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Aliases for PGAM4 Gene

Aliases for PGAM4 Gene

  • Phosphoglycerate Mutase Family Member 4 2 3 5
  • PGAM3 3 4
  • Phosphoglycerate Mutase Processed Protein 3
  • Probable Phosphoglycerate Mutase 4 3
  • Phosphoglycerate Mutase Family 3 3
  • Phosphoglycerate Mutase Family 4 2
  • Phosphoglycerate Mutase 4 3
  • DJ1000K24.1 3
  • EC 4
  • EC 4
  • PGAM-B 3
  • PGAM1 3

External Ids for PGAM4 Gene

Previous GeneCards Identifiers for PGAM4 Gene

  • GC0XM9L0730
  • GC0XM077110
  • GC0XM077223
  • GC0XM070810

Summaries for PGAM4 Gene

Entrez Gene Summary for PGAM4 Gene

  • This intronless gene appears to have arisen from a retrotransposition event, yet it is thought to be an expressed, protein-coding gene. The encoded protein is a member of the phosphoglycerate mutase family, a set of enzymes that catalyze the transfer of a phosphate group from 3-phosphoglycerate to 2-phosphoglycerate. [provided by RefSeq, May 2010]

GeneCards Summary for PGAM4 Gene

PGAM4 (Phosphoglycerate Mutase Family Member 4) is a Protein Coding gene. Diseases associated with PGAM4 include Menkes Disease. Among its related pathways are Central carbon metabolism in cancer and Citrate cycle (TCA cycle). Gene Ontology (GO) annotations related to this gene include intramolecular transferase activity, phosphotransferases and bisphosphoglycerate 2-phosphatase activity. An important paralog of this gene is PGAM1.

Additional gene information for PGAM4 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PGAM4 Gene

Genomics for PGAM4 Gene

GeneHancer (GH) Regulatory Elements for PGAM4 Gene

Promoters and enhancers for PGAM4 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ077970 Enhancer 0.3 FANTOM5 650.7 -1.1 -1143 0 PGAM4 GC0XP078007 ATP7A PGK1
GH0XJ077975 Enhancer 0.5 ENCODE 0.4 -6.4 -6382 0.2 JUN STAT3 CEBPB EP300 TCF7L2 PGAM4 GC0XP078007 ATP7A PGK1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PGAM4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PGAM4 gene promoter:

Genomic Locations for PGAM4 Gene

Genomic Locations for PGAM4 Gene
1,678 bases
Minus strand

Genomic View for PGAM4 Gene

Genes around PGAM4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PGAM4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PGAM4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PGAM4 Gene

Proteins for PGAM4 Gene

  • Protein details for PGAM4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Probable phosphoglycerate mutase 4
    Protein Accession:
    Secondary Accessions:
    • Q5JPN2
    • Q8NI24
    • Q8NI25
    • Q8NI26

    Protein attributes for PGAM4 Gene

    254 amino acids
    Molecular mass:
    28777 Da
    Quaternary structure:
    No Data Available
    • This is the product of a processed gene created by retroposition from mRNA of an expressed gene. This gene seems to be expressed.

neXtProt entry for PGAM4 Gene

Post-translational modifications for PGAM4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PGAM4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PGAM4 Gene

Domains & Families for PGAM4 Gene

Gene Families for PGAM4 Gene

Suggested Antigen Peptide Sequences for PGAM4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the phosphoglycerate mutase family. BPG-dependent PGAM subfamily.
  • Belongs to the phosphoglycerate mutase family. BPG-dependent PGAM subfamily.
genes like me logo Genes that share domains with PGAM4: view

Function for PGAM4 Gene

Molecular function for PGAM4 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
2-phospho-D-glycerate = 3-phospho-D-glycerate.
UniProtKB/Swiss-Prot CatalyticActivity:
3-phospho-D-glyceroyl phosphate = 2,3-bisphospho-D-glycerate.

Enzyme Numbers (IUBMB) for PGAM4 Gene

Gene Ontology (GO) - Molecular Function for PGAM4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004082 bisphosphoglycerate mutase activity IEA --
GO:0004619 phosphoglycerate mutase activity NAS 11961099
GO:0016787 hydrolase activity IEA --
GO:0016853 isomerase activity IEA --
GO:0016868 intramolecular transferase activity, phosphotransferases IEA --
genes like me logo Genes that share ontologies with PGAM4: view

Phenotypes for PGAM4 Gene

genes like me logo Genes that share phenotypes with PGAM4: view

Animal Model Products

CRISPR Products

miRNA for PGAM4 Gene

miRTarBase miRNAs that target PGAM4

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PGAM4

Clone Products

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PGAM4 Gene

Localization for PGAM4 Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PGAM4 gene
Compartment Confidence
extracellular 5
cytosol 4
plasma membrane 2
nucleus 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PGAM4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol IBA --
GO:0070062 extracellular exosome HDA 23533145
GO:0097228 sperm principal piece IDA 22590500
genes like me logo Genes that share ontologies with PGAM4: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PGAM4 Gene

Pathways & Interactions for PGAM4 Gene

genes like me logo Genes that share pathways with PGAM4: view

Gene Ontology (GO) - Biological Process for PGAM4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006094 gluconeogenesis IBA --
GO:0006096 glycolytic process NAS 11961099
GO:0008152 metabolic process IEA --
GO:0043456 regulation of pentose-phosphate shunt IBA --
GO:1902093 positive regulation of flagellated sperm motility NAS 22590500
genes like me logo Genes that share ontologies with PGAM4: view

