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Gene

GPI

glucose-6-phosphate isomerase

Summary

Cytogenetic location
19q13.11
Coordinates
Chromosome 19: 34,365,196–34,402,413 (GRCh38)
Exons
18 exons across 37.2 kb
Protein
558 amino acids
Inheritance
Autosomal recessive
Also known as
AMF, NLK
MANE Select transcript
ENST00000356487.11NM_000175.5
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 report relevant to this gene

  • Pyruvate Kinase Deficiency and Other Red Cell Enzyme Disorders

    • Glucose Phosphate Isomerase DeficiencyAutosomal recessive

      A recessive form of haemolytic anaemia caused by changes in GPI, occasionally with nervous system or muscle involvement.

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

      Knowing the cause guides monitoring for anaemia, gallstones and iron overload.

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 GPI is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 19, with a bracket where GPI sits. GPI and 10 genes near it on chromosome 19, from 33,883,805 to 34,883,804.Chromosome 1919q13.11p13.3p13.2p13.13p13.12p13.11p12p11q11q12q13.11q13.12q13.13q13.2q13.31q13.32q13.33q13.41q13.42q13.4334 Mb34.2 Mb34.4 Mb34.6 Mb34.8 MbLSM14A: 34,172,413–34,229,513, forward strandLSM14AGARRE1: 34,254,543–34,355,609, forward strandGARRE1GPI: 34,365,196–34,402,413, forward strandGPI: 34,396,315–34,409,364, forward strandPDCD2L: 34,404,386–34,426,169, forward strandPDCD2LUBA2: 34,428,352–34,471,251, forward strandUBA2WTIP: 34,481,682–34,512,304, forward strandWTIPSCGB2B2: 34,590,644–34,677,159, reverse strandSCGB2B2ZNF302: 34,677,084–34,687,065, forward strandZNF302ZNF181: 34,734,155–34,750,437, forward strandZNF181ZNF599: 34,758,073–34,773,253, reverse strandZNF599Diagram of GPI: 18 exons on the forward strand of chromosome 19Exon 1: 1 known disease-causing siteExon 3: 1 known disease-causing siteExon 4: 2 known disease-causing sitesExon 9: 1 known disease-causing siteExon 10: 2 known disease-causing sitesExon 12: 5 known disease-causing sitesExon 13: 2 known disease-causing sitesExon 15: 1 known disease-causing siteExon 16: 2 known disease-causing sitesExon 17: 1 known disease-causing siteExon 18: 1 known disease-causing siteExon 1: 34,365,196–34,365,388, 193 basesExon 2: 34,366,345–34,366,435, 91 basesExon 3: 34,366,783–34,366,851, 69 basesExon 4: 34,368,583–34,368,702, 120 basesExon 5: 34,377,503–34,377,586, 84 basesExon 6: 34,377,735–34,377,881, 147 basesExon 7: 34,378,934–34,379,005, 72 basesExon 8: 34,379,518–34,379,562, 45 basesExon 9: 34,381,466–34,381,519, 54 basesExon 10: 34,393,248–34,393,308, 61 basesExon 11: 34,393,728–34,393,771, 44 basesExon 12: 34,393,914–34,394,066, 153 basesExon 13: 34,396,301–34,396,430, 130 basesExon 14: 34,396,581–34,396,657, 77 basesExon 15: 34,399,207–34,399,335, 129 basesExon 16: 34,399,556–34,399,631, 76 basesExon 17: 34,399,719–34,399,785, 67 basesExon 18: 34,399,901–34,402,413, 2,513 bases151015185′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 4.1 kb of the gene's 37.2 kb; 1,677 of those bases code for the protein.

How a genome test reads GPI

22

positions in GPI 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 37.2 kb of GPI, introns included, not only the 4.1 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.). GPI gene: glucose-6-phosphate isomerase. Retrieved 16 October 2026, from https://dantelabs.com/genes/gpi

Vancouver

Dante Labs. GPI gene: glucose-6-phosphate isomerase [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/gpi

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