PHKG2

GENE INFORMATION

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Gene name

PHKG2

Synonyms

Description

phosphorylase kinase, gamma 2 (testis) (HGNC Symbol)

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]

Chromosome

16 (Chromosome progress)

Cytoband

p11.2

Chromosome location (bp)

30759591 - 30772490

Ensembl

ENSG00000156873 (version 73.37)

Entrez gene

5261

UniProt

P15735 (UniProt - Evidence at protein level)

neXtProt

NX_P15735

Antibodypedia

PHKG2 antibodies
 

PROTEIN VIEW

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PHKG2-001
 
PHKG2-002
 
PHKG2-004
 
PHKG2-009
 
PHKG2-010
 
PHKG2-011
 
PHKG2-012
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

PHKG2-001 ENSP00000455607
ENST00000563588
P15735
Show all »
Show » Show » 406 46.4 No 1
PHKG2-002 ENSP00000388571
ENST00000424889
P15735
Show all »
Show » Show » 374 43.2 No 1
PHKG2-004 ENSP00000329968
ENST00000328273
J3KNN3
Show all »
Show » Show » 410 46.9 No 1
PHKG2-009 ENSP00000457359
ENST00000565897
H3BTW6
Show all »
Show » Show » 266 30.6 No 1
PHKG2-010 ENSP00000454641
ENST00000563607
H3BN16
Show all »
Show » 87 9.7 No 0
PHKG2-011 ENSP00000457194
ENST00000561712
Show » 80 9.2 No 0
PHKG2-012 ENSP00000455091
ENST00000565924
H3BP07
Show all »
Show » Show » 255 29.3 No 1