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Aliases for HFE Gene

Aliases for HFE Gene

  • Hemochromatosis 2 3 5
  • High Fe 2 3
  • HLA-H 3 4
  • Hereditary Hemochromatosis Protein HLA-H 3
  • MHC Class I-Like Protein HFE 3
  • TFQTL2 3
  • MVCD7 3
  • HFE1 3
  • HLAH 4
  • HH 3

External Ids for HFE Gene

Previous GeneCards Identifiers for HFE Gene

  • GC06P026130
  • GC06P026195
  • GC06P026030

Summaries for HFE Gene

Entrez Gene Summary for HFE Gene

  • 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. At least nine alternatively spliced variants have been described for this gene. Additional variants have been found but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]

GeneCards Summary for HFE Gene

HFE (Hemochromatosis) is a Protein Coding gene. Diseases associated with HFE include Hemochromatosis and Microvascular Complications Of Diabetes 7. GO annotations related to this gene include receptor binding and peptide antigen binding. An important paralog of this gene is HLA-B.

UniProtKB/Swiss-Prot for HFE Gene

  • Binds to transferrin receptor (TFR) and reduces its affinity for iron-loaded transferrin.

Gene Wiki entry for HFE Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HFE Gene

Genomics for HFE Gene

Regulatory Elements for HFE Gene

Enhancers for HFE Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around HFE on UCSC Golden Path with GeneCards custom track

Promoters for HFE Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around HFE on UCSC Golden Path with GeneCards custom track

Genomic Location for HFE Gene

Chromosome:
6
Start:
26,087,281 bp from pter
End:
26,098,343 bp from pter
Size:
11,063 bases
Orientation:
Plus strand

Genomic View for HFE Gene

Genes around HFE on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HFE Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HFE Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HFE Gene

Proteins for HFE Gene

  • Protein details for HFE Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q30201-HFE_HUMAN
    Recommended name:
    Hereditary hemochromatosis protein
    Protein Accession:
    Q30201
    Secondary Accessions:
    • B2CKL0
    • O75929
    • O75930
    • O75931
    • Q17RT0
    • Q96KU5
    • Q96KU6
    • Q96KU7
    • Q96KU8
    • Q9HC64
    • Q9HC68
    • Q9HC70
    • Q9HC83

    Protein attributes for HFE Gene

    Size:
    348 amino acids
    Molecular mass:
    40108 Da
    Quaternary structure:
    • Binds TFR through the extracellular domain in a pH-dependent manner.

    Three dimensional structures from OCA and Proteopedia for HFE Gene

    Alternative splice isoforms for HFE Gene

neXtProt entry for HFE Gene

Proteomics data for HFE Gene at MOPED

Post-translational modifications for HFE Gene

  • Glycosylation at Asn 110, Asn 130, and Asn 234
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for HFE

No data available for DME Specific Peptides for HFE Gene

Domains & Families for HFE Gene

Gene Families for HFE Gene

Graphical View of Domain Structure for InterPro Entry

Q30201

UniProtKB/Swiss-Prot:

HFE_HUMAN :
  • Contains 1 Ig-like C1-type (immunoglobulin-like) domain.
  • Belongs to the MHC class I family.
Domain:
  • Contains 1 Ig-like C1-type (immunoglobulin-like) domain.
Family:
  • Belongs to the MHC class I family.
genes like me logo Genes that share domains with HFE: view

Function for HFE Gene

Molecular function for HFE Gene

GENATLAS Biochemistry:
HFE protein,defective in HH normally expressed in cryptal enterocytes of the duodenum and in placenta,complexing with beta 2 microglobulin and transferrin receptor (TFR2),negative modulator of the uptake of transferrin-bound iron from plasma
UniProtKB/Swiss-Prot Function:
Binds to transferrin receptor (TFR) and reduces its affinity for iron-loaded transferrin.
genes like me logo Genes that share phenotypes with HFE: view

Human Phenotype Ontology for HFE Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for HFE Gene

MGI Knock Outs for HFE:

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for HFE Gene

Localization for HFE Gene

Subcellular locations from UniProtKB/Swiss-Prot for HFE Gene

Cell membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HFE Gene COMPARTMENTS Subcellular localization image for HFE gene
Compartment Confidence
endosome 5
extracellular 5
plasma membrane 5
mitochondrion 3
cytoskeleton 2
cytosol 2
endoplasmic reticulum 2
lysosome 2
nucleus 2
vacuole 2
golgi apparatus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for HFE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005887 integral component of plasma membrane TAS 10638746
GO:0045177 apical part of cell IDA 15880641
GO:0045178 basal part of cell IDA 15880641
genes like me logo Genes that share ontologies with HFE: view

