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Gene

SLC2A1

solute carrier family 2 member 1

Summary

Cytogenetic location
1p34.2
Coordinates
Chromosome 1: 42,925,353–42,958,868 (GRCh38)
Exons
10 exons across 33.5 kb
Protein
492 amino acids
Inheritance
Autosomal dominant
Also known as
DYT18, DYT9, GLUT-1
Previous symbols
GLUT1, GLUT, HTLVR, CSE
MANE Select transcript
ENST00000426263.10NM_006516.4
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

  • Dystonia, Myotonia, Paroxysmal Dyskinesia

    • Paroxysmal DyskinesiaAutosomal dominant

      Paroxysmal dyskinesia (PD) is a rare heterogenous group of movement disorders manifesting as abnormal involuntary movements that recur episodically and last only a brief time. PD includes paroxysmal kinesigenic dyskinesia (PKD), paroxysmal non-kinesigenic dyskinesia (PNKD), paroxysmal exertion-induced dyskinesia (PED) and a variant form of PKD, infantile convulsion and choreoathetosis (ICCA syndrome).

      • 1 GenCC submitter rates it definitive or strong
    • Inherited Dystonia

      Umbrella term covering inherited dystonias, including DYT-TOR1A early-onset generalized dystonia, DYT-THAP1, myoclonus-dystonia (SGCE) and KMT2B-related dystonia.

      • 2 GenCC submitters rate it definitive or strong

Broader groupings

  • Epilepsy (Full Panel)

    • Epilepsy

      One of 171 genes linked to it

      A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.

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

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How SLC2A1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 1, with a bracket where SLC2A1 sits. SLC2A1 and 24 genes near it on chromosome 1, from 42,442,111 to 43,442,110.Chromosome 11p34.2p36.33p36.32p36.31p36.23p36.22p36.21p36.13p36.12p36.11p35.3p35.2p35.1p34.3p34.2p34.1p33p32.3p32.2p32.1p31.3p31.2p31.1p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q21.1q21.2q21.3q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q31.1q31.2q31.3q32.1q32.2q32.3q41q42.11q42.12q42.13q42.2q42.3q43q4442.6 Mb42.8 Mb43 Mb43.2 Mb43.4 MbZMYND12: 42,430,315–42,456,253, reverse strandZMYND12PPCS: 42,456,117–42,473,417, forward strandPPCSCCDC30: 42,463,221–42,657,190, forward strandCCDC30PPIH: 42,658,185–42,676,758, forward strandPPIHYBX1: 42,682,144–42,703,805, forward strandYBX1CLDN19: 42,733,093–42,740,286, reverse strandP3H1: 42,746,335–42,767,084, reverse strandP3H1C1orf50: 42,767,245–42,781,980, forward strand: 42,767,292–42,794,493, forward strandTMEM269: 42,784,991–42,816,619, forward strandTMEM269SVBP: 42,788,324–42,824,810, reverse strandSVBPERMAP: 42,817,078–42,845,920, forward strandERMAPZNF691: 42,846,573–42,854,023, forward strandZNF691SLC2A1: 42,925,353–42,958,868, reverse strandSLC2A1CFAP144: 43,145,153–43,156,396, forward strandCFAP144EBNA1BP2: 43,162,085–43,270,936, reverse strandEBNA1BP2CFAP57: 43,172,326–43,254,358, forward strandCFAP57TMEM125: 43,269,976–43,274,007, forward strandTMEM125C1orf210: 43,281,271–43,285,908, reverse strandC1orf210TIE1: 43,300,958–43,325,215, forward strandTIE1MPL: 43,337,808–43,354,466, forward strandMPLCDC20: 43,358,907–43,363,212, forward strandCDC20ELOVL1: 43,363,141–43,368,075, reverse strandELOVL1MED8: 43,383,906–43,389,823, reverse strandMED8SZT2: 43,389,882–43,454,247, forward strandSZT2Diagram of SLC2A1: 10 exons on the reverse strand of chromosome 1Exon 10: 5 known disease-causing sitesExon 9: 17 known disease-causing sitesExon 8: 7 known disease-causing sitesExon 7: 11 known disease-causing sitesExon 6: 21 known disease-causing sitesExon 5: 13 known disease-causing sitesExon 4: 24 known disease-causing sitesExon 3: 8 known disease-causing sitesExon 2: 12 known disease-causing sitesExon 1: 3 known disease-causing sitesExon 10: 42,925,353–42,927,241, 1,889 basesExon 9: 42,927,605–42,927,808, 204 basesExon 8: 42,928,932–42,929,033, 102 basesExon 7: 42,929,210–42,929,314, 105 basesExon 6: 42,929,593–42,929,780, 188 basesExon 5: 42,929,873–42,930,035, 163 basesExon 4: 42,930,626–42,930,866, 241 basesExon 3: 42,931,046–42,931,206, 161 basesExon 2: 42,943,226–42,943,321, 96 basesExon 1: 42,958,634–42,958,868, 235 bases10864215′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 3.4 kb of the gene's 33.5 kb; 1,479 of those bases code for the protein.

How a genome test reads SLC2A1

131

positions in SLC2A1 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 33.5 kb of SLC2A1, introns included, not only the 3.4 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.). SLC2A1 gene: solute carrier family 2 member 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/slc2a1

Vancouver

Dante Labs. SLC2A1 gene: solute carrier family 2 member 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/slc2a1

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