PHKG2 Chromosome 16
Phosphorylase kinase catalytic subunit gamma 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, encoded by two different genes. 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, and the hepatic isoform is encoded by this gene. 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 9C, also known as autosomal liver glycogenosis. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010]
Gene Info
Gene Group
Phosphorylase kinase subunits
Locus Type
gene with protein product
Location
16p11.2
Ensembl
ENSG00000156873
Associated Conditions (17)
Glycogen storage disease IXc
PHKG2-related disorder
Melanoma
Adrenocortical carcinoma
hereditary
Ovarian serous cystadenocarcinoma
Hepatocellular carcinoma
Lung cancer
Cervical cancer
Uterine corpus endometrial carcinoma
Clear cell carcinoma of kidney
Colorectal cancer
Gastric cancer
Inborn genetic diseases
Glycogen phosphorylase kinase deficiency
Mauriac syndrome
Glycogen storage disease type IXc
Key Variants
RS138416154
Conflicting classifications of pathogenicity
Glycogen storage disease IXc, PHKG2-related disorder, Melanoma
Health Risk
RS141025408
Conflicting classifications of pathogenicity
Glycogen storage disease IXc, Inborn genetic diseases, Glycogen storage disease IXc
Health Risk
RS143983247
Conflicting classifications of pathogenicity
Glycogen storage disease IXc, Glycogen storage disease IXc
Health Risk
RS149163610
Conflicting classifications of pathogenicity
Glycogen storage disease IXc, Glycogen storage disease IXc
Health Risk
RS151033581
Conflicting classifications of pathogenicity
Glycogen storage disease IXc, Glycogen storage disease IXc
Health Risk
RS187710792
Conflicting classifications of pathogenicity
Glycogen storage disease IXc, Glycogen storage disease IXc
Health Risk
RS199743139
Conflicting classifications of pathogenicity
Glycogen storage disease IXc, Glycogen storage disease IXc
Health Risk
RS200427925
Conflicting classifications of pathogenicity
Glycogen storage disease IXc, Glycogen storage disease IXc
Health Risk
RS201113602
Conflicting classifications of pathogenicity
Glycogen storage disease IXc, Glycogen storage disease IXc
Health Risk
RS2053339231
Conflicting classifications of pathogenicity
Glycogen storage disease IXc, Glycogen storage disease IXc
Health Risk
RS2053379816
Conflicting classifications of pathogenicity
Glycogen storage disease IXc, Glycogen storage disease IXc
Health Risk
RS2053427702
Conflicting classifications of pathogenicity
PHKG2-related disorder, Glycogen phosphorylase kinase deficiency, Glycogen storage disease IXc
Health Risk
All Variants (66)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138416154 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease IXc, PHKG2-related disorder, Melanoma |
| RS141025408 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease IXc, Inborn genetic diseases, Glycogen storage disease IXc |
| RS143983247 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease IXc, Glycogen storage disease IXc |
| RS149163610 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease IXc, Glycogen storage disease IXc |
| RS151033581 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease IXc, Glycogen storage disease IXc |
| RS187710792 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease IXc, Glycogen storage disease IXc |
| RS199743139 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease IXc, Glycogen storage disease IXc |
| RS200427925 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease IXc, Glycogen storage disease IXc |
| RS201113602 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease IXc, Glycogen storage disease IXc |
| RS2053339231 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease IXc, Glycogen storage disease IXc |
| RS2053379816 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease IXc, Glycogen storage disease IXc |
| RS2053427702 | Health Risk | Conflicting classifications of pathogenicity | PHKG2-related disorder, Glycogen phosphorylase kinase deficiency, Glycogen storage disease IXc |
| RS371298131 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease IXc, Glycogen storage disease IXc |