Pathways & Interactions for HFE Gene

SuperPathways for HFE Gene

No Data Available

Gene Ontology (GO) - Biological Process for HFE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002474 NOT antigen processing and presentation of peptide antigen via MHC class I IKR 8696333
GO:0002626 negative regulation of T cell antigen processing and presentation IEA --
GO:0002725 negative regulation of T cell cytokine production IGI 24643698
GO:0006461 protein complex assembly TAS 10638746
GO:0006953 acute-phase response IEA --
genes like me logo Genes that share ontologies with HFE: view

No data available for Pathways by source and SIGNOR curated interactions for HFE Gene

Drugs & Compounds for HFE Gene

(16) Drugs for HFE Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
heme Pharma Agonist 0

(16) Additional Compounds for HFE Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
genes like me logo Genes that share compounds with HFE: view

Transcripts for HFE Gene

Unigene Clusters for HFE Gene

Hemochromatosis:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for HFE Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b · 7c · 7d
SP1: - -
SP2: - -
SP3: - - -
SP4: - - -
SP5: - - -
SP6: - - - -
SP7: - - - -
SP8: - - - - -
SP9: - - - - -
SP10: -
SP11: - - - - - - -

Relevant External Links for HFE Gene

GeneLoc Exon Structure for
HFE
ECgene alternative splicing isoforms for
HFE

Expression for HFE Gene

mRNA expression in normal human tissues for HFE Gene

Protein differential expression in normal tissues from HIPED for HFE Gene

This gene is overexpressed in Spleen (31.0) and Placenta (12.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for HFE Gene



SOURCE GeneReport for Unigene cluster for HFE Gene Hs.233325

mRNA Expression by UniProt/SwissProt for HFE Gene

Q30201-HFE_HUMAN
Tissue specificity: Expressed in all tissues tested except brain.
genes like me logo Genes that share expression patterns with HFE: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners for HFE Gene

Orthologs for HFE Gene

This gene was present in the common ancestor of chordates.

Orthologs for HFE Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia HFE 35
  • 83.24 (n)
  • 78.16 (a)
HFE 36
  • 76 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HFE 35
  • 82.13 (n)
  • 78.92 (a)
HFE 36
  • 74 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hfe 35
  • 77.23 (n)
  • 71.12 (a)
Hfe 16
Hfe 36
  • 67 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia HFE 35
  • 99.9 (n)
  • 100 (a)
HFE 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hfe 35
  • 78.3 (n)
  • 72.59 (a)
oppossum
(Monodelphis domestica)
Mammalia HFE 36
  • 59 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 35 (a)
ManyToMany
chicken
(Gallus gallus)
Aves -- 36
  • 31 (a)
ManyToMany
-- 36
  • 31 (a)
ManyToMany
-- 36
  • 25 (a)
ManyToMany
-- 36
  • 28 (a)
ManyToMany
-- 36
  • 28 (a)
ManyToMany
-- 36
  • 28 (a)
ManyToMany
-- 36
  • 24 (a)
ManyToMany
-- 36
  • 24 (a)
ManyToMany
-- 36
  • 30 (a)
ManyToMany
-- 36
  • 24 (a)
ManyToMany
-- 36
  • 30 (a)
ManyToMany
-- 36
  • 26 (a)
ManyToMany
-- 36
  • 26 (a)
ManyToMany
-- 36
  • 30 (a)
ManyToMany
-- 36
  • 29 (a)
ManyToMany
BF1 36
  • 29 (a)
ManyToMany
BFIV21 36
  • 29 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 32 (a)
ManyToMany
-- 36
  • 32 (a)
ManyToMany
-- 36
  • 32 (a)
ManyToMany
-- 36
  • 38 (a)
ManyToMany
-- 36
  • 38 (a)
ManyToMany
-- 36
  • 39 (a)
ManyToMany
-- 36
  • 29 (a)
ManyToMany
-- 36
  • 26 (a)
ManyToMany
-- 36
  • 33 (a)
ManyToMany
-- 36
  • 26 (a)
ManyToMany
-- 36
  • 31 (a)
ManyToMany
-- 36
  • 33 (a)
ManyToMany
-- 36
  • 31 (a)
ManyToMany
-- 36
  • 33 (a)
ManyToMany
-- 36
  • 35 (a)
ManyToMany
-- 36
  • 31 (a)
ManyToMany
-- 36
  • 29 (a)
ManyToMany
-- 36
  • 31 (a)
ManyToMany
-- 36
  • 31 (a)
ManyToMany
-- 36
  • 32 (a)
ManyToMany
Species with no ortholog for HFE:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for HFE Gene

