HFE homeostatic iron regulator
Gene ID: 3077, updated on 7-Apr-2024Gene type: protein coding
Also known as: HH; HFE1; HLA-H; MVCD7; TFQTL2
- See all available tests in GTR for this gene
- Go to complete Gene record for HFE
- Go to Variation Viewer for HFE variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study of red blood cell traits using the electronic medical record. GeneReviews: Not available | |
| A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. GeneReviews: Not available | |
| Association of HFE and TMPRSS6 genetic variants with iron and erythrocyte parameters is only in part dependent on serum hepcidin concentrations. GeneReviews: Not available | |
| Biological, clinical and population relevance of 95 loci for blood lipids. GeneReviews: Not available | |
| Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways. GeneReviews: Not available | |
| Common variants in TMPRSS6 are associated with iron status and erythrocyte volume. GeneReviews: Not available | |
| Discovery and refinement of loci associated with lipid levels. GeneReviews: Not available | |
| Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits. GeneReviews: Not available | |
| Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. GeneReviews: Not available | |
| Genome-wide admixture and association study of serum iron, ferritin, transferrin saturation and total iron binding capacity in African Americans. GeneReviews: Not available | |
| Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network. GeneReviews: Not available | |
| Genome-wide association study identifies genetic loci associated with iron deficiency. GeneReviews: Not available | |
| Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. GeneReviews: Not available | |
| Genome-wide association study identifies two loci strongly affecting transferrin glycosylation. GeneReviews: Not available | |
| Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels. GeneReviews: Not available | |
| Genome-wide association study of hematological and biochemical traits in a Japanese population. GeneReviews: Not available | |
| GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children. GeneReviews: Not available | |
| Hemochromatosis type 1 | See labs |
| Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels. GeneReviews: Not available | |
| Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. GeneReviews: Not available | |
| Novel association to the proprotein convertase PCSK7 gene locus revealed by analysing soluble transferrin receptor (sTfR) levels. GeneReviews: Not available | |
| Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis. GeneReviews: Not available | |
| Sequence variants in three loci influence monocyte counts and erythrocyte volume. GeneReviews: Not available | |
| Seventy-five genetic loci influencing the human red blood cell. GeneReviews: Not available | |
| Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels. GeneReviews: Not available |
Genomic context
- Location:
- 6p22.2
- Sequence:
- Chromosome: 6; NC_000006.12 (26087429..26098343)
- Total number of exons:
- 7
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for HFE variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ALSoD/HFE genetic mutations
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- HFE database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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