PGAM2 Gene

Aliases
for PGAM2 gene

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Previous GC identifers: GC07M043748 GC07M043809 GC07M043843 GC07M043875 GC07M044069 GC07M043987

Summaries
for PGAM2 gene

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Genomic Views
for PGAM2 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:

NC_000007.13  NC_018918.2  NT_007819.18  

SwitchGear Promoter luciferase reporter plasmid: PGAM2 promoter sequence

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PGAM2

PGAM2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)


GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M044102:  view genomic region     (about GC identifiers)

Proteins
for PGAM2 gene

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, antibodies-online, and/or GeneTex,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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Explore the universe of human proteins at neXtProt for PGAM2: NX_P15259

Explore proteomics data for PGAM2 at MOPED

Post-translational modifications: 

PGAM2 Human Recombinant Protein Products:

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	GeneTex Proteins for PGAM2:                       PGAM2 Protein (GTX109582-pro)
	antibodies-online proteins for PGAM2 (7 products)
	antibodies-online peptides for PGAM2

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	antibodies-online kits for PGAM2 (23 products)

Domains /
Families
for PGAM2 gene

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GenesLikeMe)
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ProtoNet protein and cluster: P15259

Find genes that share domains with PGAM2           About GenesLikeMe

Function
for PGAM2 gene

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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     Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

genOway: Develop your customized and physiologically relevant rodent model for PGAM2

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Gene Editing Products:

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In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PGAM2

Localization
for PGAM2 gene

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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Subcellular locations from COMPARTMENTS: 

Compartment	Confidence
cytosol	4
nucleus	2
chloroplast	1
cytoskeleton	1
mitochondrion	1

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Gene Ontology (GO): 3 cellular component terms:    About this table

Pathways & Interactions
for PGAM2 gene

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GenesLikeMe, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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SuperPaths for PGAM2 About   (see all 9)   See pathways by source

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	SuperPath	Contained pathways About
1	Glycolysis and gluconeogenesis (short map)	Glycolysis and gluconeogenesis (short map) 0.58 Glycolysis 0.39 Glycolysis and Gluconeogenesis 0.58 gluconeogenesis 0.38 Glycolysis / Gluconeogenesis 0.46 glycolysis 0.00
2	Metabolism	Metabolism 0.38 Metabolic pathways 0.38
3	Glucose metabolism	Glucose metabolism 0.44 Gluconeogenesis 0.44
4	Carbon metabolism	Carbon metabolism 0.38 Biosynthesis of amino acids 0.38
5	MPS VI - Maroteaux-Lamy syndrome	Metabolism of carbohydrates 0.45

2 GeneGo (Thomson Reuters) Pathways for PGAM2

	Development Role of HDAC and calcium/calmodulin-dependent kinase (CaMK) in control of skeletal myogenesis
	Glycolysis and gluconeogenesis (short map)

5 BioSystems Pathways for PGAM2

	Glycolysis and Gluconeogenesis
	Rapoport-Luebering glycolytic shunt
	glycolysis
	gluconeogenesis
	conversion of glucose to acetyl CoA and entry into the TCA cycle

2 Reactome Pathways for PGAM2

	Gluconeogenesis
	Glycolysis

5 Kegg Pathways  (Kegg details for PGAM2)

	Glycolysis / Gluconeogenesis
	Glycine, serine and threonine metabolism
	Metabolic pathways
	Carbon metabolism
	Biosynthesis of amino acids

Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

Drugs & Compounds
for PGAM2 gene

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, Sets of similar genes according to GenesLikeMe)
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Transcripts
for PGAM2 gene

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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Expression
for PGAM2 gene

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GenesLikeMe, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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PGAM2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: GAGGCTGTGG

About this image

Limb (Muscoskeletal System)    fully expand to see all 5 entries
Interzone Cells Stylopod Synovial Joint
Zeugopod
Brain (Nervous System)    fully expand to see all 5 entries
Cerebral Cortex
Heart (Cardiovascular System)    fully expand to see all 3 entries
Primitive Heart Tube Cells Primitive Heart Tube
Heart Tube
Neural Tube (Nervous System)    fully expand to see all 3 entries
Metencephalon
Thymus (Hematopoietic System)
Thymus

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		Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PGAM2
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In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PGAM2

Orthologs
for PGAM2 gene

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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Paralogs
for PGAM2 gene

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68,Sets of similar genes according to GenesLikeMe)
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Paralogs for PGAM2 gene

BPGM²  PGAM1²  PGAM4²  

3 SIMAP similar genes for PGAM2 using alignment to 2 protein entries:     PGAM2_HUMAN (see all proteins):

PGAM1    PGAM4    BPGM

Find genes that share paralogs with PGAM2           About GenesLikeMe

Genomic Variants
for PGAM2 gene

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for PGAM2 (see all 168)    About this table