No data available for SIGNOR curated interactions for PGAM4 Gene

Drugs & Compounds for PGAM4 Gene

(4) Drugs for PGAM4 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
2-phospho-D-glyceric acid Experimental Pharma 0
3-Phosphoglyceric acid Experimental Pharma 0

(3) Additional Compounds for PGAM4 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
2,3-Diphosphoglyceric acid
  • 2,3-bisphospho-D-Glycerate
  • 2,3-Bisphosphoglyceric acid
  • 2,3-BPG
  • 2,3-disphospho-D-Glycerate
  • D-Greenwald ester
2-Phosphoglyceric acid
  • 3-Hydroxy-2-(phosphonooxy)propanoic acid
  • 3-Hydroxy-2-(phosphonooxy)propanoate
  • 2-Phosphoglycerate
  • 2-(Dihydrogen phosphate)glycerate
  • 2-(Dihydrogen phosphate)glyceric acid
Glyceric acid 1,3-biphosphate
  • 1,3-Biphosphoglycerate
  • 1,3-Biphosphoglyceric acid
  • 1,3-Bis-phosphoglycerate
  • 1,3-Bisphosphoglycerate
  • 1,3-Diphosphateglycerate
genes like me logo Genes that share compounds with PGAM4: view

Transcripts for PGAM4 Gene

mRNA/cDNA for PGAM4 Gene

(24) Selected AceView cDNA sequences:
(0) Additional mRNA sequences :
(1) REFSEQ mRNAs :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PGAM4 Gene

Phosphoglycerate mutase family member 4:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PGAM4

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PGAM4 Gene

No ASD Table

Relevant External Links for PGAM4 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PGAM4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PGAM4 Gene

Protein differential expression in normal tissues from HIPED for PGAM4 Gene

This gene is overexpressed in Lung (34.4), Lavage (12.2), and Brain (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PGAM4 Gene

Protein tissue co-expression partners for PGAM4 Gene

NURSA nuclear receptor signaling pathways regulating expression of PGAM4 Gene:


SOURCE GeneReport for Unigene cluster for PGAM4 Gene:


Evidence on tissue expression from TISSUES for PGAM4 Gene

  • Nervous system(2.5)
  • Eye(2)
genes like me logo Genes that share expression patterns with PGAM4: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PGAM4 Gene

Orthologs for PGAM4 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PGAM4 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PGAM4 33
  • 99.34 (n)
(Bos Taurus)
Mammalia PGAM1 34
  • 96 (a)
(Mus musculus)
Mammalia Pgam1 34
  • 95 (a)
(Canis familiaris)
Mammalia PGAM4 34
  • 95 (a)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 93 (a)
(Monodelphis domestica)
Mammalia -- 34
  • 75 (a)
(Gallus gallus)
Aves PGAM1 34
  • 90 (a)
(Anolis carolinensis)
Reptilia -- 34
  • 88 (a)
(Danio rerio)
Actinopterygii pgam1a 34
  • 87 (a)
pgam1b 34
  • 87 (a)
fruit fly
(Drosophila melanogaster)
Insecta Pglym78 34
  • 65 (a)
Pglym87 34
  • 52 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GPM1 34
  • 49 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4977 34
  • 60 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes gpm1 33
  • 55.09 (n)
Species where no ortholog for PGAM4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PGAM4 Gene

Gene Tree for PGAM4 (if available)
Gene Tree for PGAM4 (if available)
Evolutionary constrained regions (ECRs) for PGAM4: view image

Paralogs for PGAM4 Gene

Paralogs for PGAM4 Gene

(3) SIMAP similar genes for PGAM4 Gene using alignment to 1 proteins:

  • PGAM4_HUMAN Pseudogenes for PGAM4 Gene

genes like me logo Genes that share paralogs with PGAM4: view

Variants for PGAM4 Gene

Sequence variations from dbSNP and Humsavar for PGAM4 Gene

SNP ID Clin Chr 0X pos Variation AA Info Type
rs376654190 benign, not provided 77,968,990(-) C/A/T coding_sequence_variant, missense_variant
rs1005227953 -- 77,967,940(-) T/C downstream_transcript_variant
rs1009079114 -- 77,970,376(-) A/G upstream_transcript_variant
rs1011025794 -- 77,970,825(-) G/A upstream_transcript_variant
rs1012246572 -- 77,971,433(-) G/C upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for PGAM4 Gene

Variant ID Type Subtype PubMed ID
esv2758874 CNV loss 17122850

Variation tolerance for PGAM4 Gene

Residual Variation Intolerance Score: 85.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.14; 61.49% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PGAM4 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PGAM4 Gene

Disorders for PGAM4 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PGAM4 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
menkes disease
  • mk; mnk
- elite association - COSMIC cancer census association via MalaCards
Search PGAM4 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PGAM4

genes like me logo Genes that share disorders with PGAM4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PGAM4 Gene

Publications for PGAM4 Gene

  1. Evolution of the phosphoglycerate mutase processed gene in human and chimpanzee revealing the origin of a new primate gene. (PMID: 11961099) Betrán E … Long M (Molecular biology and evolution 2002) 2 3 4 22 58
  2. Emergence of young human genes after a burst of retroposition in primates. (PMID: 16201836) Marques AC … Kaessmann H (PLoS biology 2005) 3 4 58
  3. A phosphoglycerate mutase brain isoform (PGAM 1) pseudogene is localized within the human Menkes disease gene (ATP7 A). (PMID: 9370262) Dierick HA … Glover TW (Gene 1997) 2 3 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C … Emili A (Nature 2015) 3 58

Products for PGAM4 Gene

Sources for PGAM4 Gene

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