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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
    		Compare labs

    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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