Genomic Data					Transcription Related Data				Allele Frequencies
SNP ID	Valid	Clinical significance	Chr 7 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	--	--	--	-1st2nd3rd	--	--	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd
VAR_0060884		Glycogen storage disease 10 (GSD10)4	--	see VAR_006088	2	E A	mis4		0	--	--	--	--
VAR_0060894		Glycogen storage disease 10 (GSD10)4	--	see VAR_006089	2	R W	mis4		0	--	--	--	--
VAR_0131034		Glycogen storage disease 10 (GSD10)4	--	see VAR_013103	2	G D	mis4		0	--	--	--	--
rs779387271,2	C	pathogenic1	44080113(+)	TGAGGC/TCTGTG	2	D G	mis1		0	--	--	--	--
rs1048940341,2	C	pathogenic1	44080135(-)	ATGAGC/TGGCAT	2	R W	mis1		0	--	--	--	--
rs1048940301,2	C	pathogenic1	44080137(-)	CAATGA/CGCGGC	2	E A	mis1		1		EU	1323
rs102507791,2	C,F,H	pathogenic1	44080170(-)	GATGTG/AGCTGC	2	/* /W	stg1 ese3		7		NS EA NA	4974
rs754953291,2	C,F	--	44077108(+)	AACTTC/GCCCTC	1	--	ds5001		1		EA	120
rs117628811,2	C,H	--	44077124(+)	CCATGG/TAAGAC	1	--	ds5001		7		NS EA NA	604
rs1480158041,2		--	44077213(+)	CACCCA/GGGGGT	1	--	ds5001		0	--	--	--	--

HapMap Linkage Disequilibrium report for PGAM2 (44102326 - 44105186 bp)

Structural Variations
     Database of Genomic Variants (DGV) 5 variations for PGAM2:    About this table    

Variant ID	Type	Subtype	PubMed ID
nsv887996	CNV	Loss	21882294
nsv470210	CNV	Loss	18288195
nsv830980	CNV	Loss	17160897
nsv428165	CNV	Gain	18775914
nsv8082	CNV	Gain	18304495

Human Gene Mutation Database (HGMD): PGAM2

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing PGAM2

DNA2.0 Custom Variant and Variant Library Synthesis for PGAM2

Disorders / Diseases
for PGAM2 gene

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB, Sets of similar genes according to GenesLikeMe)
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Glycogen storage disease 10 (GSD10) [MIM:261670]: A metabolic disorder characterized by myoglobinuria,

increased serum creatine kinase levels, decreased phosphoglycerate mutase activity, myalgia, muscle pain, muscle

cramps, exercise intolerance. Note=The disease is caused by mutations affecting the gene represented in this

entry

2 diseases for PGAM2:    
About MalaCards

1 Novoseek inferred disease relationship for PGAM2 gene    About this table

Publications
for PGAM2 gene

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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1. Manifesting heterozygotes in a Japanese family with a novel mutation in the muscle-specific phosphoglycerate mutase (PGAM-M) gene. (PubMed id 10545043)^{1, 2, 9} Hadjigeorgiou G.M.... DiMauro S. (Neuromuscul. Disord. 1999)
2. Isolation and characterization of the gene encoding the muscle- specific isozyme of human phosphoglycerate mutase. (PubMed id 2145198)^{1, 2, 9} Castella-Escola J.... Cohen-Solal M. (Gene 1990)
3. The molecular genetic basis of muscle phosphoglycerate mutase (PGAM) deficiency. (PubMed id 8447317)^{1, 2, 9} Tsujino S.... Dimauro S. (Am. J. Hum. Genet. 1993)
4. Tryptic digestion of ubiquitin standards reveals an improved strategy for identifying ubiquitinated proteins by mass spectrometry. (PubMed id 17370265)^{1, 2} Denis N.J.... Figeys D. (Proteomics 2007)
5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S.... Malek J. (Genome Res. 2004)
6. Structure of the gene encoding the muscle-specific subunit of human phosphoglycerate mutase. (PubMed id 2549058)^{1, 2} Tsujino S.... Schon E.A. (J. Biol. Chem. 1989)
7. Isolation of a cDNA encoding the muscle-specific subunit of human phosphoglycerate mutase. (PubMed id 2822696)^{1, 2} Shanske S.... Schon E.A. (J. Biol. Chem. 1987)
8. In situ mapping of the muscle-specific form of phosphoglycerate mutase gene to human chromosome 7p12-7p13. (PubMed id 2153628)^{1, 9} Castella-Escola J....Cohen-Solal M. (Hum. Genet. 1990)
9. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)¹ Udeshi N.D....Carr S.A. (amp 2012)
10. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)¹ Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)

External Searches for PGAM2 gene

Genome Databases showing PGAM2 gene

Other Databases showing PGAM2 gene

Specialized Databases showing PGAM2 gene

Products
for PGAM2 gene

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, GeneTex, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from genOway)
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