PHKB Chromosome 16

Phosphorylase kinase regulatory subunit beta
120 variants 120 Health Risk

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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, encoded by this gene, which is a member of the phosphorylase b kinase regulatory subunit family. The gamma subunit also includes the skeletal muscle and hepatic isoforms, 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 9B, also known as phosphorylase kinase deficiency of liver and muscle. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. Two pseudogenes have been found on chromosomes 14 and 20, respectively.[provided by RefSeq, Feb 2010]
Gene Info
Gene Group
Phosphorylase kinase subunits
Locus Type
gene with protein product
Location
16q12.1
Ensembl
ENSG00000102893
Associated Conditions (15)
Glycogen storage disease IXb
PHKB-related disorder
Uterine corpus endometrial carcinoma
Lung cancer
Malignant tumor of esophagus
Familial cancer of breast
Clear cell carcinoma of kidney
Colon adenocarcinoma
Gastric cancer
Ovarian serous cystadenocarcinoma
Melanoma
Inborn genetic diseases
Mitochondrial disease
Glycogen phosphorylase kinase deficiency
See cases
Key Variants
RS111970242
Conflicting classifications of pathogenicity
Glycogen storage disease IXb, Glycogen storage disease IXb
Health Risk
RS1131063
Conflicting classifications of pathogenicity
Glycogen storage disease IXb, Glycogen storage disease IXb
Health Risk
RS117218785
Conflicting classifications of pathogenicity
Glycogen storage disease IXb, PHKB-related disorder, Uterine corpus endometrial carcinoma
Health Risk
RS121918022
Conflicting classifications of pathogenicity
Glycogen storage disease IXb, Glycogen storage disease IXb
Health Risk
RS1248967430
Conflicting classifications of pathogenicity
Glycogen storage disease IXb, Glycogen storage disease IXb
Health Risk
RS1273669177
Conflicting classifications of pathogenicity
Glycogen storage disease IXb, Glycogen storage disease IXb
Health Risk
RS137869198
Conflicting classifications of pathogenicity
Glycogen storage disease IXb, Glycogen storage disease IXb
Health Risk
RS139431568
Conflicting classifications of pathogenicity
Glycogen storage disease IXb, Glycogen storage disease IXb
Health Risk
RS139738333
Conflicting classifications of pathogenicity
Glycogen storage disease IXb, PHKB-related disorder, Glycogen storage disease IXb
Health Risk
RS140636792
Conflicting classifications of pathogenicity
Glycogen storage disease IXb, PHKB-related disorder, Glycogen storage disease IXb
Health Risk
RS142381554
Conflicting classifications of pathogenicity
Glycogen storage disease IXb, PHKB-related disorder, Glycogen storage disease IXb
Health Risk
RS144211929
Conflicting classifications of pathogenicity
Glycogen storage disease IXb, Glycogen storage disease IXb
Health Risk
All Variants (120)
RSID Category Clinical Significance Conditions
RS111970242 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXb, Glycogen storage disease IXb
RS1131063 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXb, Glycogen storage disease IXb
RS117218785 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXb, PHKB-related disorder, Uterine corpus endometrial carcinoma
RS121918022 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXb, Glycogen storage disease IXb
RS1248967430 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXb, Glycogen storage disease IXb
RS1273669177 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXb, Glycogen storage disease IXb
RS137869198 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXb, Glycogen storage disease IXb
RS139431568 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXb, Glycogen storage disease IXb
RS139738333 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXb, PHKB-related disorder, Glycogen storage disease IXb
RS140636792 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXb, PHKB-related disorder, Glycogen storage disease IXb
RS142381554 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXb, PHKB-related disorder, Glycogen storage disease IXb
RS144211929 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXb, Glycogen storage disease IXb
RS144486825 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXb, PHKB-related disorder, Glycogen storage disease IXb
RS149685822 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXb, Glycogen storage disease IXb
RS150902092 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXb, Glycogen storage disease IXb
RS199719186 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXb, Glycogen storage disease IXb
RS199899291 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXb, Glycogen storage disease IXb
RS199941695 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXb, Glycogen storage disease IXb
RS200274360 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXb, Glycogen storage disease IXb
RS200832185 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXb, Glycogen storage disease IXb
RS201995780 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXb, Glycogen storage disease IXb
RS2548342446 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXb, Glycogen storage disease IXb
RS34667348 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXb, Gastric cancer, Glycogen storage disease IXb
RS368293023 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXb, Glycogen storage disease IXb
RS369184808 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXb, Glycogen storage disease IXb
RS375389167 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXb, Inborn genetic diseases, Glycogen storage disease IXb
RS56010117 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXb, PHKB-related disorder, Inborn genetic diseases
RS573384357 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXb, Glycogen storage disease IXb
RS5816579 Health Risk Conflicting classifications of pathogenicity —
RS61494991 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXb, Glycogen storage disease IXb
RS746001808 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXb, Glycogen storage disease IXb
RS750018974 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXb, Glycogen storage disease IXb
RS751084282 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXb, Glycogen storage disease IXb
RS760502380 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXb, Glycogen storage disease IXb
RS760569328 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXb, Mitochondrial disease, Glycogen storage disease IXb
RS762504730 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXb, Glycogen storage disease IXb
RS765332910 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXb, Glycogen storage disease IXb
RS772326970 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXb, PHKB-related disorder, Glycogen storage disease IXb
RS79509460 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXb, PHKB-related disorder, Glycogen storage disease IXb
RS1191733811 Health Risk Likely pathogenic Glycogen storage disease IXb, Glycogen storage disease IXb
RS1268058356 Health Risk Likely pathogenic Glycogen storage disease IXb, Glycogen storage disease IXb
RS1290323940 Health Risk Likely pathogenic Glycogen storage disease IXb, Glycogen storage disease IXb
RS1303617854 Health Risk Likely pathogenic Glycogen storage disease IXb, Glycogen storage disease IXb
RS1314795030 Health Risk Likely pathogenic Glycogen storage disease IXb, Glycogen storage disease IXb
RS1969551435 Health Risk Likely pathogenic Glycogen phosphorylase kinase deficiency, Glycogen phosphorylase kinase deficiency
RS1972079641 Health Risk Likely pathogenic Glycogen storage disease IXb, Glycogen storage disease IXb
RS1973532430 Health Risk Likely pathogenic Glycogen storage disease IXb, Glycogen storage disease IXb
RS1974188923 Health Risk Likely pathogenic Glycogen storage disease IXb, Glycogen storage disease IXb
RS2151672494 Health Risk Likely pathogenic Glycogen storage disease IXb, Glycogen storage disease IXb
RS2151737344 Health Risk Likely pathogenic Glycogen storage disease IXb, Glycogen storage disease IXb
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