Human Gene PHKG2 (ENST00000563588.6) from GENCODE V44
Description: Homo sapiens phosphorylase kinase catalytic subunit gamma 2 (PHKG2), transcript variant 1, mRNA. (from RefSeq NM_000294) RefSeq Summary (NM_000294): 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]. Gencode Transcript: ENST00000563588.6 Gencode Gene: ENSG00000156873.16 Transcript (Including UTRs) Position: hg38 chr16:30,748,425-30,761,176 Size: 12,752 Total Exon Count: 10 Strand: + Coding Region Position: hg38 chr16:30,748,821-30,757,097 Size: 8,277 Coding Exon Count: 9
ID:PHKG2_HUMAN DESCRIPTION: RecName: Full=Phosphorylase b kinase gamma catalytic chain, testis/liver isoform; Short=PHK-gamma-T; EC=2.7.11.19; AltName: Full=PSK-C3; AltName: Full=Phosphorylase kinase subunit gamma-2; AltName: Full=Serine/threonine-protein kinase PHKG2; EC=2.7.11.1; EC=2.7.11.26; FUNCTION: Catalytic subunit of the phosphorylase b kinase (PHK), which mediates the neural and hormonal regulation of glycogen breakdown (glycogenolysis) by phosphorylating and thereby activating glycogen phosphorylase (PYGB, PYGL or PYGM). May regulate glycogeneolysis in the testis. In vitro, phosphorylates TNNI3, TNNT2, MAPT/TAU, GAP43 and NRGN/RC3. CATALYTIC ACTIVITY: 2 ATP + phosphorylase b = 2 ADP + phosphorylase a. CATALYTIC ACTIVITY: ATP + [tau protein] = ADP + [tau protein] phosphate. CATALYTIC ACTIVITY: ATP + a protein = ADP + a phosphoprotein. SUBUNIT: Hexadecamer of 4 heterotetramers, each composed of alpha, beta, gamma, and delta subunits. Alpha (PHKA1 or PHKA2) and beta (PHKB) are regulatory subunits, gamma (PHKG1 or PHKG2) is the catalytic subunit, and delta is calmodulin. DISEASE: Defects in PHKG2 are a cause of glycogen storage disease type 9C (GSD9C) [MIM:613027]. A metabolic disorder manifesting in infancy with hepatomegaly, growth retardation, hypotonia, liver dysfunction, and elevated plasma aminotransferases and lipids. These symptoms improve with age in most cases; however, some patients may develop hepatic fibrosis or cirrhosis. SIMILARITY: Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. SIMILARITY: Contains 1 protein kinase domain. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PHKG2";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P15735
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0005975 carbohydrate metabolic process GO:0005977 glycogen metabolic process GO:0005978 glycogen biosynthetic process GO:0006091 generation of precursor metabolites and energy GO:0006468 protein phosphorylation GO:0016310 phosphorylation GO:0018105 peptidyl-serine phosphorylation GO:0018107 peptidyl-threonine phosphorylation GO:0035556 intracellular signal transduction GO:0045819 positive regulation of glycogen catabolic process