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Gene

TMPRSS6

transmembrane serine protease 6

Summary

Cytogenetic location
22q12.3
Coordinates
Chromosome 22: 37,065,436–37,109,713 (GRCh38)
Exons
18 exons across 44.3 kb
Protein
802 amino acids
Inheritance
Autosomal recessive
Also known as
FLJ30744, MT2
MANE Select transcript
ENST00000676104.1NM_001374504.1
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

  • Inherited Iron Metabolism Disorders

    • Iron-Refractory Iron Deficiency Anaemia (IRIDA)Autosomal recessive

      Caused by changes in both copies of TMPRSS6, high levels of the hormone hepcidin block iron absorption, leading to lifelong anaemia that responds poorly to iron tablets.

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

      Knowing the cause avoids repeated investigations for blood loss and points to intravenous iron rather than tablets.

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 TMPRSS6 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 22, with a bracket where TMPRSS6 sits. TMPRSS6 and 19 genes near it on chromosome 22, from 36,587,575 to 37,587,574.Chromosome 2222q12.3p13p12p11.2p11.1q11.1q11.21q11.22q11.23q12.1q12.2q12.3q13.1q13.2q13.31q13.32q13.3336.6 Mb36.8 Mb37 Mb37.2 Mb37.4 MbCACNG2: 36,560,857–36,703,779, reverse strandCACNG2IFT27: 36,741,346–36,776,309, reverse strandIFT27PVALB: 36,800,682–36,819,479, reverse strandPVALBNCF4: 36,860,795–36,878,067, forward strandNCF4CSF2RB: 36,913,590–36,940,454, forward strandCSF2RBCIMIP4: 36,991,119–37,007,884, reverse strandCIMIP4TST: 37,010,859–37,024,797, reverse strandTSTMPST: 37,019,635–37,029,828, forward strandMPSTKCTD17: 37,051,705–37,063,390, forward strandKCTD17TMPRSS6: 37,065,436–37,109,713, reverse strandTMPRSS6IL2RB: 37,118,666–37,176,676, reverse strandIL2RBC1QTNF6: 37,180,166–37,199,385, reverse strandC1QTNF6SSTR3: 37,204,237–37,212,482, reverse strandSSTR3RAC2: 37,225,270–37,259,594, reverse strandRAC2CYTH4: 37,282,027–37,315,346, forward strandCYTH4ELFN2: 37,367,960–37,427,596, reverse strandELFN2MFNG: 37,464,544–37,486,432, reverse strandMFNGCARD10: 37,490,362–37,519,591, reverse strandCARD10CDC42EP1: 37,555,112–37,571,052, forward strandCDC42EP1LGALS2: 37,570,246–37,582,616, reverse strandLGALS2Diagram of TMPRSS6: 18 exons on the reverse strand of chromosome 22Exon 17: 1 known disease-causing siteExon 16: 1 known disease-causing siteExon 14: 1 known disease-causing siteExon 13: 2 known disease-causing sitesExon 12: 1 known disease-causing siteExon 11: 1 known disease-causing siteExon 9: 2 known disease-causing sitesExon 3: 1 known disease-causing siteExon 18: 37,065,436–37,066,238, 803 basesExon 17: 37,066,826–37,066,962, 137 basesExon 16: 37,069,073–37,069,344, 272 basesExon 15: 37,070,484–37,070,652, 169 basesExon 14: 37,070,916–37,071,032, 117 basesExon 13: 37,073,532–37,073,645, 114 basesExon 12: 37,074,610–37,074,708, 99 basesExon 11: 37,075,135–37,075,280, 146 basesExon 10: 37,084,295–37,084,404, 110 basesExon 9: 37,084,727–37,084,839, 113 basesExon 8: 37,086,283–37,086,419, 137 basesExon 7: 37,089,578–37,089,782, 205 basesExon 6: 37,095,551–37,095,592, 42 basesExon 5: 37,095,906–37,096,090, 185 basesExon 4: 37,096,648–37,096,715, 68 basesExon 3: 37,098,416–37,098,549, 134 basesExon 2: 37,103,216–37,103,418, 203 basesExon 1: 37,109,503–37,109,713, 211 bases1816141210864215′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 44.3 kb; 2,409 of those bases code for the protein.

How a genome test reads TMPRSS6

12

positions in TMPRSS6 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 44.3 kb of TMPRSS6, 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.). TMPRSS6 gene: transmembrane serine protease 6. Retrieved 17 October 2026, from https://dantelabs.com/genes/tmprss6

Vancouver

Dante Labs. TMPRSS6 gene: transmembrane serine protease 6 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/tmprss6

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