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Phka2
Gene Detail
 Symbol
Name
ID
Phka2
phosphorylase kinase alpha 2
MGI:97577
Synonyms 6330505C01Rik, k, Phk
Feature Type protein coding gene
Genetic Map
Chromosome X
73.95 cM, cytoband F3-F4
Detailed Genetic Map ± 1 cM


Mapping data(5)
Sequence Map
ChrX:160502166-160598878 bp, + strand
From VEGA annotation of GRCm38

  96713 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:246  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Protein SuperFamily: phosphorylase b kinase, regulatory subunit alpha
Gene Tree: Phka2

Human
homologs
Human Homolog PHKA2, phosphorylase kinase, alpha 2 (liver)
NCBI Gene ID 5256
neXtProt AC  NX_P46019
Human Synonyms  GSD9A, PHK, PYK, PYKL, XLG, XLG2
Human Chr (Location)  Xp22.2-p22.1; chrX:18892298-18984362 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human PHKA2
Mutations,
alleles, and
phenotypes
All mutations/alleles(5) : Gene trapped(3) Spontaneous(1) Targeted(1)
Genomic Mutations involving Phka2 (1)
Interactions
Phka2 interacts with 91 markers (Mir15a, Mir24-1, Mir24-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (13 annotations)
Process carbohydrate metabolic process, glycogen metabolic process, ...
Component membrane, phosphorylase kinase complex, ...
Function calmodulin binding, catalytic activity, ...
External Resources: FuncBase
Expression
Literature Summary: (2 records)
Data Summary: Results (100)    Tissues (95)   
Theiler Stages: 22, 28
Assay TypeResults
RNA in situ 94
RT-PCR 6
cDNA source data(16)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(19) cDNA(17) Primer pair(2)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000019587 (Evidence)
Ensembl Gene ModelENSMUSG00000031295 (Evidence)
Entrez Gene110094 (Evidence)
DFCITC1579123, TC1586158, TC1614131, TC1624894, TC1705630, TC1759908
DoTSDT.101360068, DT.101372207, DT.101720691, DT.528901, DT.55266379, DT.91383770, DT.94150376, DT.94183158
NIA Mouse Gene IndexU020368
EC2.7.1.38
Consensus CDS ProjectCCDS30504.1, CCDS53237.1
International Mouse Knockout Project StatusPhka2
Sequences
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 sequences
All sequences(86) RefSeq(15) UniProt(5)
Polymorphisms RFLP(1) : SNPs within 2kb(320 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR011613 Glycoside hydrolase family 15
InterPro IPR008734 Phosphorylase kinase alpha/beta subunit
InterPro IPR012341 Six-hairpin glycosidase
InterPro IPR008928 Six-hairpin glycosidase-like
Protein Ontology PR:000012659 phosphorylase b kinase regulatory subunit alpha, liver isoform
References (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
All references(41)
Other
accession IDs
MGD-MRK-11547, MGD-MRK-13293, MGD-MRK-13296, MGI:1923403, MGI:97575

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
09/23/2014
MGI 5.19
The Jackson Laboratory