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Phka2 Gene Detail
Summary
  • Symbol
    Phka2
  • Name
    phosphorylase kinase alpha 2
  • Synonyms
    6330505C01Rik, k, Phk
  • Feature Type
    protein coding gene
  • IDs
    MGI:97577
    NCBI Gene: 110094
  • Gene Overview
    MyGene.info: PHKA2
Location & Maps
more
  • Sequence Map
    ChrX:160502166-160598878 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      96713 bp   ±  kb flank

  • Genome Browsers
Homology
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  • Human Ortholog
    PHKA2, phosphorylase kinase, alpha 2 (liver)
  • Vertebrate Orthologs
    10
  • Human Ortholog
    PHKA2, phosphorylase kinase, alpha 2 (liver)
    Orthology source: HomoloGene
  • Synonyms
    GSD9A, PHK, PYK, PYKL, XLG, XLG2
  • Links
    NCBI Gene ID: 5256
    neXtProt AC: NX_P46019

  • Chr Location
    Xp22.2-p22.1; chrX:18892298-18984362 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human PHKA2 associations

Human Disease Mouse Models
       Glycogen Storage Disease Ixa1; GSD9A1   OMIM: 306000
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    6 phenotype references
  • All Mutations and Alleles
    6
  • Gene trapped
    3
  • Spontaneous
    1
  • Targeted
    2
  • Genomic Mutations
    1 involving Phka2
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000019587 VEGA Gene Model | MGI Sequence Detail 96713 C57BL/6J ±  kb
transcript OTTMUST00000046788 VEGA | MGI Sequence Detail 4133 Not Applicable  
polypeptide OTTMUSP00000021158 VEGA | MGI Sequence Detail 1235 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    320 from dbSNP Build 142
  • RFLP
Protein
Information
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  • UniProt
    5 Sequences
  • Protein Ontology
    PR:000012659 phosphorylase b kinase regulatory subunit alpha, liver isoform
  • EC
  • InterPro Domains
    IPR011613 Glycoside hydrolase family 15/Phosphorylase b kinase regulatory chain family
    IPR008734 Phosphorylase kinase alpha/beta subunit
    IPR012341 Six-hairpin glycosidase
    IPR008928 Six-hairpin glycosidase-like
Molecular
Reagents
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  • All nucleic 19
    cDNA 17
    Primer pair 2

    Microarray probesets 4
Other
Accession IDs
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MGD-MRK-11547, MGD-MRK-13293, MGD-MRK-13296, MGI:1923403, MGI:97575
References
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  • Summaries
    All 37
    Developmental Gene Expression 2
    Gene Ontology 4
    Phenotypes 6
  • Earliest
    J:5367 Huijing F, et al., Location of phosphorylase kinase (Phk) in the mouse X chromosome. Biochem Genet. 1973 Jun;9(2):193-6
  • Latest
    J:147857 Liu SP, et al., Glycine N-methyltransferase-/- mice develop chronic hepatitis and glycogen storage disease in the liver. Hepatology. 2007 Nov;46(5):1413-25

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/26/2016
MGI 6.03
The Jackson Laboratory