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    Phka2 phosphorylase kinase alpha 2 [ Mus musculus (house mouse) ]

    Gene ID: 110094, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Phka2provided by MGI
    Official Full Name
    phosphorylase kinase alpha 2provided by MGI
    Primary source
    MGI:MGI:97577
    See related
    Ensembl:ENSMUSG00000031295 AllianceGenome:MGI:97577
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Phk; D330034O08; 6330505C01Rik
    Summary
    Predicted to enable calmodulin binding activity. Predicted to be involved in glycogen metabolic process. Predicted to act upstream of or within carbohydrate metabolic process. Predicted to be located in plasma membrane. Predicted to be part of phosphorylase kinase complex. Is expressed in several structures, including adipose tissue; cardiovascular system; exocrine gland; female reproductive system; and respiratory system. 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, Apr 2022]
    Expression
    Ubiquitous expression in subcutaneous fat pad adult (RPKM 8.8), mammary gland adult (RPKM 8.3) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    X F4; X 73.95 cM
    Exon count:
    37
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) X NC_000086.8 (159284900..159384772)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (160501904..160598879)

    Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene abl-interactor 1 pseudogene Neighboring gene adhesion G protein-coupled receptor G2 Neighboring gene STARR-seq mESC enhancer starr_48182 Neighboring gene predicted gene 15241 Neighboring gene STARR-seq mESC enhancer starr_48183 Neighboring gene protein phosphatase with EF hand calcium-binding domain 1 Neighboring gene STARR-seq mESC enhancer starr_48184 Neighboring gene nuclear encoded tRNA valine 3 (anticodon TAC) Neighboring gene retinoschisis (X-linked, juvenile) 1 (human)

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. X-linked dominant inheritance of partial phosphorylase kinase deficiency in mice. Varsányi M, et al. Biochem Genet, 1980 Apr. PMID 7447922
    2. The molecular basis of skeletal muscle phosphorylase kinase deficiency. Cohen PT, et al. Eur J Biochem, 1976 Jul 1. PMID 820556
    3. X-linked liver glycogenosis type II (XLG II) is caused by mutations in PHKA2, the gene encoding the liver alpha subunit of phosphorylase kinase. Hendrickx J, et al. Hum Mol Genet, 1996 May. PMID 8733133
    4. Isolation of cDNA clones for the catalytic gamma subunit of mouse muscle phosphorylase kinase: expression of mRNA in normal and mutant Phk mice. Chamberlain JS, et al. Proc Natl Acad Sci U S A, 1987 May. PMID 3472241, Free PMC Article
    5. Location of phosphorylase kinase (Phk) in the mouse X chromosome. Huijing F, et al. Biochem Genet, 1973 Jun. PMID 4726088

    See all (28) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (2) 

    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 MGI

    Function Evidence Code Pubs
    enables calmodulin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within carbohydrate metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in carbohydrate metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within glycogen metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in glycogen metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of phosphorylase kinase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of phosphorylase kinase complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    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 L subunit
    NP_001171349.1
    NP_001171350.1
    NP_001345895.1
    NP_001345897.1
    NP_766371.1
    XP_006528742.1
    XP_011246073.1
    XP_030107054.1

    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_001177878.2 → NP_001171349.1  phosphorylase b kinase regulatory subunit alpha, liver isoform isoform b

      Status: VALIDATED

      Source sequence(s)
      AK052992, AL731801
      Consensus CDS
      CCDS53237.1
      UniProtKB/TrEMBL
      A2AHQ7
      Related
      ENSMUSP00000107999.3, ENSMUST00000112380.9
      Conserved Domains (1) summary
      pfam00723
      Location:8 → 439
      Glyco_hydro_15; Glycosyl hydrolases family 15

    2. NM_001177879.2 → NP_001171350.1  phosphorylase b kinase regulatory subunit alpha, liver isoform isoform a

      See identical proteins and their annotated locations for NP_001171350.1

      Status: VALIDATED

      Source sequence(s)
      AK052346, AK165506, AL731801
      Consensus CDS
      CCDS30504.1
      UniProtKB/Swiss-Prot
      Q3TN65, Q810J6, Q8BWJ3
      Related
      ENSMUSP00000107996.2, ENSMUST00000112377.8
      Conserved Domains (1) summary
      pfam00723
      Location:8 → 439
      Glyco_hydro_15; Glycosyl hydrolases family 15

    3. NM_001358966.1 → NP_001345895.1  phosphorylase b kinase regulatory subunit alpha, liver isoform isoform c

      Status: VALIDATED

      Source sequence(s)
      AL731801, AL732450
      Conserved Domains (2) summary
      pfam00723
      Location:8 → 439
      Glyco_hydro_15; Glycosyl hydrolases family 15
      cl25463
      Location:802 → 919
      Glyco_hydro_15; Glycosyl hydrolases family 15

    4. NM_001358968.1 → NP_001345897.1  phosphorylase b kinase regulatory subunit alpha, liver isoform isoform d

      Status: VALIDATED

      Source sequence(s)
      AL731801, BC058254
      Consensus CDS
      CCDS90771.1
      UniProtKB/TrEMBL
      Q6PE66
      Related
      ENSMUSP00000107995.2, ENSMUST00000112376.2
      Conserved Domains (1) summary
      pfam00723
      Location:8 → 439
      Glyco_hydro_15; Glycosyl hydrolases family 15

    5. NM_172783.4 → NP_766371.1  phosphorylase b kinase regulatory subunit alpha, liver isoform isoform a

      See identical proteins and their annotated locations for NP_766371.1

      Status: VALIDATED

      Source sequence(s)
      AK052346, AL731801, BB662591
      Consensus CDS
      CCDS30504.1
      UniProtKB/Swiss-Prot
      Q3TN65, Q810J6, Q8BWJ3
      Related
      ENSMUSP00000033652.3, ENSMUST00000033652.9
      Conserved Domains (1) summary
      pfam00723
      Location:8 → 439
      Glyco_hydro_15; Glycosyl hydrolases family 15

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000086.8 Reference GRCm39 C57BL/6J

      Range
      159284900..159384772
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006528679.5 → XP_006528742.1  phosphorylase b kinase regulatory subunit alpha, liver isoform isoform X1

      See identical proteins and their annotated locations for XP_006528742.1

      UniProtKB/Swiss-Prot
      Q8BWJ3
      Conserved Domains (2) summary
      pfam00723
      Location:14 → 444
      Glyco_hydro_15; Glycosyl hydrolases family 15
      cl25463
      Location:807 → 924
      Glyco_hydro_15; Glycosyl hydrolases family 15

    2. XM_030251194.2 → XP_030107054.1  phosphorylase b kinase regulatory subunit alpha, liver isoform isoform X2

      Conserved Domains (1) summary
      cl25463
      Location:1 → 257
      Glyco_hydro_15; Glycosyl hydrolases family 15

    3. XM_011247771.2 → XP_011246073.1  phosphorylase b kinase regulatory subunit alpha, liver isoform isoform X3

      Conserved Domains (1) summary
      cl25463
      Location:239 → 356
      Glyco_hydro_15; Glycosyl hydrolases family 15

    RNA

    1. XR_001782730.3 RNA Sequence

    2. XR_004940318.1 RNA Sequence

    3. XR_387078.5 RNA Sequence

    4. XR_001782731.2 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8BWJ3.1 GenPept UniProtKB/Swiss-Prot:Q8BWJ3

    Gene LinkOut

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