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

Gene ID: 5261, updated on 16-Apr-2014
Official Symbol
PHKG2provided by HGNC
Official Full Name
phosphorylase kinase, gamma 2 (testis)provided by HGNC
Primary source
HGNC:8931
Locus tag
RP11-2C24.4
See related
Ensembl:ENSG00000156873; HPRD:01405; MIM:172471; Vega:OTTHUMG00000132400
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GSD9C
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]
Location :
16p11.2
Sequence :
Chromosome: 16; NC_000016.10 (30748253..30761176)
See PHKG2 in Epigenomics, MapViewer

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene Snf2-related CREBBP activator protein Neighboring gene small nucleolar RNA, H/ACA box 30 Neighboring gene uncharacterized LOC100862671 Neighboring gene chromosome 16 open reading frame 93 Neighboring gene ring finger protein 40, E3 ubiquitin protein ligase Neighboring gene zinc finger protein 629

  • Calcium signaling pathway, organism-specific biosystem (from KEGG)
    Calcium signaling pathway, organism-specific biosystemCa2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this...
  • Calcium signaling pathway, conserved biosystem (from KEGG)
    Calcium signaling pathway, conserved biosystemCa2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this...
  • Glucose metabolism, organism-specific biosystem (from REACTOME)
    Glucose metabolism, organism-specific biosystemGlucose is the major form in which dietary sugars are made available to cells of the human body. Its breakdown is a major source of energy for all cells, and is essential for the brain and red blood ...
  • Glycogen Metabolism, organism-specific biosystem (from WikiPathways)
    Glycogen Metabolism, organism-specific biosystemGlycogen is a very large, branched polymer of glucose residues. Within skeletal musle and liver glucose is stored as glycogen. In the liver, glycogen synthesis and degradation are regulated to mainta...
  • Glycogen breakdown (glycogenolysis), organism-specific biosystem (from REACTOME)
    Glycogen breakdown (glycogenolysis), organism-specific biosystemGlycogen breakdown occurs via the same chemical steps in all tissues but is separately regulated via tissue specific isozymes and signaling pathways that enable distinct physiological fates for liver...
  • Insulin signaling pathway, organism-specific biosystem (from KEGG)
    Insulin signaling pathway, organism-specific biosystemInsulin binding to its receptor results in the tyrosine phosphorylation of insulin receptor substrates (IRS) by the insulin receptor tyrosine kinase (INSR). This allows association of IRSs with the r...
  • Insulin signaling pathway, conserved biosystem (from KEGG)
    Insulin signaling pathway, conserved biosystemInsulin binding to its receptor results in the tyrosine phosphorylation of insulin receptor substrates (IRS) by the insulin receptor tyrosine kinase (INSR). This allows association of IRSs with the r...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of carbohydrates, organism-specific biosystem (from REACTOME)
    Metabolism of carbohydrates, organism-specific biosystemThese pathways together are responsible for: 1) the extraction of energy and carbon skeletons for biosyntheses from dietary sugars and related molecules; 2) the short-term storage of glucose in the b...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
calmodulin binding IEA
Inferred from Electronic Annotation
more info
 
phosphorylase kinase activity TAS
Traceable Author Statement
more info
PubMed 
protein serine/threonine kinase activity TAS
Traceable Author Statement
more info
PubMed 
tau-protein kinase activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
carbohydrate metabolic process TAS
Traceable Author Statement
more info
 
generation of precursor metabolites and energy TAS
Traceable Author Statement
more info
PubMed 
glucose metabolic process TAS
Traceable Author Statement
more info
 
glycogen biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
glycogen catabolic process TAS
Traceable Author Statement
more info
 
glycogen metabolic process TAS
Traceable Author Statement
more info
PubMed 
positive regulation of glycogen catabolic process TAS
Traceable Author Statement
more info
PubMed 
protein phosphorylation TAS
Traceable Author Statement
more info
PubMed 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cellular_component ND
No biological Data available
more info
 
cytosol TAS
Traceable Author Statement
more info
 
phosphorylase kinase complex TAS
Traceable Author Statement
more info
PubMed 
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

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_016616.1 RefSeqGene

    Range
    5001..17871
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000294.2NP_000285.1  phosphorylase b kinase gamma catalytic chain, liver/testis isoform isoform 1

    See proteins identical to NP_000285.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AC106886, M31606
    Consensus CDS
    CCDS10690.1
    UniProtKB/Swiss-Prot
    P15735
    Related
    ENSP00000455607, OTTHUMP00000163233, ENST00000563588, OTTHUMT00000255531
    Conserved Domains (2) summary
    cd05123
    Location:30291
    Blast Score: 576
    STKc_AGC; Catalytic domain of AGC family Protein Serine/Threonine Kinases
    smart00220
    Location:24291
    Blast Score: 825
    S_TKc; Serine/Threonine protein kinases, catalytic domain
  2. NM_001172432.1NP_001165903.1  phosphorylase b kinase gamma catalytic chain, liver/testis isoform isoform 2

    See proteins identical to NP_001165903.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an internal segment in the 3' region, as compared to variant 1. The resulting isoform (2) is shorter and has a different C-terminus, as compared to isoform 1.
    Source sequence(s)
    AC106886, AK293551, CA449954
    Consensus CDS
    CCDS54002.1
    UniProtKB/Swiss-Prot
    P15735
    Conserved Domains (2) summary
    cd05123
    Location:30291
    Blast Score: 574
    STKc_AGC; Catalytic domain of AGC family Protein Serine/Threonine Kinases
    smart00220
    Location:24291
    Blast Score: 818
    S_TKc; Serine/Threonine protein kinases, catalytic domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000016.10

    Range
    30748253..30761176
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005255363.1XP_005255420.1  

    UniProtKB/TrEMBL
    J3KNN3
    Related
    ENSP00000329968, OTTHUMP00000254874, ENST00000328273, OTTHUMT00000433327
    Conserved Domains (2) summary
    cd05123
    Location:30295
    Blast Score: 560
    STKc_AGC; Catalytic domain of AGC family Protein Serine/Threonine Kinases
    smart00220
    Location:24295
    Blast Score: 810
    S_TKc; Serine/Threonine protein kinases, catalytic domain
  2. XM_005255364.1XP_005255421.1  

    Conserved Domains (2) summary
    smart00220
    Location:1193
    Blast Score: 638
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cl09925
    Location:1193
    Blast Score: 473
    PKc_like; Protein Kinases, catalytic domain
  3. XM_005255365.2XP_005255422.1  

    See proteins identical to XP_005255422.1

    Conserved Domains (2) summary
    smart00220
    Location:1186
    Blast Score: 616
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cl09925
    Location:4186
    Blast Score: 460
    PKc_like; Protein Kinases, catalytic domain
  4. XM_006721054.1XP_006721117.1  

    See proteins identical to XP_006721117.1

    Conserved Domains (2) summary
    smart00220
    Location:1186
    Blast Score: 616
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cl09925
    Location:4186
    Blast Score: 460
    PKc_like; Protein Kinases, catalytic domain

Alternate HuRef

Genomic

  1. AC_000148.1 Alternate HuRef

    Range
    28322420..28335306
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018927.2 Alternate CHM1_1.1

    Range
    32076842..32089639
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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