — |
| RS747391554 | Health Risk | Pathogenic | Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis |
| RS775166339 | Health Risk | Pathogenic | Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis |
| RS776650691 | Health Risk | Pathogenic | Gastrointestinal defects and immunodeficiency syndrome 2, Gastrointestinal defects and immunodeficiency syndrome 2 |
| RS777006911 | Health Risk | Pathogenic | Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis |
| RS779656809 | Health Risk | Pathogenic | PI4KA-related disorder, PI4KA-related disorder |