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

Gene ID: 5261, updated on 5-Mar-2024

Summary

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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; AllianceGenome:HGNC:8931
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

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Location:
16p11.2
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (30748425..30761176)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (31135424..31148597)
105.20220307 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 ATAC-STARR-seq lymphoblastoid active region 10721 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:30749504-30750051 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr16:30752251-30753450 Neighboring gene transmembrane protein 265 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7391 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7392 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10722 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr16:30771308-30772507 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:30772706-30772935 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10724 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:30773347-30773984 Neighboring gene cilia and flagella associated protein 119 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:30775098-30775598 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:30775599-30776099 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:30780568-30780764 Neighboring gene ring finger protein 40 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:30785886-30786564 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:30786565-30787241 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10727 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10728 Neighboring gene zinc finger protein 629

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. PHKG2 regulates RSL3-induced ferroptosis in Helicobacter pylori related gastric cancer. Zhu W, et al. Arch Biochem Biophys, 2023 May 15. PMID 36948350
  2. Variability of clinical and biochemical phenotype in liver phosphorylase kinase deficiency with variants in the phosphorylase kinase (PHKG2) gene. Waheed N, et al. J Pediatr Endocrinol Metab, 2020 Sep 25. PMID 32697758
  3. Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene. Bali DS, et al. Mol Genet Metab, 2014 Mar. PMID 24389071, Free PMC Article
  4. Novel PHKG2 mutation causing GSD IX with prominent liver disease: report of three cases and review of literature. Albash B, et al. Eur J Pediatr, 2014 May. PMID 24326380
  5. Severe phenotype of phosphorylase kinase-deficient liver glycogenosis with mutations in the PHKG2 gene. Burwinkel B, et al. Pediatr Res, 2003 Dec. PMID 12930917

See all (48) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. PHKG2 regulates RSL3-induced ferroptosis in Helicobacter pylori related gastric cancer.
    Title: PHKG2 regulates RSL3-induced ferroptosis in Helicobacter pylori related gastric cancer.
  2. Variability of clinical and biochemical phenotype in liver phosphorylase kinase deficiency with variants in the phosphorylase kinase (PHKG2) gene.
    Title: Variability of clinical and biochemical phenotype in liver phosphorylase kinase deficiency with variants in the phosphorylase kinase (PHKG2) gene.
  3. These cases add to the current knowledge of clinical variability in patients with PHKG2 mutations. Long term studies, involving follow-up of these patients into adulthood, are needed
    Title: Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene.
  4. Patients with PHKG2 mutations have a severe hepatic phenotype within the heterogeneous GSD IX disorder. A defect in PHKG2 should be considered in patients with suspected glycogenosis associated with significant liver fibrosis and cirrhosis.
    Title: Novel PHKG2 mutation causing GSD IX with prominent liver disease: report of three cases and review of literature.
  5. PHKG2 mutations are associated with Glycogen storage disease type IX
    Title: Glycogen storage disease type IX: High variability in clinical phenotype.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Glycogen storage disease IXc
MedGen: C2751643 OMIM: 613027 GeneReviews: Phosphorylase Kinase Deficiency
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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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 
Process Evidence Code Pubs
involved_in generation of precursor metabolites and energy TAS
Traceable Author Statement
more info
 PubMed 
involved_in glycogen biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in glycogen catabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in glycogen metabolic process TAS
Traceable Author Statement
more info
 PubMed 
involved_in positive regulation of glycogen catabolic process TAS
Traceable Author Statement
more info
 PubMed 
involved_in protein phosphorylation 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

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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_000294.3 → NP_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
    A8K0C7, B4DEB7, E9PEU3, P11800, P15735
    UniProtKB/TrEMBL
    J3KNN3
    Related
    ENSP00000455607.1, ENST00000563588.6
    Conserved Domains (1) summary
    cd14181
    Location:13 → 291
    STKc_PhKG2; Catalytic domain of the Serine/Threonine Kinase, Phosphorylase kinase Gamma 2 subunit

  2. NM_001172432.2 → NP_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/TrEMBL
    J3KNN3
    Related
    ENSP00000388571.3, ENST00000424889.7
    Conserved Domains (2) summary
    cd14181
    Location:13 → 291
    STKc_PhKG2; Catalytic domain of the Serine/Threonine Kinase, Phosphorylase kinase Gamma 2 subunit
    pfam00069
    Location:24 → 291
    Pkinase; Protein kinase domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    31135424..31148597
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P15735.1 GenPept UniProtKB/Swiss-Prot:P15735

Gene LinkOut

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