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Gene

GMPPA

GDP-mannose pyrophosphorylase A

Summary

Cytogenetic location
2q35
Coordinates
Chromosome 2: 219,498,891–219,506,989 (GRCh38)
Exons
13 exons across 8.1 kb
Protein
420 amino acids
MANE Select transcript
ENST00000313597.10NM_013335.4
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

No Genome Test report reads GMPPA yet. The test sequences your whole genome, so your data includes it all the same.

How GMPPA is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 2, with a bracket where GMPPA sits. GMPPA and 31 genes near it on chromosome 2, from 219,002,940 to 220,002,939.Chromosome 22q35p25.3p25.2p25.1p24.3p24.2p24.1p23.3p23.2p23.1p22.3p22.2p22.1p21p16.3p16.2p16.1p15p14p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13q14.1q14.2q14.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q34q35q36.1q36.2q36.3q37.1q37.2q37.3219.2 Mb219.4 Mb219.6 Mb219.8 Mb220 MbCFAP65: 219,002,846–219,041,527, reverse strandCFAP65IHH: 219,054,424–219,061,064, reverse strandIHHNHEJ1: 219,069,355–219,160,869, reverse strand: 219,075,329–219,170,827, reverse strandSLC23A3: 219,161,465–219,170,095, reverse strandSLC23A3CNPPD1: 219,170,704–219,182,664, reverse strandCNPPD1RETREG2: 219,176,225–219,185,917, forward strandRETREG2ZFAND2B: 219,195,237–219,209,651, forward strandABCB6: 219,209,765–219,219,012, reverse strand: 219,209,772–219,222,738, reverse strandATG9A: 219,219,380–219,230,383, reverse strandANKZF1: 219,229,769–219,236,679, forward strandGLB1L: 219,236,598–219,245,478, reverse strandSTK16: 219,245,212–219,250,339, forward strandTUBA4A: 219,249,710–219,277,902, reverse strandTUBA4ATUBA4B: 219,253,243–219,272,197, forward strandTUBA4BDNAJB2: 219,279,308–219,286,900, forward strandDNAJB2PTPRN: 219,289,623–219,309,648, reverse strandPTPRNRESP18: 219,327,407–219,335,552, reverse strandRESP18DNPEP: 219,360,090–219,400,022, reverse strandDNPEPDES: 219,417,474–219,426,740, forward strandDESSPEG: 219,434,471–219,493,629, forward strandSPEG: 219,491,867–219,498,244, forward strandSPEGNB: 219,496,129–219,498,287, forward strandSPEGNBGMPPA: 219,498,891–219,506,989, forward strandGMPPAASIC4: 219,514,170–219,538,772, forward strandASIC4CHPF: 219,538,949–219,543,818, reverse strandCHPFTMEM198: 219,543,130–219,550,595, forward strandOBSL1: 219,550,727–219,572,076, reverse strandOBSL1INHA: 219,569,162–219,575,711, forward strandSTK11IP: 219,595,805–219,616,452, forward strandSTK11IPSLC4A3: 219,627,011–219,641,982, forward strandSLC4A3Diagram of GMPPA: 13 exons on the forward strand of chromosome 2Exon 3: 1 known disease-causing siteExon 4: 2 known disease-causing sitesExon 5: 1 known disease-causing siteExon 7: 1 known disease-causing siteExon 8: 1 known disease-causing siteExon 9: 1 known disease-causing siteExon 12: 1 known disease-causing siteExon 1: 219,498,891–219,498,938, 48 basesExon 2: 219,499,956–219,500,015, 60 basesExon 3: 219,500,121–219,500,218, 98 basesExon 4: 219,501,476–219,501,579, 104 basesExon 5: 219,501,851–219,502,037, 187 basesExon 6: 219,502,382–219,502,441, 60 basesExon 7: 219,504,083–219,504,213, 131 basesExon 8: 219,505,228–219,505,362, 135 basesExon 9: 219,505,458–219,505,555, 98 basesExon 10: 219,505,715–219,505,761, 47 basesExon 11: 219,505,980–219,506,072, 93 basesExon 12: 219,506,254–219,506,422, 169 basesExon 13: 219,506,698–219,506,989, 292 bases123456789101112135′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 1.5 kb of the gene's 8.1 kb; 1,263 of those bases code for the protein.

How a genome test reads GMPPA

10

positions in GMPPA 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 8.1 kb of GMPPA, introns included, not only the 1.5 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.
  • 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.). GMPPA gene: GDP-mannose pyrophosphorylase A. Retrieved 17 October 2026, from https://dantelabs.com/genes/gmppa

Vancouver

Dante Labs. GMPPA gene: GDP-mannose pyrophosphorylase A [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/gmppa

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