Pygm MGI Mouse Gene Detail - MGI:97830 - muscle glycogen phosphorylase

Pygm Gene Detail

Symbol

Pygm
Name

muscle glycogen phosphorylase
Synonyms

PG

Feature Type

protein coding gene
IDs

MGI:97830
NCBI Gene: 19309

Sequence Map

Chr19:6384399-6398459 bp, + strand
From VEGA annotation of GRCm38

Mouse Genome Browser
Download
Sequence

14061 bp ± kb flank
Genome Browsers

VEGA | Ensembl | UCSC | NCBI

Genetic Map

Chromosome 19, 4.53 cM
Mapping Data

7 experiments

Human Ortholog

PYGM, phosphorylase, glycogen, muscle

Vertebrate Orthologs

9

Human Ortholog

PYGM, phosphorylase, glycogen, muscle
Orthology source: HomoloGene, HGNC
Links

HGNC:9726

NCBI Gene ID: 5837

neXtProt AC: NX_P11217
Chr Location

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

HomoloGene

Vertebrate Homology Class 2145
1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 zebrafish;1 frog, western clawed
HCOP

human homology predictions: PYGM
Protein SuperFamily

glucan phosphorylase
Gene Tree

Pygm

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

less

Phenotype Summary

6 phenotypes from 1 allele in 1 genetic background
7 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

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.

All Mutations and Alleles

8
Gene trapped

3
Targeted

5
Incidental Mutations

Mutagenetix , APF , CvDC

Mice homozygous for a null mutation exhibit massive muscle glycogen accumulation, elevated creatine kinase levels in blood, and very poor exercise performance.

less

All GO Annotations

30
GO References

10

External Resources

FuncBase

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.

less

Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

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

182
Tissues

49
cDNA Data

49
Literature Summary

3

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO
Other Vertebrate Links

Xenbase pygm

ZFIN pygma, pygmb

less

Pygm interacts with 54 markers (Mir1b, Mir7b, Mir23a, ...) View All

less

All Sequences

27
RefSeq

2
UniProt

3
CCDS

CCDS29504.1
UniGene

27806

			Length	Strain/Species	Flank
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

less

SNPs within 2kb

77 from dbSNP Build 142

RFLP

4

less

UniProt

3 Sequences
Protein Ontology

PR:000013522 glycogen phosphorylase, muscle form
EC

2.4.1.1
InterPro Domains

IPR011833 Glycogen/starch/alpha-glucan phosphorylase

IPR000811 Glycosyl transferase, family 35

less

All nucleic 52

cDNA 51

Primer pair 1

Microarray probesets 4

less

MGD-MRK-13703, MGI:2147475

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 09/27/2016 MGI 6.05