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Gene

GNE

glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase

Summary

Cytogenetic location
9p13.3
Coordinates
Chromosome 9: 36,214,441–36,258,448 (GRCh38)
Exons
12 exons across 44 kb
Protein
722 amino acids
Inheritance
Autosomal recessive
Also known as
Uae1
Previous symbols
IBM2
MANE Select transcript
ENST00000642385.2NM_005476.7
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

  • Distal Myopathies

    • Gne MyopathyAutosomal recessive

      Nonaka distal myopathy (described in Japan) and the quadriceps-sparing autosomal recessive inclusion body myopathy type 2 (IBM2; independently described in Iranian Jews and later in other Jewish and non-Jewish populations) constitute the same pathological entity, distinguished by the sparing of quadriceps.

      • 5 GenCC submitters rate it definitive or strong
    • Distal myopathy

      A group of inherited muscle disorders in which weakness starts in the hands, forearms, lower legs or feet, caused by genes such as TTN, DYSF, FLNC, MYH7, ADSS1, SMPX and MATR3.

      • 5 GenCC submitters rate it definitive or strong

  • Inherited Thrombocytopenias

    • Inherited Thrombocytopenia

      A group of conditions causing a lifelong low platelet count, linked to genes such as MYH9, ANKRD26, ETV6, WAS, MPL, RBM8A, GATA1 and MECOM, and inherited in dominant, recessive or X-linked patterns.

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

      A genetic diagnosis avoids misdiagnosis as immune thrombocytopenia, with unnecessary steroids or spleen removal, and guides monitoring for related kidney, hearing or blood problems.

Broader groupings

  • Congenital Disorders of Glycosylation

    • 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.

      • 5 GenCC submitters rate it definitive or strong

  • Lysosomal Storage Disease

    • Lysosomal storage disease (other and unspecified types)

      One of 59 genes linked to it

      Covers lysosomal storage diseases without a dedicated report, such as Farber disease and other ASAH1-related disorders, prosaposin (PSAP) deficiencies, multiple sulfatase deficiency, mucopolysaccharidosis types IX and X, and Dorfman-Chanarin disease; inheritance varies by subtype, most often autosomal recessive.

      • 3 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 GNE is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 9, with a bracket where GNE sits. GNE and 21 genes near it on chromosome 9, from 35,736,445 to 36,736,444.Chromosome 99p13.3p24.3p24.2p24.1p23p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q13q21.11q21.12q21.13q21.2q21.31q21.32q21.33q22.1q22.2q22.31q22.32q22.33q31.1q31.2q31.3q32q33.1q33.2q33.3q34.11q34.12q34.13q34.2q34.335.8 Mb36 Mb36.2 Mb36.4 Mb36.6 MbCREB3: 35,732,296–35,738,887, forward strandCREB3GBA2: 35,734,577–35,749,986, reverse strandGBA2RGP1: 35,748,613–35,759,600, forward strandRGP1MSMP: 35,752,990–35,756,613, reverse strandMSMPNPR2: 35,791,003–35,809,732, forward strandSPAG8: 35,808,045–35,812,272, reverse strand: 35,812,960–35,828,732, reverse strandHINT2: 35,812,960–35,815,354, reverse strandHINT2TMEM8B: 35,814,451–35,865,518, forward strandTMEM8BFAM221B: 35,816,391–35,828,747, reverse strandFAM221BOR13J1: 35,869,463–35,870,401, reverse strandOR13J1HRCT1: 35,906,202–35,907,136, forward strandHRCT1SPAAR: 35,909,488–35,937,153, forward strandSPAAROR2S2: 35,957,108–35,958,154, reverse strandOR2S2OR13C7: 36,002,909–36,003,867, reverse strandOR13C7RECK: 36,036,896–36,124,457, forward strandRECKGLIPR2: 36,136,417–36,163,913, forward strandGLIPR2CCIN: 36,165,751–36,172,384, forward strandCCINCLTA: 36,190,856–36,304,781, forward strandCLTAGNE: 36,214,441–36,258,448, reverse strandGNERNF38: 36,336,396–36,487,548, reverse strandRNF38MELK: 36,572,074–36,682,131, forward strandMELKDiagram of GNE: 12 exons on the reverse strand of chromosome 9Exon 12: 17 known disease-causing sitesExon 11: 9 known disease-causing sitesExon 10: 21 known disease-causing sitesExon 9: 25 known disease-causing sitesExon 8: 6 known disease-causing sitesExon 7: 21 known disease-causing sitesExon 6: 12 known disease-causing sitesExon 5: 24 known disease-causing sitesExon 4: 16 known disease-causing sitesExon 3: 36 known disease-causing sitesExon 2: 14 known disease-causing sitesExon 12: 36,214,441–36,217,600, 3,160 basesExon 11: 36,218,183–36,218,299, 117 basesExon 10: 36,219,838–36,220,020, 183 basesExon 9: 36,222,777–36,222,998, 222 basesExon 8: 36,223,373–36,223,502, 130 basesExon 7: 36,227,248–36,227,458, 211 basesExon 6: 36,229,021–36,229,108, 88 basesExon 5: 36,233,920–36,234,132, 213 basesExon 4: 36,236,832–36,236,984, 153 basesExon 3: 36,246,031–36,246,482, 452 basesExon 2: 36,249,192–36,249,397, 206 basesExon 1: 36,258,321–36,258,448, 128 bases1210864215′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 5.3 kb of the gene's 44 kb; 2,169 of those bases code for the protein.

How a genome test reads GNE

232

positions in GNE 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 44 kb of GNE, introns included, not only the 5.3 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.). GNE gene: glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase. Retrieved 17 October 2026, from https://dantelabs.com/genes/gne

Vancouver

Dante Labs. GNE gene: glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/gne

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