About   Help   FAQ
Pygm Gene Detail
Summary
  • Symbol
    Pygm
  • Name
    muscle glycogen phosphorylase
  • Synonyms
    PG
  • Feature Type
    protein coding gene
  • IDs
    MGI:97830
    NCBI Gene: 19309
Location & Maps
more
  • Sequence Map
    Chr19:6384399-6398459 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      14061 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 19, 4.53 cM
  • Mapping Data
    7 experiments
Homology
more
  • Human Ortholog
    PYGM, phosphorylase, glycogen, muscle
  • Vertebrate Orthologs
    9
  • Human Ortholog
    PYGM, phosphorylase, glycogen, muscle
    Orthology source: HGNC, HomoloGene
  • Links
    NCBI Gene ID: 5837
    neXtProt AC: NX_P11217

  • Chr Location
    11q13.1; chr11:64746389-64760715 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Pygm mouse models; 1 with human PYGM associations

Human Disease Mouse Models
       Glycogen Storage Disease V; GSD5   OMIM: 232600 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    6 phenotypes from 1 allele in 1 genetic background
    7 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for a null mutation exhibit massive muscle glycogen accumulation, elevated creatine kinase levels in blood, and very poor exercise performance.
Gene Ontology
(GO)
Classifications
less
  • 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
less
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
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000018613 VEGA Gene Model | MGI Sequence Detail 14061 C57BL/6J ±  kb
transcript OTTMUST00000044793 VEGA | MGI Sequence Detail 2874 Not Applicable  
polypeptide OTTMUSP00000020157 VEGA | MGI Sequence Detail 842 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    77 from dbSNP Build 142
  • RFLP
Protein
Information
less
  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000013522 glycogen phosphorylase, muscle form
  • EC
  • InterPro Domains
    IPR011833 Glycogen/starch/alpha-glucan phosphorylase
    IPR000811 Glycosyl transferase, family 35
Molecular
Reagents
less
  • All nucleic 52
    cDNA 51
    Primer pair 1

    Microarray probesets 4
Other
Accession IDs
less
MGD-MRK-13703, MGI:2147475
References
more
  • Summaries
    All 45
    Developmental Gene Expression 3
    Diseases 2
    Gene Ontology 10
    Phenotypes 7
  • Earliest
    J:10246 Glaser T, et al., Localization of the muscle, liver, and brain glycogen phosphorylase genes on linkage maps of mouse chromosomes 19, 12, and 2, respectively. Genomics. 1989 Oct;5(3):510-21
  • Latest
    J:221348 de Luna N, et al., Sodium valproate increases the brain isoform of glycogen phosphorylase: looking for a compensation mechanism in McArdle disease using a mouse primary skeletal-muscle culture in vitro. Dis Model Mech. 2015 May 1;8(5):467-72

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
06/15/2016
MGI 6.04
The Jackson Laboratory