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    PGM2 phosphoglucomutase 2 [ Homo sapiens (human) ]

    Gene ID: 55276, updated on 3-Nov-2024

    Summary

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    Official Symbol
    PGM2provided by HGNC
    Official Full Name
    phosphoglucomutase 2provided by HGNC
    Primary source
    HGNC:HGNC:8906
    See related
    Ensembl:ENSG00000169299 MIM:172000; AllianceGenome:HGNC:8906
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MSTP006
    Summary
    Enables phosphoglucomutase activity and phosphopentomutase activity. Predicted to be involved in purine ribonucleoside salvage. Predicted to act upstream of or within glucose metabolic process. Located in cytosol. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in esophagus (RPKM 28.0), urinary bladder (RPKM 13.5) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PGM2 in Genome Data Viewer
    Location:
    4p14
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (37826686..37862937)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (37795746..37832018)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (37828308..37864558)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374406 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:37788965-37789464 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_79175 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:37827979-37828480 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:37828481-37828980 Neighboring gene ribosomal protein L21 pseudogene 45 Neighboring gene Sharpr-MPRA regulatory region 10943 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:37882909-37883409 Neighboring gene heterogeneous nuclear ribonucleoprotein R pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15351 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15352 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21417 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15353 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21418 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:37901172-37901710 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:37902885-37903448 Neighboring gene TBC1 domain family member 1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:37955381-37956580 Neighboring gene pituitary tumor-transforming 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. FGF20 and PGM2 variants are associated with childhood asthma in family-based whole-genome sequencing studies.
      Title: FGF20 and PGM2 variants are associated with childhood asthma in family-based whole-genome sequencing studies.
    2. In the present work, phosphopentomutase was purified from human erythrocytes and found it to copurify with a 68-kDa polypeptide that was identified by mass spectrometry as PGM2, sharing about 20% identity with mammalian phosphoglucomutase 1.
      Title: Molecular identification of mammalian phosphopentomutase and glucose-1,6-bisphosphate synthase, two members of the alpha-D-phosphohexomutase family.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ10983

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables magnesium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phosphoglucomutase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables phosphopentomutase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phosphopentomutase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in glucose metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in glycogen biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in glycogen catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in purine ribonucleoside salvage IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    located_in ficolin-1-rich granule lumen TAS
    Traceable Author Statement
    more info
    		  
    located_in secretory granule lumen TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    phosphopentomutase
    Names
    PGM 2
    glucose phosphomutase 2
    phosphodeoxyribomutase
    NP_060760.2
    XP_047271851.1
    XP_054206363.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_018290.4 → NP_060760.2  phosphopentomutase

      See identical proteins and their annotated locations for NP_060760.2

      Status: VALIDATED

      Source sequence(s)
      AF109360, AI955714, BC010087, BP234074
      Consensus CDS
      CCDS3443.1
      UniProtKB/Swiss-Prot
      B4E0G8, Q53FP5, Q5QTR0, Q96G03, Q9H0P9, Q9NV22
      Related
      ENSP00000371393.4, ENST00000381967.9
      Conserved Domains (2) summary
      cd05799
      Location:54 → 592
      PGM2; This CD includes PGM2 (phosphoglucomutase 2) and PGM2L1 (phosphoglucomutase 2-like 1). The mammalian PGM2 is thought to be a phosphopentomutase that catalyzes the conversion of the nucleoside breakdown products, ribose-1-phosphate and ...
      PTZ00150
      Location:15 → 612
      PTZ00150; phosphoglucomutase-2-like protein; Provisional

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      37826686..37862937
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047415895.1 → XP_047271851.1  phosphopentomutase isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      37795746..37832018
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054350388.1 → XP_054206363.1  phosphopentomutase isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96G03.4 GenPept UniProtKB/Swiss-Prot:Q96G03

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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