HFE
homeostatic iron regulator | HFE1, HLA-H

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]

Biological processes 55 terms
BMP signaling pathway (GO:0030509)HFE-transferrin receptor complex (GO:1990712)HFE-transferrin receptor complex (GO:1990712)MHC class I protein complex (GO:0042612)MHC class I protein complex (GO:0042612)antigen processing and presentation (GO:0019882)antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)apical part of cell (GO:0045177)basal part of cell (GO:0045178)beta-2-microglobulin binding (GO:0030881)beta-2-microglobulin binding (GO:0030881)cell surface receptor signaling pathway (GO:0007166)cellular response to iron ion (GO:0071281)co-receptor binding (GO:0039706)cytoplasmic vesicle (GO:0031410)early endosome (GO:0005769)external side of plasma membrane (GO:0009897)external side of plasma membrane (GO:0009897)extracellular region (GO:0005576)extracellular region (GO:0005576)intracellular iron ion homeostasis (GO:0006879)multicellular organismal-level iron ion homeostasis (GO:0060586)negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)negative regulation of T cell cytokine production (GO:0002725)negative regulation of antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:1904283)negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)negative regulation of ubiquitin-dependent protein catabolic process (GO:2000059)peptide antigen binding (GO:0042605)peptide antigen binding (GO:0042605)perinuclear region of cytoplasm (GO:0048471)plasma membrane (GO:0005886)plasma membrane (GO:0005886)plasma membrane (GO:0005886)positive regulation of SMAD protein signal transduction (GO:0060391)positive regulation of gene expression (GO:0010628)positive regulation of gene expression (GO:0010628)positive regulation of peptide hormone secretion (GO:0090277)positive regulation of receptor-mediated endocytosis (GO:0048260)protein binding (GO:0005515)protein-containing complex assembly (GO:0065003)receptor-mediated endocytosis (GO:0006898)recycling endosome (GO:0055037)regulation of T cell mediated immunity (GO:0002709)regulation of iron ion transport (GO:0034756)regulation of iron ion transport (GO:0034756)regulation of protein localization to cell surface (GO:2000008)response to iron ion (GO:0010039)response to iron ion starvation (GO:1990641)signaling receptor binding (GO:0005102)transferrin receptor binding (GO:1990459)transferrin receptor binding (GO:1990459)transferrin receptor binding (GO:1990459)transferrin transport (GO:0033572)transporter activator activity (GO:0141109)
Expression (TPM)
HFE — as a Regulated Gene

TFs regulating HFE 0 TFs

Transcription factors with Perturb-seq knockdown data for HFE. The Binding column indicates whether any binding evidence exists for this TF–gene pair (ChIP-seq or motif footprint peaks). The Mean coef is the average Perturb-seq regression coefficient across active gRNAs (positive = HFE upregulated upon KD; negative = downregulated). The Outlier column indicates whether this gene is in the top or bottom 5% of all TF knockdown effects.

Data: Effect:
TF Mean coef Binding Outlier TF→Gene link

Elements linked to HFE

Open chromatin peaks (ATAC-seq) in the genomic neighbourhood of HFE, linked by TSS proximity or chromatin conformation (Multiome / HiCAR). Each element overlaps at least one TF ChIP-seq binding site — the TFs column shows how many distinct TFs bind that element.

Accessibility Element Dist. to TSS Link type TFs
chr6:26,087,383–26,088,017 at TSS At TSS 572
chr6:26,097,401–26,097,584 10.0 kb Proximal (<10kb) 186

Genome Browser

Genomic view of the HFE locus showing ATAC-seq accessibility and RNA-seq expression across the ESC → DE time course, together with TF binding peaks and element-to-TSS loop connections.

chr6:26,077,383 – 26,107,584
Proximal 1 kb Distal 10 kb Multiome HiCAR ATAC-seq RNA-seq