Gene
HFE
homeostatic iron regulator
- HGNC 4886↗(opens in a new tab)
- Ensembl gene ENSG00000010704↗(opens in a new tab)
- NCBI Gene 3077↗(opens in a new tab)
Summary
- Cytogenetic location
- 6p22.2
- Coordinates
- Chromosome 6: 26,087,429–26,098,343 (GRCh38)
- Exons
- 6 exons across 10.9 kb
- Protein
- 348 amino acids
- Also known as
- HLA-H, HFE1
- MANE Select transcript
- ENST00000357618.10NM_000410.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
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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
- On the ACMG secondary findings list
What knowing changes
Phlebotomy, iron chelation, iron restriction diet, family screening
Trait report that reads HFE
Nutrigenetics
- Iron Overload (C282Y)
- Iron Absorption (H63D)
How HFE is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
- Variants with a page
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 5.2 kb of the gene's 10.9 kb; 1,047 of those bases code for the protein.
How a genome test reads HFE
40
positions in HFE 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 10.9 kb of HFE, introns included, not only the 5.2 kb of exons.
Variants with a page (4)
The HFE variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.
| Variant | HGVS c. | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|---|
| c.1006+1G>A | Intron 5 | 26,093,233 | Pathogenic/likely pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| C282Y | c.845G>A | Exon 4 | 26,092,913 | Pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L183Gfs*60 | c.546_547del | Exon 3 | 26,091,518 | Likely pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R71X | c.211C>T | Exon 2 | 26,090,975 | Pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
Genes linked to the same conditions
Traits linked to HFE
The Human Phenotype Ontology lists these as features of the rare conditions HFE can cause. Each trait's page lists the other genes linked to it.
Abnormality of the genitourinary system
- Absent vas deferens
- Male infertility
- Abnormal absence of menstruation
- Abnormal erection
- Decreased libido
- Infertility
- Testicular degeneration
- Kidney stone
Show 2 more traits
External links
Gene records
Transcript
Protein
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
Dante Labs. (n.d.). HFE gene: homeostatic iron regulator. Retrieved 17 October 2026, from https://dantelabs.com/genes/hfe
Dante Labs. HFE gene: homeostatic iron regulator [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/hfe
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