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    Phka2 phosphorylase kinase regulatory subunit alpha 2 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 678739, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Phka2provided by RGD
    Official Full Name
    phosphorylase kinase regulatory subunit alpha 2provided by RGD
    Primary source
    RGD:1596945
    See related
    EnsemblRapid:ENSRNOG00000003949 AllianceGenome:RGD:1596945
    Gene type
    protein coding
    RefSeq status
    INFERRED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Summary
    Predicted to enable calmodulin binding activity. Involved in protein phosphorylation. Part of phosphorylase kinase complex. Used to study glycogen storage disease IXa. Human ortholog(s) of this gene implicated in glycogen storage disease and glycogen storage disease IXa. Orthologous to human PHKA2 (phosphorylase kinase regulatory subunit alpha 2). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in Liver (RPKM 38.7), Spleen (RPKM 30.9) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Phka2 in Genome Data Viewer
    Location:
    Xq14
    Exon count:
    33
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) X NC_086039.1 (37979629..38102656, complement)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) X NC_051356.1 (34170959..34293498, complement)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) X NC_005120.4 (35970650..36926616, complement)

    Chromosome X - NC_086039.1Genomic Context describing neighboring genes Neighboring gene transfer RNA valine (anticodon UAC) Neighboring gene protein phosphatase with EF-hand domain 1 Neighboring gene metallothionein 1F Neighboring gene adhesion G protein-coupled receptor G2 Neighboring gene 60S ribosomal protein L15 pseudogene Neighboring gene ribosomal protein S27a, pseudogene 5

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

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    Related articles in PubMed

    1. Clinical and Molecular Variability in Patients with PHKA2 Variants and Liver Phosphorylase b Kinase Deficiency. Bali DS, et al. JIMD Rep, 2017. PMID 28283841, Free PMC Article
    2. Clinical and genetic characteristics of 17 Chinese patients with glycogen storage disease type IXa. Zhang J, et al. Gene, 2017 Sep 5. PMID 28627441
    3. Mutation hotspots in the PHKA2 gene in X-linked liver glycogenosis due to phosphorylase kinase deficiency with atypical activity in blood cells (XLG2). Burwinkel B, et al. Hum Mol Genet, 1996 May. PMID 8733134
    4. Mutations in the phosphorylase kinase gene PHKA2 are responsible for X-linked liver glycogen storage disease. Hendrickx J, et al. Hum Mol Genet, 1995 Jan. PMID 7711737
    5. Purification of rat liver phosphorylase kinase. Chrisman TD, et al. J Biol Chem, 1982 Sep 25. PMID 6809757

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables calmodulin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in glycogen metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of phosphorylase kinase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    phosphorylase b kinase regulatory subunit alpha, liver isoform
    Names
    phosphorylase kinase, alpha 2
    NP_001382568.1
    XP_008771417.1
    XP_008771418.1
    XP_008771419.1

    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.

    mRNA and Protein(s)

    1. NM_001395639.1 → NP_001382568.1  phosphorylase b kinase regulatory subunit alpha, liver isoform

      Status: INFERRED

      Source sequence(s)
      JAXUCZ010000021
      UniProtKB/TrEMBL
      A0A8I5ZWF0, A0A8I6A710
      Related
      ENSRNOP00000083353.1, ENSRNOT00000103405.2
      Conserved Domains (1) summary
      pfam00723
      Location:8 → 439
      Glyco_hydro_15; Glycosyl hydrolases family 15

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086039.1 Reference GRCr8

      Range
      37979629..38102656 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_008773197.4 → XP_008771419.1  phosphorylase b kinase regulatory subunit alpha, liver isoform isoform X3

      UniProtKB/TrEMBL
      A0A8I6A710
      Conserved Domains (1) summary
      pfam00723
      Location:8 → 339
      Glyco_hydro_15; Glycosyl hydrolases family 15

    2. XM_008773195.4 → XP_008771417.1  phosphorylase b kinase regulatory subunit alpha, liver isoform isoform X1

      UniProtKB/TrEMBL
      A0A8I5ZLG9, A0A8I6A710
      Related
      ENSRNOP00000078653.1, ENSRNOT00000116420.2
      Conserved Domains (1) summary
      pfam00723
      Location:8 → 439
      Glyco_hydro_15; Glycosyl hydrolases family 15

    3. XM_008773196.4 → XP_008771418.1  phosphorylase b kinase regulatory subunit alpha, liver isoform isoform X2

      UniProtKB/TrEMBL
      A0A8I6A710
      Conserved Domains (1) summary
      pfam00723
      Location:9 → 381
      Glyco_hydro_15; Glycosyl hydrolases family 15

    RNA

    1. XR_005498059.2 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001190994.1: Suppressed sequence

      Description
      NM_001190994.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein Strain
    Heading Accession and Version

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