HFE Chromosome 6
Homeostatic iron regulator
Upload your DNA to see your personal genotypes for variants in HFE.
What This Gene Does
The protein encoded by this gene is a membrane protein that is similar to MHC class I-type proteins and associates with beta2-microglobulin (beta2M). It is thought that this protein functions to regulate iron absorption by regulating the interaction of the transferrin receptor with transferrin. The iron storage disorder, hereditary haemochromatosis, is a recessive genetic disorder that results from defects in this gene. [provided by RefSeq, May 2022]
Gene Info
Gene Group
C1-set domain containing
Locus Type
gene with protein product
Location
6p22.2
Ensembl
ENSG00000010704
Associated Conditions (22)
Hereditary hemochromatosis
Hemochromatosis type 1
HFE-related disorder
6 conditions
Inborn genetic diseases
Cystic fibrosis
Bronze diabetes
Cardiomyopathy
Variegate porphyria
See cases
Neuroendocrine neoplasm
Hereditary cancer-predisposing syndrome
Porphyrinuria
Cutaneous photosensitivity
7 conditions
Juvenile hemochromatosis
Nonpapillary renal cell carcinoma
Alzheimer disease type 1
Incidental Discovery
Hepatocellular carcinoma
+2 more conditions
Key Variants
RS114758821
Conflicting classifications of pathogenicity
Hereditary hemochromatosis, Hemochromatosis type 1, HFE-related disorder
Health Risk
RS140080192
Conflicting classifications of pathogenicity
Hereditary hemochromatosis, Hemochromatosis type 1, Hereditary hemochromatosis
Health Risk
RS143175221
Conflicting classifications of pathogenicity
Hemochromatosis type 1, Hereditary hemochromatosis, HFE-related disorder
Health Risk
RS143278243
Conflicting classifications of pathogenicity
Hemochromatosis type 1, Hemochromatosis type 1
Health Risk
RS148161858
Conflicting classifications of pathogenicity
Hereditary hemochromatosis, Hemochromatosis type 1, Hereditary hemochromatosis
Health Risk
RS148307737
Conflicting classifications of pathogenicity
Hemochromatosis type 1, Hemochromatosis type 1
Health Risk
RS1800730
Conflicting classifications of pathogenicity
Hemochromatosis type 1, Hereditary hemochromatosis, 6 conditions
Health Risk
RS201262562
Conflicting classifications of pathogenicity
Hemochromatosis type 1, Hereditary hemochromatosis, Hemochromatosis type 1
Health Risk
RS202027115
Conflicting classifications of pathogenicity
Hereditary hemochromatosis, Hereditary hemochromatosis
Health Risk
RS35201683
Conflicting classifications of pathogenicity
Hereditary hemochromatosis, Hemochromatosis type 1, Hereditary hemochromatosis
Health Risk
RS369807746
Conflicting classifications of pathogenicity
Hemochromatosis type 1, Hereditary hemochromatosis, Hemochromatosis type 1
Health Risk
RS746127216
Conflicting classifications of pathogenicity
Inborn genetic diseases, Hereditary hemochromatosis, Inborn genetic diseases
Health Risk
Related Biomarkers (5)
Ferritin
monitor
strong
Iron
monitor
strong
Transferrin Saturation
monitor
strong
Ferritin
monitor
moderate
Iron
monitor
moderate
Related Supplements (2)
Iron supplements discuss with clinician
strong
HFE C282Y — supplemental iron may worsen iron overload
Vitamin C may interact
moderate
HFE C282Y — vitamin C increases iron absorption, use cautiously
All Variants (47)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS114758821 | Health Risk | Conflicting classifications of pathogenicity | Hereditary hemochromatosis, Hemochromatosis type 1, HFE-related disorder |
| RS140080192 | Health Risk | Conflicting classifications of pathogenicity | Hereditary hemochromatosis, Hemochromatosis type 1, Hereditary hemochromatosis |
| RS143175221 | Health Risk | Conflicting classifications of pathogenicity | Hemochromatosis type 1, Hereditary hemochromatosis, HFE-related disorder |
| RS143278243 | Health Risk | Conflicting classifications of pathogenicity | Hemochromatosis type 1, Hemochromatosis type 1 |
| RS148161858 | Health Risk | Conflicting classifications of pathogenicity | Hereditary hemochromatosis, Hemochromatosis type 1, Hereditary hemochromatosis |
| RS148307737 | Health Risk | Conflicting classifications of pathogenicity | Hemochromatosis type 1, Hemochromatosis type 1 |
| RS1800730 | Health Risk | Conflicting classifications of pathogenicity | Hemochromatosis type 1, Hereditary hemochromatosis, 6 conditions |
| RS201262562 | Health Risk | Conflicting classifications of pathogenicity | Hemochromatosis type 1, Hereditary hemochromatosis, Hemochromatosis type 1 |
| RS202027115 | Health Risk | Conflicting classifications of pathogenicity | Hereditary hemochromatosis, Hereditary hemochromatosis |
