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Gene

TFRC

transferrin receptor

Summary

Cytogenetic location
3q29
Coordinates
Chromosome 3: 196,049,284–196,082,090 (GRCh38)
Exons
19 exons across 32.8 kb
Protein
760 amino acids
Also known as
CD71, TFR1, p90
MANE Select transcript
ENST00000360110.9NM_001128148.3
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

    • Other Inborn Errors of Immunity

      • Immunodeficiency Disease

        One of 170 genes linked to it

        Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.

        • ClinGen rates the link definitive
        • 1 GenCC submitter rates it definitive or strong
        What knowing changes

        HSCT for SCID and severe PIDs; immunoglobulin replacement (IVIG/SCIG) for antibody deficiencies; leniolisib (Joenja, FDA 2023) for APDS; gene therapy for ADA-SCID; abatacept for CTLA4/LRBA deficiency; prophylactic antibiotics; G-CSF for CGD

    How TFRC is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 3, with a bracket where TFRC sits. TFRC and 16 genes near it on chromosome 3, from 195,565,687 to 196,565,686.Chromosome 33q29p26.3p26.2p26.1p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13.11q13.12q13.13q13.2q13.31q13.32q13.33q21.1q21.2q21.3q22.1q22.2q22.3q23q24q25.1q25.2q25.31q25.32q25.33q26.1q26.2q26.31q26.32q26.33q27.1q27.2q27.3q28q29195.6 Mb195.8 Mb196 Mb196.2 Mb196.4 MbAPOD: 195,568,701–195,584,047, reverse strandAPODMUC20: 195,720,868–195,741,123, forward strandMUC20MUC4: 195,746,765–195,811,973, reverse strandMUC4TNK2: 195,863,364–195,911,945, reverse strandTNK2: 195,908,695–195,909,561, reverse strandTFRC: 196,049,284–196,082,090, reverse strandTFRCZDHHC19: 196,197,452–196,211,437, reverse strandZDHHC19SLC51A: 196,211,487–196,244,766, forward strandSLC51APCYT1A: 196,214,222–196,287,957, reverse strandPCYT1A: 196,248,230–196,318,222, reverse strandDYNLT2B: 196,291,219–196,318,328, reverse strandDYNLT2BTM4SF19-DYNLT2B: 196,316,082–196,338,373, reverse strandTM4SF19-DYNLT2BTM4SF19: 196,319,342–196,338,604, reverse strandTM4SF19UBXN7: 196,347,659–196,432,476, reverse strandUBXN7RNF168: 196,468,783–196,503,824, reverse strandRNF168SMCO1: 196,506,877–196,515,368, reverse strandSMCO1WDR53: 196,552,217–196,569,263, reverse strandWDR53Diagram of TFRC: 19 exons on the reverse strand of chromosome 3Exon 3: 1 known disease-causing siteExon 19: 196,049,284–196,052,184, 2,901 basesExon 18: 196,053,418–196,053,558, 141 basesExon 17: 196,055,080–196,055,301, 222 basesExon 16: 196,058,284–196,058,365, 82 basesExon 15: 196,058,574–196,058,632, 59 basesExon 14: 196,060,180–196,060,247, 68 basesExon 13: 196,062,582–196,062,645, 64 basesExon 12: 196,062,854–196,062,939, 86 basesExon 11: 196,064,309–196,064,428, 120 basesExon 10: 196,065,443–196,065,600, 158 basesExon 9: 196,067,518–196,067,657, 140 basesExon 8: 196,068,032–196,068,130, 99 basesExon 7: 196,069,455–196,069,568, 114 basesExon 6: 196,071,396–196,071,498, 103 basesExon 5: 196,072,003–196,072,152, 150 basesExon 4: 196,073,930–196,074,125, 196 basesExon 3: 196,075,159–196,075,360, 202 basesExon 2: 196,077,064–196,077,122, 59 basesExon 1: 196,082,043–196,082,090, 48 bases191816141210864215′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 5 kb of the gene's 32.8 kb; 2,283 of those bases code for the protein.

    How a genome test reads TFRC

    2

    positions in TFRC 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 32.8 kb of TFRC, introns included, not only the 5 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.). TFRC gene: transferrin receptor. Retrieved 17 October 2026, from https://dantelabs.com/genes/tfrc

    Vancouver

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

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