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PGM2 phosphoglucomutase 2 [ Homo sapiens (human) ]

Gene ID: 55276, updated on 3-Apr-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 phosphopentomutase activity. Predicted to be involved in carbohydrate metabolic process and deoxyribose phosphate catabolic process. Predicted to act upstream of or within glucose metabolic process. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022]
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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Location:
4p14
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (37826686..37862937)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (37795746..37832018)
105.20220307 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
  • 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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Related articles in PubMed

  1. Evidence for a second "structural" locus determining human phosphoglucomutase. Hopkinson DA, et al. Nature, 1965 Oct 23. PMID 5885461
  2. Further data on the assignment of the phosphoglucomutase (PGM2) gene locus to chromosome 4 in man. McAlpine PJ, et al. Birth Defects Orig Artic Ser, 1975. PMID 1203483
  3. Further data on the assignment of the phosphoglucomutase2 (PGM2) gene locus to chromosome 4 in man. McAlpine PJ, et al. Cytogenet Cell Genet, 1975. PMID 1192820
  4. The human PGM-2 and its chromosomal localization in man-mouse hybrids. Wijnen LM, et al. Hum Genet, 1977 Jul 26. PMID 885546
  5. Human PGM2 (E.C. 2.7.5.1) mapped to 4pter leads to 4q25. Sparkes RS, et al. Cytogenet Cell Genet, 1978. PMID 752512

See all (46) citations in PubMed

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_2023_10

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

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