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Gene

PGM3

phosphoglucomutase 3

Summary

Cytogenetic location
6q14.1
Coordinates
Chromosome 6: 83,164,873–83,193,265 (GRCh38)
Exons
13 exons across 28.4 kb
Protein
542 amino acids
Also known as
AGM1, DKFZP434B187, PAGM
MANE Select transcript
ENST00000513973.6NM_015599.3
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

    • Congenital Disorders of Glycosylation

      • Congenital Disorders of Glycosylation (CDG)

        One of 98 genes linked to it

        A large group of inherited conditions in which sugar chains (glycans) are not correctly built or attached to proteins and lipids, often affecting the brain, liver, blood clotting, growth and many other body systems. Most are autosomal recessive, but some are X-linked or autosomal dominant.

        • ClinGen rates the link definitive
        • 4 GenCC submitters rate it definitive or strong

    • Other Inborn Errors of Immunity

      • Immunodeficiency Disease

        One of 170 genes linked to it

        Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.

        • ClinGen rates the link definitive
        • 4 GenCC submitters rate it definitive or strong
        What knowing changes

        HSCT for SCID and severe PIDs; immunoglobulin replacement (IVIG/SCIG) for antibody deficiencies; leniolisib (Joenja, FDA 2023) for APDS; gene therapy for ADA-SCID; abatacept for CTLA4/LRBA deficiency; prophylactic antibiotics; G-CSF for CGD

    How PGM3 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 6, with a bracket where PGM3 sits. PGM3 and 6 genes near it on chromosome 6, from 82,679,069 to 83,679,068.Chromosome 66q14.1p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12q13q14.1q14.2q14.3q15q16.1q16.2q16.3q21q22.1q22.2q22.31q22.32q22.33q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q26q2782.8 Mb83 Mb83.2 Mb83.4 Mb83.6 MbUBE3D: 82,892,390–83,065,860, reverse strandUBE3DDOP1A: 83,067,638–83,171,350, forward strandDOP1APGM3: 83,164,873–83,193,265, reverse strandPGM3RWDD2A: 83,193,337–83,198,950, forward strandRWDD2AME1: 83,210,389–83,431,370, reverse strandME1PRSS35: 83,512,478–83,525,704, forward strandPRSS35SNAP91: 83,552,690–83,709,691, reverse strandSNAP91Diagram of PGM3: 13 exons on the reverse strand of chromosome 6Exon 12: 5 known disease-causing sitesExon 11: 8 known disease-causing sitesExon 10: 4 known disease-causing sitesExon 9: 1 known disease-causing siteExon 8: 1 known disease-causing siteExon 7: 3 known disease-causing sitesExon 6: 6 known disease-causing sitesExon 5: 2 known disease-causing sitesExon 4: 5 known disease-causing sitesExon 3: 6 known disease-causing sitesExon 2: 5 known disease-causing sitesExon 13: 83,164,873–83,169,323, 4,451 basesExon 12: 83,170,305–83,170,478, 174 basesExon 11: 83,171,937–83,172,059, 123 basesExon 10: 83,174,374–83,174,487, 114 basesExon 9: 83,175,962–83,176,060, 99 basesExon 8: 83,178,673–83,178,756, 84 basesExon 7: 83,179,810–83,179,967, 158 basesExon 6: 83,181,736–83,181,931, 196 basesExon 5: 83,182,845–83,182,978, 134 basesExon 4: 83,187,008–83,187,075, 68 basesExon 3: 83,188,614–83,188,798, 185 basesExon 2: 83,190,809–83,191,014, 206 basesExon 1: 83,193,179–83,193,265, 87 bases131211109876543215′3′

    Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

    Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

    Nearby genes from Ensembl release 116, on GRCh38.

    Exons make up 6.1 kb of the gene's 28.4 kb; 1,629 of those bases code for the protein.

    How a genome test reads PGM3

    61

    positions in PGM3 where ClinVar classes a change as pathogenic or likely pathogenic

    None of them falls in a region short reads find hard.

    A whole genome covers all 28.4 kb of PGM3, introns included, not only the 6.1 kb of exons.

    Where this comes from

    • HGNC: the gene's symbol, name, other symbols and location.
    • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
    • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
    • The ACMG secondary findings list, SF v3.2.
    • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
    • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
    • Data release 2026.10.16-c6eea6bf.

    Cite this page

    APA

    Dante Labs. (n.d.). PGM3 gene: phosphoglucomutase 3. Retrieved 16 October 2026, from https://dantelabs.com/genes/pgm3

    Vancouver

    Dante Labs. PGM3 gene: phosphoglucomutase 3 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/pgm3

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