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Gene

PGAM2

phosphoglycerate mutase 2

Summary

Cytogenetic location
7p13
Coordinates
Chromosome 7: 44,062,727–44,065,567 (GRCh38)
Exons
3 exons across 2.8 kb
Protein
253 amino acids
Inheritance
Autosomal recessive
Also known as
PGAM-M
MANE Select transcript
ENST00000297283.4NM_000290.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Curated report relevant to this gene

  • Glycogen Storage Disease

    • Phosphoglycerate Mutase DeficiencyAutosomal recessive

      Caused by variants in PGAM2, which cause exercise intolerance, muscle cramps and episodes of muscle breakdown.

      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing helps avoid triggers of muscle breakdown and supports fast treatment to protect the kidneys.

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How PGAM2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 7, with a bracket where PGAM2 sits. PGAM2 and 19 genes near it on chromosome 7, from 43,564,147 to 44,564,146.Chromosome 77p13p22.3p22.2p22.1p21.3p21.2p21.1p15.3p15.2p15.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.21q11.22q11.23q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q31.1q31.2q31.31q31.32q31.33q32.1q32.2q32.3q33q34q35q36.1q36.2q36.343.6 Mb43.8 Mb44 Mb44.2 Mb44.4 MbHECW1: 43,112,629–43,566,001, forward strandHECW1COA1: 43,552,389–43,729,857, reverse strandCOA1STK17A: 43,582,758–43,650,713, forward strandSTK17ABLVRA: 43,758,009–43,808,868, forward strandBLVRAMRPS24: 43,866,556–43,869,893, reverse strandMRPS24URGCP-MRPS24: 43,866,558–43,906,589, reverse strandURGCP-MRPS24URGCP: 43,873,645–43,926,411, reverse strandURGCPUBE2D4: 43,925,799–43,956,136, forward strandUBE2D4SPDYE1: 43,997,897–44,010,124, forward strandSPDYE1DBNL: 44,044,628–44,069,456, forward strandDBNLPGAM2: 44,062,727–44,065,567, reverse strandPGAM2POLM: 44,070,915–44,082,985, reverse strandPOLMAEBP1: 44,104,286–44,114,565, forward strandAEBP1POLD2: 44,114,631–44,124,407, reverse strandPOLD2MYL7: 44,138,857–44,143,179, reverse strandMYL7GCK: 44,143,213–44,198,170, reverse strandGCKYKT6: 44,200,959–44,214,294, forward strandYKT6CAMK2B: 44,209,993–44,334,577, reverse strandCAMK2BNUDCD3: 44,379,119–44,490,919, reverse strandNUDCD3NPC1L1: 44,512,442–44,541,330, reverse strandNPC1L1Diagram of PGAM2: 3 exons on the reverse strand of chromosome 7Exon 2: 2 known disease-causing sitesExon 1: 9 known disease-causing sitesExon 3: 44,062,727–44,062,930, 204 basesExon 2: 44,064,832–44,065,012, 181 basesExon 1: 44,065,116–44,065,567, 452 bases3215′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 0.8 kb of the gene's 2.8 kb; 762 of those bases code for the protein.

How a genome test reads PGAM2

11

positions in PGAM2 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 2.8 kb of PGAM2, introns included, not only the 0.8 kb of exons.

Traits linked to PGAM2

The Human Phenotype Ontology lists these as features of the rare conditions PGAM2 can cause. Each trait's page lists the other genes linked to it.

External links

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.). PGAM2 gene: phosphoglycerate mutase 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/pgam2

Vancouver

Dante Labs. PGAM2 gene: phosphoglycerate mutase 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/pgam2

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