Skip to content
Use your HSA or FSA funds

Gene

PMM2

phosphomannomutase 2

Summary

Cytogenetic location
16p13.2
Coordinates
Chromosome 16: 8,797,839–8,849,325 (GRCh38)
Exons
8 exons across 51.5 kb
Protein
246 amino acids
Inheritance
Autosomal recessive
Also known as
CDGS, CDG1a, PMI, PMI1
Previous symbols
CDG1
MANE Select transcript
ENST00000268261.9NM_000303.3
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

    • PMM2-CDG (Phosphomannomutase 2 Deficiency)Autosomal recessive

      The most common congenital disorder of glycosylation, caused by variants in PMM2, with developmental delay, poor balance from cerebellar underdevelopment, abnormal fat distribution and liver and clotting problems.

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

      Diagnosis guides monitoring for clotting, liver, hormone and eye problems; acetazolamide is being studied for the cerebellar symptoms.

    • 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
      • 6 GenCC submitters rate it definitive or strong

  • Hyperinsulinism

    • Hyperinsulinemic hypoglycemia with polycystic kidney diseaseAutosomal recessive

      Hyperinsulinaemic hypoglycaemia with enlarged polycystic kidneys, caused by a PMM2 promoter variant.

      • ClinGen rates the link moderate
      • 1 GenCC submitter rates it definitive or strong

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 PMM2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 16, with a bracket where PMM2 sits. PMM2 and 8 genes near it on chromosome 16, from 8,323,582 to 9,323,581.Chromosome 1616p13.2p13.3p13.2p13.13p13.12p13.11p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q13q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.38.4 Mb8.6 Mb8.8 Mb9 Mb9.2 MbTMEM114: 8,537,605–8,590,511, reverse strandTMEM114METTL22: 8,621,655–8,665,132, forward strandMETTL22ABAT: 8,674,596–8,784,575, forward strandABATTMEM186: 8,778,233–8,797,763, reverse strandTMEM186PMM2: 8,797,839–8,849,325, forward strandPMM2CARHSP1: 8,852,942–8,870,941, reverse strandCARHSP1LITAFD: 8,875,704–8,885,353, forward strandLITAFDUSP7: 8,892,094–8,975,328, reverse strandUSP7HAPSTR1: 9,091,594–9,121,635, forward strandHAPSTR1Diagram of PMM2: 8 exons on the forward strand of chromosome 16Exon 1: 16 known disease-causing sitesExon 2: 23 known disease-causing sitesExon 3: 18 known disease-causing sitesExon 4: 15 known disease-causing sitesExon 5: 27 known disease-causing sitesExon 6: 15 known disease-causing sitesExon 7: 24 known disease-causing sitesExon 8: 22 known disease-causing sitesExon 1: 8,797,839–8,797,948, 110 basesExon 2: 8,801,799–8,801,910, 112 basesExon 3: 8,804,767–8,804,843, 77 basesExon 4: 8,806,316–8,806,407, 92 basesExon 5: 8,811,079–8,811,178, 100 basesExon 6: 8,811,638–8,811,713, 76 basesExon 7: 8,812,991–8,813,106, 116 basesExon 8: 8,847,724–8,849,325, 1,602 bases124685′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 2.3 kb of the gene's 51.5 kb; 741 of those bases code for the protein.

How a genome test reads PMM2

188

positions in PMM2 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 51.5 kb of PMM2, introns included, not only the 2.3 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.). PMM2 gene: phosphomannomutase 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/pmm2

Vancouver

Dante Labs. PMM2 gene: phosphomannomutase 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/pmm2

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test