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

Gene ID: 283209, updated on 3-Nov-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, Nov 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: 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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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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