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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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See Phka2 in Genome Data Viewer
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

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