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Gene

SLC40A1

solute carrier family 40 member 1

Summary

Cytogenetic location
2q32.2
Coordinates
Chromosome 2: 189,560,590–189,580,786 (GRCh38)
Exons
8 exons across 20.2 kb
Protein
571 amino acids
Also known as
MTP1, IREG1, FPN1, HFE4, FPN
Previous symbols
SLC11A3
MANE Select transcript
ENST00000261024.7NM_014585.6
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

  • Hemochromatosis

    • Hereditary Hemochromatosis

      An inherited metabolic disorder characterized by iron accumulation in the tissues.

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

      Phlebotomy, iron chelation, iron restriction diet, family screening

How SLC40A1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 2, with a bracket where SLC40A1 sits. SLC40A1 and 11 genes near it on chromosome 2, from 189,070,688 to 190,070,687.Chromosome 22q32.2p25.3p25.2p25.1p24.3p24.2p24.1p23.3p23.2p23.1p22.3p22.2p22.1p21p16.3p16.2p16.1p15p14p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13q14.1q14.2q14.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q34q35q36.1q36.2q36.3q37.1q37.2q37.3189.2 Mb189.4 Mb189.6 Mb189.8 Mb190 MbCOL5A2: 189,030,743–189,225,312, reverse strandCOL5A2WDR75: 189,441,429–189,485,916, forward strandWDR75SLC40A1: 189,560,590–189,580,786, reverse strandSLC40A1ASDURF: 189,661,385–189,666,437, forward strandASDURFASNSD1: 189,661,385–189,671,381, forward strandASNSD1: 189,661,519–189,667,881, forward strandANKAR: 189,674,290–189,761,193, forward strandANKAROSGEPL1: 189,746,415–189,763,230, reverse strandOSGEPL1ORMDL1: 189,765,545–189,784,395, reverse strandORMDL1PMS1: 189,784,062–189,878,385, forward strandPMS1AKAP19: 189,879,543–190,204,492, forward strandAKAP19MSTN: 190,055,700–190,062,740, reverse strandMSTNDiagram of SLC40A1: 8 exons on the reverse strand of chromosome 2Exon 8: 2 known disease-causing sitesExon 7: 4 known disease-causing sitesExon 6: 6 known disease-causing sitesExon 5: 4 known disease-causing sitesExon 3: 4 known disease-causing sitesExon 8: 189,560,590–189,562,191, 1,602 basesExon 7: 189,563,584–189,564,225, 642 basesExon 6: 189,565,354–189,565,599, 246 basesExon 5: 189,571,715–189,571,841, 127 basesExon 4: 189,572,846–189,572,961, 116 basesExon 3: 189,575,161–189,575,320, 160 basesExon 2: 189,579,813–189,579,880, 68 basesExon 1: 189,580,418–189,580,786, 369 bases876543215′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 3.3 kb of the gene's 20.2 kb; 1,716 of those bases code for the protein.

How a genome test reads SLC40A1

20

positions in SLC40A1 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 20.2 kb of SLC40A1, introns included, not only the 3.3 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.). SLC40A1 gene: solute carrier family 40 member 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/slc40a1

Vancouver

Dante Labs. SLC40A1 gene: solute carrier family 40 member 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/slc40a1

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