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GENE AND PROTEIN SUMMARY

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Gene name

PHKG2

Description

phosphorylase kinase, gamma 2 (testis)

Protein class

Enzymes, Kinases, Mapped to UniProt SWISS-PROT, Potential transmembrane proteins

Protein evidence

Medium

Entrez gene 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]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

7 in total
5 with predicted TM region
0 with predicted signal peptide

SUBCELLULAR LOCATION SUMMARY

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Pending subcellular analysis

NORMAL TISSUE & ORGAN SUMMARY

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Pending normal tissue analysis

CANCER TISSUE SUMMARY

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Pending cancer tissue analysis

CELL LINE SUMMARY

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RNA evidence

High
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

A-431 Skin Medium

-

-

A-549 Lung High

-

-

CACO-2 Colon High

-

-

HEK 293 Embryonal kidney High

-

-

HeLa Cervix High

-

-

Hep-G2 Liver High

-

-

MCF-7 Pleural effusion High

-

-

PC-3 Bone marrow Medium

-

-

RT-4 Urinary bladder High

-

-

U-2 OS Bone Medium

-

-

U-251 MG Brain Medium

-

-

ANTIBODY SUMMARY

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Pending antibodies