PHKA2
Name
phosphorylase kinase, alpha 2 (liver)
Synonyms
PHKLA, GSD9A, PHK, XLG, PYK, XLG2, PYKL [provided by Ensembl, GRCh37]
Location
chrX:18,910,418-19,002,716 (reverse strand)
Summary
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]
Ensembl gene ID
Biotype
Protein coding
NCBI gene ID
Search for articles
Gene Networks
Gene regulatory network (GRN) of the gene in two interaction steps distance for the selected cell types. The network depth can be varied by updating the number in the box of Network Settings. The GRN is based on C3NET algorithm [1]. Each links are the highest association scores for one of the genes of gene pairs. The numbers near the checked boxes refer to the numbers of links contributed by each of the cell types. One can uncheck and remove the links of any of the cell types from the network. The network topology is dynamic and can be re-arranged by pulling a node with a mouse. The solid and dashed lines refer to positive and negative correlations, respectively. Right clicking a node will bring up a menu with additional options. The arrows show the most likely direction of regulation between gene pairs.
[1]
[2]
Gene regulatory network (GRN) of the gene in two interaction steps distance for the selected cell types. The network depth can be varied by updating the number in the box of Network Settings. The GRN is based on C3NET algorithm [1]. Each links are the highest association scores for one of the genes of gene pairs. The numbers near the checked boxes refer to the numbers of links contributed by each of the cell types. One can uncheck and remove the links of any of the cell types from the network. The network topology is dynamic and can be re-arranged by pulling a node with a mouse. The solid and dashed lines refer to positive and negative correlations, respectively. Right clicking a node will bring up a menu with additional options. The arrows show the most likely direction of regulation between gene pairs.
[1] [2]
| Source | Gene | Ensembl ID | Biotype | Corr. Sign | Corr. Magnitude (r) |
|---|
