Seroatlas · Human Serome Atlas

PGM2L1

Glucose 1,6-bisphosphate synthase

Also known as: BM32A, FLJ32029, PGM2L_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q6PCE3
Gene: PGM2L1
Ensembl: ENSG00000165434
Chromosome: 11
Canonical length: 622 aa
Protein class: Enzymes, Metabolic proteins, Predicted intracellular proteins
Subcellular location: Mitochondria

OverviewNCBI Gene

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, Jul 2025]

Canonical amino-acid sequenceUniProt

622 residues, UniProt reviewed canonical sequence.

>Q6PCE3|PGM2L1
     1  MAENTEGDLN SNLLHAPYHT GDPQLDTAIG QWLRWDKNPK TKEQIENLLR NGMNKELRDR
    61  LCCRMTFGTA GLRSAMGAGF CYINDLTVIQ STQGMYKYLE RCFSDFKQRG FVVGYDTRGQ
   121  VTSSCSSQRL AKLTAAVLLA KDVPVYLFSR YVPTPFVPYA VQKLKAVAGV MITASHNRKE
   181  DNGYKVYWET GAQITSPHDK EILKCIEECV EPWNGSWNDN LVDTSPLKRD PLQDICRRYM
   241  EDLKKICFYR ELNSKTTLKF VHTSFHGVGH DYVQLAFKVF GFKPPIPVPE QKDPDPDFST
   301  VKCPNPEEGE SVLELSLRLA EKENARVVLA TDPDADRLAA AELQENGCWK VFTGNELAAL
   361  FGWWMFDCWK KNKSRNADVK NVYMLATTVS SKILKAIALK EGFHFEETLP GFKWIGSRII
   421  DLLENGKEVL FAFEESIGFL CGTSVLDKDG VSAAVVVAEM ASYLETMNIT LKQQLVKVYE
   481  KYGYHISKTS YFLCYEPPTI KSIFERLRNF DSPKEYPKFC GTFAILHVRD VTTGYDSSQP
   541  NKKSVLPVSK NSQMITFTFQ NGCVATLRTS GTEPKIKYYA EMCASPDQSD TALLEEELKK
   601  LIDALIENFL QPSKNGLIWR SV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PGM2L1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.22
Highest tissue expression: 37 nTPM

Expression across tissuesHPA

Tissue

cerebral cortex: 37 nTPM
hippocampal formation: 12 nTPM
hypothalamus: 11 nTPM
amygdala: 10 nTPM
tongue: 10 nTPM
basal ganglia: 8 nTPM

Single-cell type

pituicytes/fscs: 239 nCPM
schwann cells: 236 nCPM
pancreatic acinar cells: 233 nCPM
gonadotrophs: 193 nCPM
respiratory ciliated cells: 157 nCPM
fallopian tube ciliated cells: 151 nCPM

Immune cell

T-reg: 3.9 nTPM
memory CD4 T-cell: 1.6 nTPM
naive CD4 T-cell: 1.5 nTPM
NK-cell: 1.4 nTPM
MAIT T-cell: 1.3 nTPM
basophil: 1.2 nTPM

Brain region

cerebral cortex: 70 nTPM
basal ganglia: 67 nTPM
hypothalamus: 59 nTPM
hippocampal formation: 55 nTPM
white matter: 39 nTPM
amygdala: 34 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PGM2L1.

Disease | AllUniProt

Conditions PGM2L1 is implicated in, by any mechanism.

Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities (NEDHFS) MIM:620191

Disease | GeneticClinVar

10 pathogenic / likely-pathogenic of 100 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities
Inborn genetic diseases

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.5
gnomAD pLI: 0.03
gnomAD missense Z: 2.24
DepMap mean gene effect: -0.12
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads PGM2L1 as an antibody target. Whether an autoantibody or antibody against PGM2L1 could matter depends on whether native PGM2L1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PGM2L1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label PGM2L1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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