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Gene

TFR2

transferrin receptor 2

Summary

Cytogenetic location
7q22.1
Coordinates
Chromosome 7: 100,620,420–100,641,552 (GRCh38)
Exons
18 exons across 21.1 kb
Protein
801 amino acids
Also known as
HFE3, TFRC2
MANE Select transcript
ENST00000223051.8NM_003227.4
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 report relevant to this gene

  • Hemochromatosis

    • Hereditary Hemochromatosis

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

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

      Phlebotomy, iron chelation, iron restriction diet, family screening

How TFR2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 7, with a bracket where TFR2 sits. TFR2 and 41 genes near it on chromosome 7, from 100,130,986 to 101,130,985.Chromosome 77q22.1p22.3p22.2p22.1p21.3p21.2p21.1p15.3p15.2p15.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.21q11.22q11.23q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q31.1q31.2q31.31q31.32q31.33q32.1q32.2q32.3q33q34q35q36.1q36.2q36.3100.2 Mb100.4 Mb100.6 Mb100.8 Mb101 MbLAMTOR4: 100,148,888–100,155,945, forward strandTRAPPC14: 100,154,420–100,158,737, reverse strandGAL3ST4: 100,159,244–100,168,953, reverse strandGAL3ST4GPC2: 100,169,602–100,177,389, reverse strandGPC2STAG3: 100,177,563–100,214,387, forward strandSTAG3: 100,205,357–100,221,488, forward strandPVRIG: 100,218,241–100,221,490, forward strandPVRIGSPDYE3: 100,307,702–100,322,372, forward strandSPDYE3PILRB: 100,351,627–100,367,831, forward strandPILRBPILRA: 100,367,530–100,400,098, forward strand: 100,397,577–100,434,107, forward strandZCWPW1: 100,400,826–100,428,992, reverse strandMEPCE: 100,428,322–100,435,138, forward strandMEPCEPPP1R35: 100,435,261–100,436,546, reverse strandPPP1R35SPACDR: 100,456,620–100,464,277, reverse strandSPACDRTSC22D4: 100,466,508–100,479,257, reverse strandTSC22D4: 100,478,099–100,478,170, reverse strandNYAP1: 100,483,605–100,494,802, forward strandNYAP1AGFG2: 100,539,169–100,569,429, forward strandAGFG2SAP25: 100,572,228–100,573,916, reverse strandLRCH4: 100,574,011–100,586,236, reverse strandLRCH4FBXO24: 100,583,982–100,601,117, forward strandPCOLCE: 100,602,321–100,608,175, forward strandPCOLCEMOSPD3: 100,612,102–100,616,004, forward strandMOSPD3TFR2: 100,620,420–100,641,552, reverse strandTFR2ACTL6B: 100,643,097–100,656,458, reverse strandACTL6BGNB2: 100,673,477–100,679,174, forward strandGNB2GIGYF1: 100,679,505–100,694,481, reverse strandGIGYF1POP7: 100,695,902–100,708,628, forward strandPOP7EPO: 100,720,465–100,723,700, forward strandEPOZAN: 100,733,595–100,797,797, forward strandZANEPHB4: 100,802,563–100,827,584, reverse strandEPHB4SLC12A9: 100,826,820–100,867,017, forward strandSLC12A9TRIP6: 100,867,126–100,873,524, forward strandTRIP6SRRT: 100,875,065–100,888,664, forward strandSRRTUFSP1: 100,888,721–100,889,715, reverse strandUFSP1ACHE: 100,889,993–100,897,022, reverse strandMUC3A: 100,949,414–100,968,348, forward strandMUC3AMUC12: 100,969,431–101,018,940, forward strandMUC12MUC17: 101,020,072–101,058,859, forward strandMUC17TRIM56: 101,085,234–101,097,967, forward strandTRIM56SERPINE1: 101,122,158–101,139,263, forward strandSERPINE1Diagram of TFR2: 18 exons on the reverse strand of chromosome 7Exon 18: 14 known disease-causing sitesExon 17: 18 known disease-causing sitesExon 16: 10 known disease-causing sitesExon 15: 1 known disease-causing siteExon 14: 3 known disease-causing sitesExon 11: 7 known disease-causing sitesExon 10: 4 known disease-causing sitesExon 9: 9 known disease-causing sitesExon 8: 5 known disease-causing sitesExon 7: 4 known disease-causing sitesExon 6: 8 known disease-causing sitesExon 5: 4 known disease-causing sitesExon 4: 6 known disease-causing sitesExon 3: 11 known disease-causing sitesExon 2: 17 known disease-causing sitesExon 1: 3 known disease-causing sitesExon 18: 100,620,420–100,621,126, 707 basesExon 17: 100,626,763–100,626,903, 141 basesExon 16: 100,627,264–100,627,491, 228 basesExon 15: 100,627,577–100,627,661, 85 basesExon 14: 100,627,744–100,627,820, 77 basesExon 13: 100,627,907–100,627,974, 68 basesExon 12: 100,628,073–100,628,136, 64 basesExon 11: 100,628,224–100,628,306, 83 basesExon 10: 100,629,253–100,629,372, 120 basesExon 9: 100,630,889–100,631,052, 164 basesExon 8: 100,631,806–100,631,945, 140 basesExon 7: 100,632,082–100,632,198, 117 basesExon 6: 100,633,001–100,633,123, 123 basesExon 5: 100,633,229–100,633,340, 112 basesExon 4: 100,633,416–100,633,556, 141 basesExon 3: 100,640,686–100,640,872, 187 basesExon 2: 100,640,976–100,641,228, 253 basesExon 1: 100,641,477–100,641,552, 76 bases181510515′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 2.9 kb of the gene's 21.1 kb; 2,406 of those bases code for the protein.

How a genome test reads TFR2

162

positions in TFR2 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 21.1 kb of TFR2, introns included, not only the 2.9 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.). TFR2 gene: transferrin receptor 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/tfr2

Vancouver

Dante Labs. TFR2 gene: transferrin receptor 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/tfr2

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