Phka2 Gene Search Result

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3 records found for search term Phka2

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RGD ID	Symbol	Name	Description	Chr	Start	Stop	Species	Annotations	Match	Type
1344785	PHKA2	phosphorylase kinase regulatory subunit alpha 2	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 ... (more) 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]	X	18892298	18984114	Human	246	symbol , COSMIC , Human Proteome Map	gene, protein-coding, REVIEWED [RefSeq]
6767134	PHKA2-AS1	PHKA2 antisense RNA 1	INTERACTS WITH benzo[a]pyrene; sodium arsenite	X	18890296	18894975	Human	2	symbol , COSMIC , name , Human Proteome Map	gene, ncrna, VALIDATED [RefSeq]
16571831	AL732509.1	novel transcript, antisense to ADGRG2and PHKA2		X	18987587	19057133	Human		name	gene, ncrna, MODEL [RefSeq]