| RS532137455 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease IXc, Inborn genetic diseases, Glycogen storage disease IXc |
| RS556945561 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease IXc, Glycogen storage disease IXc |
| RS55751949 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease IXc, PHKG2-related disorder, Glycogen storage disease IXc |
| RS56029513 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease IXc, Glycogen storage disease IXc |
| RS560414449 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease IXc, Glycogen storage disease IXc |
| RS572115942 | Health Risk | Conflicting classifications of pathogenicity | Mauriac syndrome, Glycogen storage disease IXc, Mauriac syndrome |
| RS572169140 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease IXc, Glycogen storage disease IXc |
| RS61731628 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease IXc, Glycogen storage disease IXc |
| RS886051910 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease IXc, Glycogen storage disease IXc |
| RS898984695 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease IXc, Glycogen storage disease IXc |
| RS1452140139 | Health Risk | Likely pathogenic | Glycogen storage disease IXc, Glycogen storage disease IXc |
| RS2543456237 | Health Risk | Likely pathogenic | Glycogen storage disease IXc, Glycogen storage disease IXc |
| RS2543462043 | Health Risk | Likely pathogenic | Glycogen storage disease IXc, Glycogen storage disease IXc |
| RS760257918 | Health Risk | Likely pathogenic | Glycogen phosphorylase kinase deficiency, Glycogen storage disease IXc, Glycogen phosphorylase kinase deficiency |
| RS762089284 | Health Risk | Likely pathogenic | Glycogen storage disease IXc, Glycogen storage disease IXc |
| RS1270523244 | Health Risk | Pathogenic | Glycogen storage disease IXc, Glycogen storage disease type IXc, Glycogen storage disease IXc |
| RS1372753669 | Health Risk | Pathogenic | Glycogen storage disease IXc, Glycogen storage disease IXc |
| RS137853588 | Health Risk | Pathogenic | Glycogen storage disease IXc, Glycogen storage disease IXc |
| RS137853589 | Health Risk | Pathogenic | Glycogen storage disease IXc, Glycogen storage disease IXc |
| RS137853590 | Health Risk | Pathogenic | Glycogen storage disease IXc, Glycogen storage disease IXc |
| RS137853591 | Health Risk | Pathogenic | Glycogen storage disease IXc, Glycogen storage disease IXc |
| RS137853592 | Health Risk | Pathogenic | Glycogen storage disease IXc, Glycogen storage disease IXc |
| RS1395363276 | Health Risk | Pathogenic | Glycogen storage disease IXc, Glycogen storage disease IXc |
| RS1410139220 | Health Risk | Pathogenic | Glycogen storage disease IXc, Glycogen storage disease IXc |
| RS1445993948 | Health Risk | Pathogenic | Glycogen storage disease IXc, Glycogen storage disease IXc |
| RS1450937339 | Health Risk | Pathogenic | Glycogen storage disease IXc, Glycogen storage disease IXc |
| RS1555467052 | Health Risk | Pathogenic | Glycogen storage disease IXc, Glycogen storage disease IXc |
| RS1555467557 | Health Risk | Pathogenic | Glycogen storage disease IXc, Inborn genetic diseases, Glycogen storage disease IXc |
| RS1567260747 | Health Risk | Pathogenic | Glycogen storage disease IXc, Glycogen storage disease IXc |
| RS1596680941 | Health Risk | Pathogenic | Glycogen storage disease IXc, Glycogen storage disease IXc |
| RS1596687555 | Health Risk | Pathogenic | Glycogen storage disease IXc, Glycogen storage disease IXc |
| RS2053379013 | Health Risk | Pathogenic | Glycogen storage disease IXc, Glycogen storage disease IXc |
| RS2053428286 | Health Risk | Pathogenic | Glycogen storage disease IXc, Glycogen storage disease IXc |
| RS2151310104 | Health Risk | Pathogenic | Glycogen storage disease IXc, Glycogen storage disease IXc |
| RS2490967067 | Health Risk | Pathogenic | Glycogen storage disease IXc, Glycogen storage disease IXc |
| RS2543449141 | Health Risk | Pathogenic | Glycogen storage disease IXc, Glycogen storage disease IXc |
| RS2543449200 | Health Risk | Pathogenic | Glycogen storage disease IXc, Glycogen storage disease IXc |