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Gene

MPI

mannose phosphate isomerase

Summary

Cytogenetic location
15q24.1
Coordinates
Chromosome 15: 74,890,042–74,902,219 (GRCh38)
Exons
8 exons across 12.2 kb
Protein
423 amino acids
Inheritance
Autosomal recessive
MANE Select transcript
ENST00000352410.9NM_002435.3
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 report relevant to this gene

  • Congenital Disorders of Glycosylation

    • MPI-CDG (Phosphomannose Isomerase Deficiency)Autosomal recessive

      A congenital disorder of glycosylation caused by variants in MPI that mainly affects the gut and liver, causing protein-losing enteropathy, low blood sugar and clotting problems, usually without intellectual disability.

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

      Oral mannose supplements correct most symptoms, so early diagnosis is important.

    • 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

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 MPI is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 15, with a bracket where MPI sits. MPI and 24 genes near it on chromosome 15, from 74,396,131 to 75,396,130.Chromosome 1515q24.1p13p12p11.2p11.1q11.1q11.2q12q13.1q13.2q13.3q14q15.1q15.2q15.3q21.1q21.2q21.3q22.1q22.2q22.31q22.32q22.33q23q24.1q24.2q24.3q25.1q25.2q25.3q26.1q26.2q26.374.4 Mb74.6 Mb74.8 Mb75 Mb75.2 MbSEMA7A: 74,409,289–74,433,965, reverse strandSEMA7AUBL7: 74,445,187–74,461,189, reverse strandUBL7ARID3B: 74,541,188–74,598,131, forward strandARID3BCLK3: 74,598,500–74,645,468, forward strandCLK3EDC3: 74,630,557–74,696,292, reverse strandEDC3CYP1A1: 74,719,542–74,738,469, reverse strandCYP1A1CYP1A2: 74,748,795–74,756,607, forward strandCYP1A2CSK: 74,782,023–74,804,177, forward strandCSKLMAN1L: 74,812,716–74,825,758, forward strandLMAN1LCPLX3: 74,826,594–74,831,802, forward strandCPLX3ULK3: 74,836,116–74,843,346, reverse strandULK3SCAMP2: 74,843,728–74,873,374, reverse strandSCAMP2MPI: 74,890,042–74,902,219, forward strandMPIFAM219B: 74,892,175–74,907,331, reverse strandFAM219BCOX5A: 74,919,594–74,939,351, reverse strandCOX5ARPP25: 74,954,418–74,956,772, reverse strandRPP25SCAMP5: 74,957,219–75,021,497, forward strandSCAMP5PPCDC: 75,023,550–75,117,462, forward strandPPCDCPRMT2IP: 75,195,623–75,212,169, forward strandPRMT2IPGOLGA6C: 75,258,334–75,273,455, forward strandGOLGA6CGOLGA6D: 75,282,835–75,295,530, forward strandGOLGA6DCOMMD4: 75,336,000–75,343,224, forward strandCOMMD4NEIL1: 75,346,878–75,357,115, forward strandNEIL1MAN2C1: 75,355,207–75,368,656, reverse strandMAN2C1SIN3A: 75,369,379–75,455,842, reverse strandSIN3ADiagram of MPI: 8 exons on the forward strand of chromosome 15Exon 1: 2 known disease-causing sitesExon 2: 10 known disease-causing sitesExon 3: 18 known disease-causing sitesExon 4: 8 known disease-causing sitesExon 5: 14 known disease-causing sitesExon 6: 20 known disease-causing sitesExon 7: 20 known disease-causing sitesExon 8: 15 known disease-causing sitesExon 1: 74,890,042–74,890,089, 48 basesExon 2: 74,890,527–74,890,654, 128 basesExon 3: 74,891,379–74,891,579, 201 basesExon 4: 74,892,661–74,892,802, 142 basesExon 5: 74,893,138–74,893,320, 183 basesExon 6: 74,896,152–74,896,325, 174 basesExon 7: 74,897,011–74,897,219, 209 basesExon 8: 74,897,512–74,902,219, 4,708 bases123456785′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 5.8 kb of the gene's 12.2 kb; 1,272 of those bases code for the protein.

How a genome test reads MPI

125

positions in MPI 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 12.2 kb of MPI, introns included, not only the 5.8 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.). MPI gene: mannose phosphate isomerase. Retrieved 17 October 2026, from https://dantelabs.com/genes/mpi

Vancouver

Dante Labs. MPI gene: mannose phosphate isomerase [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/mpi

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