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

Gene ID: 5261, updated on 26-Jun-2015
Official Symbol
PHKG2provided by HGNC
Official Full Name
phosphorylase kinase, gamma 2 (testis)provided by HGNC
Primary source
HGNC:HGNC:8931
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]
Orthologs
See PHKG2 in Epigenomics, MapViewer
Location:
16p11.2
Exon count:
10
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 16 NC_000016.10 (30748299..30761176)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (30759574..30772497)

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 transmembrane protein 265 Neighboring gene chromosome 16 open reading frame 93 Neighboring gene ring finger protein 40, E3 ubiquitin protein ligase Neighboring gene zinc finger protein 629 Neighboring gene chromosome 20 open reading frame 27 pseudogene

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

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
 
enzyme 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 IEA
Inferred from Electronic Annotation
more info
 
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
PHK-gamma-LT
PHK-gamma-T
PSK-C3
Phosphorylase kinase, gamma 2 (testis/liver)
phosphorylase b kinase gamma catalytic chain, testis/liver isoform
phosphorylase kinase subunit gamma-2
serine/threonine-protein kinase PHKG2
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 identical proteins and their annotated locations for 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
    smart00220
    Location:24291
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd14181
    Location:13291
    STKc_PhKG2; Catalytic domain of the Serine/Threonine Kinase, Phosphorylase kinase Gamma 2 subunit
  2. NM_001172432.1NP_001165903.1  phosphorylase b kinase gamma catalytic chain, liver/testis isoform isoform 2

    See identical proteins and their annotated locations for 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
    smart00220
    Location:24291
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd14181
    Location:13291
    STKc_PhKG2; Catalytic domain of the Serine/Threonine Kinase, Phosphorylase kinase Gamma 2 subunit

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p2 Primary Assembly

    Range
    30748299..30761176
    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)