PHKA2 Chromosome X
Phosphorylase kinase regulatory subunit alpha 2
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What This Gene Does
Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, and the hepatic isoform is encoded by this gene. The beta subunit is the same in both the muscle and hepatic isoforms, and encoded by one gene. The gamma subunit also includes the skeletal muscle and hepatic isoforms, which are encoded by two different genes. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9A, also known as X-linked liver glycogenosis. Alternatively spliced transcript variants have been reported, but the full-length nature of these variants has not been determined.[provided by RefSeq, Feb 2010]
Gene Info
Gene Group
Phosphorylase kinase subunits
Locus Type
gene with protein product
Location
Xp22.13
Ensembl
ENSG00000044446
Associated Conditions (14)
Glycogen storage disease IXa1
Inborn genetic diseases
Glycogen phosphorylase kinase deficiency
PHKA2-related disorder
Glycogen storage disease IXd
Thyroid cancer
nonmedullary
1
Glycogen storage disease IXa2
Nonpapillary renal cell carcinoma
Familial cancer of breast
Aland island eye disease
Glycogen storage disease
Increased hepatic glycogen content
Key Variants
RS1158193880
Conflicting classifications of pathogenicity
Glycogen storage disease IXa1, Glycogen storage disease IXa1
Health Risk
RS1324893950
Conflicting classifications of pathogenicity
Glycogen storage disease IXa1, Glycogen storage disease IXa1
Health Risk
RS145952475
Conflicting classifications of pathogenicity
Glycogen storage disease IXa1, Glycogen storage disease IXa1
Health Risk
RS1555988071
Conflicting classifications of pathogenicity
Glycogen storage disease IXa1, Glycogen storage disease IXa1
Health Risk
RS199904295
Conflicting classifications of pathogenicity
Glycogen storage disease IXa1, Inborn genetic diseases, Glycogen storage disease IXa1
Health Risk
RS201183167
Conflicting classifications of pathogenicity
Glycogen storage disease IXa1, Inborn genetic diseases, Glycogen storage disease IXa1
Health Risk
RS2047830748
Conflicting classifications of pathogenicity
Glycogen storage disease IXa1, Glycogen storage disease IXa1
Health Risk
RS2048199652
Conflicting classifications of pathogenicity
Glycogen storage disease IXa1, Glycogen storage disease IXa1
Health Risk
RS2147799052
Conflicting classifications of pathogenicity
Glycogen storage disease IXa1, Glycogen storage disease IXa1
Health Risk
RS2147958526
Conflicting classifications of pathogenicity
Glycogen storage disease IXa1, Glycogen storage disease IXa1
Health Risk
RS367696431
Conflicting classifications of pathogenicity
Glycogen storage disease IXa1, Glycogen storage disease IXa1
Health Risk
RS368131175
Conflicting classifications of pathogenicity
Glycogen storage disease IXa1, Inborn genetic diseases, Glycogen storage disease IXa1
Health Risk
All Variants (123)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2518600953 | Health Risk | Pathogenic | Glycogen storage disease IXa1, Glycogen storage disease IXa1 |
| RS2518664486 | Health Risk | Pathogenic | Glycogen storage disease IXa1, Glycogen storage disease IXa1 |
| RS2518696723 | Health Risk | Pathogenic | Glycogen storage disease IXa1, Glycogen storage disease IXa1 |
| RS2518700813 | Health Risk | Pathogenic | Glycogen storage disease IXa1, Glycogen storage disease IXa1 |
| RS2518701130 | Health Risk | Pathogenic | — |
| RS2518766696 | Health Risk | Pathogenic | Glycogen storage disease IXa1, Glycogen storage disease IXa1 |
| RS587776732 | Health Risk | Pathogenic | Glycogen storage disease IXa1, Glycogen storage disease IXa1 |
| RS587776733 | Health Risk | Pathogenic | Glycogen storage disease IXa2, Glycogen storage disease IXa2 |
| RS760585193 | Health Risk | Pathogenic | Glycogen storage disease IXa1, Glycogen storage disease IXa1 |
| RS797045008 | Health Risk | Pathogenic | Glycogen storage disease IXa1, Glycogen phosphorylase kinase deficiency, Glycogen storage disease IXa1 |
| RS886041795 | Health Risk | Pathogenic | — |
| RS886041985 | Health Risk | Pathogenic | — |
| RS1210626722 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease IXa1, Glycogen storage disease IXa1 |
| RS137852288 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease IXa1, Glycogen storage disease, Glycogen storage disease IXa1 |
| RS140014925 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease IXa1, Glycogen phosphorylase kinase deficiency, PHKA2-related disorder |
| RS1555989523 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease IXa1, Glycogen storage disease IXa1 |
| RS1569297427 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease IXa1, Glycogen storage disease IXa1 |
| RS1601685358 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease IXa1, Glycogen storage disease IXa1 |
| RS1601760689 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease IXa1, Increased hepatic glycogen content, Glycogen storage disease IXa1 |
| RS1601781024 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease IXa1, Glycogen storage disease IXa1 |
| RS1601781031 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease IXa1, Glycogen storage disease IXa1 |
| RS2147991282 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease IXa1, Inborn genetic diseases, Glycogen storage disease IXa1 |
| RS2148058081 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease IXa1, Glycogen storage disease IXa1 |