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Gene

SLC19A2

solute carrier family 19 member 2

Summary

Cytogenetic location
1q24.2
Coordinates
Chromosome 1: 169,463,909–169,485,944 (GRCh38)
Exons
6 exons across 22 kb
Protein
497 amino acids
Inheritance
Autosomal recessive
Also known as
THTR1, ThT1
Previous symbols
TRMA
MANE Select transcript
ENST00000236137.10NM_006996.3
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

  • Thiamine Transporter and Metabolism Disorders

    • Disorders of Thiamine Transport and MetabolismAutosomal recessive

      Inherited defects in thiamine transporters or thiamine activation, caused by genes such as SLC19A2, SLC19A3, TPK1 and SLC25A19, which can cause anaemia, diabetes and hearing loss or episodes of severe brain dysfunction.

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

      Knowing allows early treatment with high-dose thiamine, and biotin where appropriate, which can prevent or reduce serious complications in several of these disorders.

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 SLC19A2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 1, with a bracket where SLC19A2 sits. SLC19A2 and 12 genes near it on chromosome 1, from 168,974,927 to 169,974,926.Chromosome 11q24.2p36.33p36.32p36.31p36.23p36.22p36.21p36.13p36.12p36.11p35.3p35.2p35.1p34.3p34.2p34.1p33p32.3p32.2p32.1p31.3p31.2p31.1p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q21.1q21.2q21.3q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q31.1q31.2q31.3q32.1q32.2q32.3q41q42.11q42.12q42.13q42.2q42.3q43q44169 Mb169.2 Mb169.4 Mb169.6 Mb169.8 MbATP1B1: 169,105,697–169,311,254, forward strandATP1B1NME7: 169,132,528–169,367,975, reverse strandNME7BLZF1: 169,367,967–169,397,302, forward strandBLZF1CCDC181: 169,394,870–169,460,669, reverse strandCCDC181SLC19A2: 169,463,909–169,485,944, reverse strandSLC19A2F5: 169,511,951–169,586,699, reverse strandF5SELP: 169,588,421–169,630,193, reverse strandSELPFIRRM: 169,662,007–169,873,258, forward strandFIRRMSELL: 169,690,665–169,712,202, reverse strandSELLSELE: 169,722,640–169,764,705, reverse strandSELEMETTL18: 169,791,741–169,794,991, reverse strandMETTL18SCYL3: 169,816,039–169,894,267, reverse strandSCYL3KIFAP3: 169,921,072–170,085,208, reverse strandKIFAP3Diagram of SLC19A2: 6 exons on the reverse strand of chromosome 1Exon 4: 1 known disease-causing siteExon 3: 2 known disease-causing sitesExon 2: 11 known disease-causing sitesExon 1: 1 known disease-causing siteExon 6: 169,463,909–169,465,977, 2,069 basesExon 5: 169,468,111–169,468,252, 142 basesExon 4: 169,468,644–169,468,836, 193 basesExon 3: 169,469,964–169,470,186, 223 basesExon 2: 169,477,155–169,477,757, 603 basesExon 1: 169,485,563–169,485,944, 382 bases6543215′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 3.6 kb of the gene's 22 kb; 1,494 of those bases code for the protein.

How a genome test reads SLC19A2

18

positions in SLC19A2 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 22 kb of SLC19A2, introns included, not only the 3.6 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.). SLC19A2 gene: solute carrier family 19 member 2. Retrieved 16 October 2026, from https://dantelabs.com/genes/slc19a2

Vancouver

Dante Labs. SLC19A2 gene: solute carrier family 19 member 2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/slc19a2

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