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    PGM2L1 phosphoglucomutase 2 like 1 [ Homo sapiens (human) ]

    Gene ID: 283209, updated on 10-Dec-2024

    Summary

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    Official Symbol
    PGM2L1provided by HGNC
    Official Full Name
    phosphoglucomutase 2 like 1provided by HGNC
    Primary source
    HGNC:HGNC:20898
    See related
    Ensembl:ENSG00000165434 MIM:611610; AllianceGenome:HGNC:20898
    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
    BM32A; PMMLP; NEDHFS
    Summary
    Enables glucose-1,6-bisphosphate synthase activity. Predicted to be involved in glucose metabolic process. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in brain (RPKM 28.2), endometrium (RPKM 3.0) and 7 other tissues See more
    Orthologs
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    Genomic context

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    See PGM2L1 in Genome Data Viewer
    Location:
    11q13.4
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (74330316..74398433, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (74259645..74327847, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (74041361..74109478, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene protein phosphatase methylesterase 1 Neighboring gene small nucleolar RNA SNORA7 Neighboring gene prolyl 4-hydroxylase subunit alpha 3 Neighboring gene P4HA3 antisense RNA 1 Neighboring gene uncharacterized LOC112268078 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 40 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:74107127-74107628 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:74107629-74108128 Neighboring gene H3K27ac hESC enhancers GRCh37_chr11:74109220-74109841 and GRCh37_chr11:74109842-74110462 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:74123584-74124783 Neighboring gene microRNA 548al Neighboring gene potassium voltage-gated channel subfamily E regulatory subunit 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder. Morava E, et al. Am J Hum Genet, 2021 Jun 3. PMID 33979636, Free PMC Article
    2. Molecular identification of mammalian phosphopentomutase and glucose-1,6-bisphosphate synthase, two members of the alpha-D-phosphohexomutase family. Maliekal P, et al. J Biol Chem, 2007 Nov 2. PMID 17804405
    3. Antigenic analysis of the major human phosphoglucomutase isozymes: PGM1, PGM2, PGM3 and PGM4. Drago GA, et al. Ann Hum Genet, 1991 Oct. PMID 1840235
    4. Expressed sequence tag analysis of human RPE/choroid for the NEIBank Project: over 6000 non-redundant transcripts, novel genes and splice variants. Wistow G, et al. Mol Vis, 2002 Jun 15. PMID 12107410
    5. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. Flachsbart F, et al. Mutat Res, 2010 Dec 10. PMID 20800603

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder.
      Title: Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
    3. Study shows that PGM2L1 which shows 60% homology with PGM2 actually corresponds to glucose-1,6-bisphosphate synthase.
      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

    Associated conditions

    Description Tests
    Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities
    MedGen: C5774285 OMIM: 620191 GeneReviews: Not available
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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

    • FLJ32029, FLJ33458, MGC71501

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables glucose-1,6-bisphosphate synthase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables glucose-1,6-bisphosphate synthase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables glucose-1,6-bisphosphate synthase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables intramolecular phosphotransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in glucose metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    glucose 1,6-bisphosphate synthase
    NP_775853.2
    XP_011543255.1
    XP_054224455.1

    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_173582.6 → NP_775853.2  glucose 1,6-bisphosphate synthase

      See identical proteins and their annotated locations for NP_775853.2

      Status: VALIDATED

      Source sequence(s)
      AP001085
      Consensus CDS
      CCDS8231.1
      UniProtKB/Swiss-Prot
      Q6PCE3, Q96MQ7, Q9UIK3
      Related
      ENSP00000298198.4, ENST00000298198.5
      Conserved Domains (2) summary
      cd05799
      Location:64 → 607
      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:24 → 621
      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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      74330316..74398433 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011544953.4 → XP_011543255.1  glucose 1,6-bisphosphate synthase isoform X1

      Conserved Domains (2) summary
      cd05799
      Location:85 → 628
      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:24 → 642
      PTZ00150; phosphoglucomutase-2-like protein; Provisional

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      74259645..74327847 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054368480.1 → XP_054224455.1  glucose 1,6-bisphosphate synthase isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6PCE3.3 GenPept UniProtKB/Swiss-Prot:Q6PCE3

    Gene LinkOut

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

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