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PHKG2 phosphorylase kinase catalytic subunit gamma 2 [ Homo sapiens (human) ]

Gene ID: 5261, updated on 8-Jul-2021

Summary

Official Symbol
PHKG2provided by HGNC
Official Full Name
phosphorylase kinase catalytic subunit gamma 2provided by HGNC
Primary source
HGNC:HGNC:8931
See related
Ensembl:ENSG00000156873 MIM:172471
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]
Expression
Broad expression in testis (RPKM 22.8), bone marrow (RPKM 6.1) and 24 other tissues See more
Orthologs
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Genomic context

See PHKG2 in Genome Data Viewer
Location:
16p11.2
Exon count:
10
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (30748425..30761176)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (30759746..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 cilia and flagella associated protein 119 Neighboring gene ring finger protein 40 Neighboring gene zinc finger protein 629 Neighboring gene chromosome 20 open reading frame 27 pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables calmodulin binding IEA
Inferred from Electronic Annotation
more info
 
enables enzyme binding IEA
Inferred from Electronic Annotation
more info
 
enables phosphorylase kinase activity TAS
Traceable Author Statement
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein serine/threonine kinase activity TAS
Traceable Author Statement
more info
PubMed 
enables tau-protein kinase activity TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in cytosol TAS
Traceable Author Statement
more info
 
part_of phosphorylase kinase complex TAS
Traceable Author Statement
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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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_016616.2 RefSeqGene

    Range
    5127..17878
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000294.3NP_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
    Consensus CDS
    CCDS10690.1
    UniProtKB/Swiss-Prot
    P15735
    Related
    ENSP00000455607.1, ENST00000563588.6
    Conserved Domains (1) summary
    cd14181
    Location:13291
    STKc_PhKG2; Catalytic domain of the Serine/Threonine Kinase, Phosphorylase kinase Gamma 2 subunit
  2. NM_001172432.2NP_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
    Related
    ENSP00000388571.3, ENST00000424889.7
    Conserved Domains (2) summary
    cd14181
    Location:13291
    STKc_PhKG2; Catalytic domain of the Serine/Threonine Kinase, Phosphorylase kinase Gamma 2 subunit
    pfam00069
    Location:24291
    Pkinase; Protein kinase domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    30748425..30761176
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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