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Sequence in raw or FASTA format:

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PHKG2 phosphorylase kinase, gamma 2 (testis) [Homo sapiens (human)]


RefSeq Accession Definition Services Price Order
NM_000294 Homo sapiens phosphorylase kinase, gamma 2 (testis) (PHKG2), transcript variant 1, mRNA. ORF Sequence $354.09
Peptide Services
Antibody Services
Protein Services
NM_001172432 Homo sapiens phosphorylase kinase, gamma 2 (testis) (PHKG2), transcript variant 2, mRNA. ORF Sequence $326.25
Peptide Services
Antibody Services
Protein Services


Gene Symbol PHKG2
Entrez Gene ID 5261
Full Name phosphorylase kinase, gamma 2 (testis)
Synonyms GSD9C
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

16

16p11.2

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, 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].
Disorder

MIM: 172471

Glycogen storage disease IXc, 613027 (3); Cirrhosis due to liver

mRNA Protein Product Sequence Price Select
NM_000294, 289063420 NP_000285, 4505785 phosphorylase b kinase gamma catalytic chain, liver/testis isoform isoform 1 Full Length $2476.35
ORF Sequence $354.09
NM_001172432, 289063421 NP_001165903, 289063422 phosphorylase b kinase gamma catalytic chain, liver/testis isoform isoform 2 Full Length $686.43
ORF Sequence $326.25
KEGG
hsa04020Calcium signaling pathway
hsa04910Insulin signaling pathway
WikiPathways
WP500Glycogen Metabolism
Reactome
REACT_723Glucose metabolism
REACT_111217Metabolism
REACT_474Metabolism of carbohydrates
REACT_1008Glycogen breakdown (glycogenolysis)
Homo sapiens (human)PHKG2NP_000285.1
Pan troglodytes (chimpanzee)PHKG2XP_001144282.2
Macaca mulatta (Rhesus monkey)LOC100423096XP_002802499.1
Canis lupus familiaris (dog)PHKG2XP_848970.1
Bos taurus (cattle)PHKG2NP_001039593.1
Mus musculus (house mouse)Phkg2NP_081164.2
Rattus norvegicus (Norway rat)Phkg2NP_542151.1
Danio rerio (zebrafish)phkg2NP_957256.1
Drosophila melanogaster (fruit fly)PhKgammaNP_727548.1
Caenorhabditis elegansY50D7A.3NP_497181.2
GeneCards PHKG2
PDB 2Y7J
UniProt P15735
MIM 172471
Ensembl ENSG00000156873
HGNC 8931
HPRD 01405

GeneRIFs: Gene References Into Functions What's a GeneRIF?

General protein information

Preferred Names
phosphorylase b kinase gamma catalytic chain, liver/testis isoform
Names
phosphorylase b kinase gamma catalytic chain, liver/testis isoform
PSK-C3
PHK-gamma-T
PHK-gamma-LT
phosphorylase kinase subunit gamma-2
serine/threonine-protein kinase PHKG2
Phosphorylase kinase, gamma 2 (testis/liver)
phosphorylase b kinase gamma catalytic chain, testis/liver isoform
NP_000285.1
NP_001165903.1

Interactant

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