| RS35201683 | Health Risk | Conflicting classifications of pathogenicity | Hereditary hemochromatosis, Hemochromatosis type 1, Hereditary hemochromatosis |
| RS369807746 | Health Risk | Conflicting classifications of pathogenicity | Hemochromatosis type 1, Hereditary hemochromatosis, Hemochromatosis type 1 |
| RS746127216 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Hereditary hemochromatosis, Inborn genetic diseases |
| RS772818312 | Health Risk | Conflicting classifications of pathogenicity | Hereditary hemochromatosis, Hereditary hemochromatosis |
| RS1799945 | Health Risk | Conflicting classifications of pathogenicity; other | Hemochromatosis type 1, Hereditary hemochromatosis, Cystic fibrosis |
| RS1800562 | Health Risk | Conflicting classifications of pathogenicity; other; risk factor | Hemochromatosis type 1, Hereditary cancer-predisposing syndrome, Hereditary hemochromatosis |
| RS1192141992 | Health Risk | Likely pathogenic | Hemochromatosis type 1, Nonpapillary renal cell carcinoma, Hemochromatosis type 1 |
| RS1224306184 | Health Risk | Likely pathogenic | Hereditary hemochromatosis, Hereditary hemochromatosis |
| RS1561939338 | Health Risk | Likely pathogenic | Hemochromatosis type 1, Hemochromatosis type 1 |
| RS1762684254 | Health Risk | Likely pathogenic | Hereditary hemochromatosis, Hereditary hemochromatosis |
| RS1762833218 | Health Risk | Likely pathogenic | Hereditary hemochromatosis, Hereditary hemochromatosis |
| RS766992720 | Health Risk | Likely pathogenic | Hemochromatosis type 1, Hemochromatosis type 1 |
| RS776994377 | Health Risk | Likely pathogenic | Alzheimer disease type 1, Hereditary hemochromatosis, Alzheimer disease type 1 |
| RS111033558 | Health Risk | Pathogenic | Hemochromatosis type 1, Hemochromatosis type 1 |
| RS1190990892 | Health Risk | Pathogenic | Hereditary hemochromatosis, Hereditary hemochromatosis |
| RS1199530060 | Health Risk | Pathogenic | Hereditary hemochromatosis, Hemochromatosis type 1, Hereditary hemochromatosis |
| RS1256311452 | Health Risk | Pathogenic | Hereditary hemochromatosis, Hereditary hemochromatosis |
| RS1330944743 | Health Risk | Pathogenic | Hereditary hemochromatosis, Hereditary hemochromatosis |
| RS1383450519 | Health Risk | Pathogenic | Hereditary hemochromatosis, Hereditary hemochromatosis |
| RS146519482 | Health Risk | Pathogenic | Hemochromatosis type 1, Hereditary hemochromatosis, Hemochromatosis type 1 |
| RS1554154042 | Health Risk | Pathogenic | Hereditary hemochromatosis, Hereditary hemochromatosis |
| RS1762806344 | Health Risk | Pathogenic | Hereditary hemochromatosis, Hereditary hemochromatosis |
| RS2481606711 | Health Risk | Pathogenic | Hereditary hemochromatosis, Hereditary hemochromatosis |
| RS2481619371 | Health Risk | Pathogenic | Hereditary hemochromatosis, Hereditary hemochromatosis |
| RS2481620137 | Health Risk | Pathogenic | Hereditary hemochromatosis, Hereditary hemochromatosis |
| RS2481621832 | Health Risk | Pathogenic | Hereditary hemochromatosis, Hereditary hemochromatosis |
| RS771784900 | Health Risk | Pathogenic | Hereditary hemochromatosis, Hereditary hemochromatosis |
| RS773296212 | Health Risk | Pathogenic | Hereditary hemochromatosis, Hereditary hemochromatosis |
| RS777018511 | Health Risk | Pathogenic | Hereditary hemochromatosis, Hereditary hemochromatosis |
| RS780563614 | Health Risk | Pathogenic | Hereditary hemochromatosis, Hereditary hemochromatosis |
| RS984544092 | Health Risk | Pathogenic | Hereditary hemochromatosis, Hereditary hemochromatosis |
| RS111033563 | Health Risk | Pathogenic/Likely pathogenic | Hemochromatosis type 1, Hereditary hemochromatosis, Incidental Discovery |
| RS199916850 | Health Risk | Pathogenic/Likely pathogenic | Hereditary hemochromatosis, Hemochromatosis type 1, Hereditary hemochromatosis |
| RS573745685 | Health Risk | Pathogenic/Likely pathogenic | Hemochromatosis type 1, 6 conditions, Hereditary hemochromatosis |
| RS749553271 | Health Risk | Pathogenic/Likely pathogenic | Hereditary hemochromatosis, Hemochromatosis type 1, Lung cancer |
| RS759524388 | Health Risk | Pathogenic/Likely pathogenic | Hereditary hemochromatosis, Hemochromatosis type 1, Hereditary hemochromatosis |
| RS765804978 | Health Risk | Pathogenic/Likely pathogenic | Hereditary hemochromatosis, 6 conditions, Hemochromatosis type 1 |
| RS773443949 | Health Risk | Pathogenic/Likely pathogenic | Hereditary hemochromatosis, Juvenile hemochromatosis, Hemochromatosis type 1 |