ENSEMBL:
Gene Tree for HFE (if available)
TreeFam:
Gene Tree for HFE (if available)

Paralogs for HFE Gene

Paralogs for HFE Gene

genes like me logo Genes that share paralogs with HFE: view

Variants for HFE Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for HFE Gene

HFE_HUMAN-Q30201
Genetic variations in HFE define the transferrin serum level quantitative trait locus 2 (TFQTL2) [MIM:614193]. Iron is essential for biochemical functions such as oxygen transport and oxidative phosphorylation. Excessive iron can cause iron-overload-related liver diseases, whereas iron deficiency can lead to anemia. Iron status can be assessed by measuring the levels of serum iron, serum transferrin, transferrin saturation with iron, and serum ferritin.

Sequence variations from dbSNP and Humsavar for HFE Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs1799945 - 26,090,951(+) ATGAT(C/G)ATGAG intron-variant, nc-transcript-variant, reference, missense
rs1800730 Hemochromatosis 1 (HFE1) 26,090,957(+) ATGAG(A/T)GTCGC intron-variant, nc-transcript-variant, reference, missense
rs1800562 Hemochromatosis 1 (HFE1) 26,092,913(+) TACGT(A/G)CCAGG intron-variant, nc-transcript-variant, reference, missense
rs28934889 - 26,090,921(+) GCTAC(A/G)TGGAT intron-variant, nc-transcript-variant, reference, missense
VAR_008112 -

Structural Variations from Database of Genomic Variants (DGV) for HFE Gene

Variant ID Type Subtype PubMed ID
nsv428137 CNV Loss 18775914

Variation tolerance for HFE Gene

Residual Variation Intolerance Score: 83.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.56; 72.23% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HFE Gene

Human Gene Mutation Database (HGMD)
HFE

Disorders for HFE Gene

MalaCards: The human disease database

(47) MalaCards diseases for HFE Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hemochromatosis
  • hfe hemochromatosis, modifier of
microvascular complications of diabetes 7
  • diabetic nephropathy
porphyria cutanea tarda
  • porphyria, hepatoerythropoietic
porphyria variegata
  • variegate porphyria
alzheimer disease
  • alzheimer disease, late-onset
- elite association - COSMIC cancer census association via MalaCards
Search HFE in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

HFE_HUMAN
  • Hemochromatosis 1 (HFE1) [MIM:235200]: A disorder of iron metabolism characterized by iron overload. Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading. {ECO:0000269 PubMed:10094552, ECO:0000269 PubMed:10194428, ECO:0000269 PubMed:10401000, ECO:0000269 PubMed:10575540, ECO:0000269 PubMed:11423500, ECO:0000269 PubMed:11446670, ECO:0000269 PubMed:12542741, ECO:0000269 PubMed:12584229, ECO:0000269 PubMed:12737937, ECO:0000269 PubMed:14633868, ECO:0000269 PubMed:15046077, ECO:0000269 PubMed:18157833, ECO:0000269 PubMed:8696333, ECO:0000269 PubMed:9024376, ECO:0000269 PubMed:9106528, ECO:0000269 PubMed:9620340, ECO:0000269 Ref.25}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Microvascular complications of diabetes 7 (MVCD7) [MIM:612635]: Pathological conditions that develop in numerous tissues and organs as a consequence of diabetes mellitus. They include diabetic retinopathy, diabetic nephropathy leading to end-stage renal disease, and diabetic neuropathy. Diabetic retinopathy remains the major cause of new-onset blindness among diabetic adults. It is characterized by vascular permeability and increased tissue ischemia and angiogenesis. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Variegate porphyria (VP) [MIM:176200]: A form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. Variegate porphyria is the most common form of porphyria in South Africa. It is characterized by skin hyperpigmentation and hypertrichosis, abdominal pain, tachycardia, hypertension and neuromuscular disturbances. High fecal levels of protoporphyrin and coproporphyrin, increased urine uroporphyrins and iron overload are typical markers of the disease. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. Iron overload due to HFE variants is a precipitating or exacerbating factor in variegate porphyria.

Genatlas disease for HFE Gene

hemochromatosis,adult form,characterized by increased iron absorption of dietary iron leading to iron accumulation and cirrhosis of the liver,diabetes mellitus,skin pigmentation,cardiac arrhythmia and failure and arthropathy,excluding juvenile form,with increased risk of acute myocardial infarction in carriers of the Cys282Tyr mutation

Relevant External Links for HFE

Genetic Association Database (GAD)
HFE
Human Genome Epidemiology (HuGE) Navigator
HFE
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HFE
genes like me logo Genes that share disorders with HFE: view

Publications for HFE Gene

  1. Identification of new mutations of the HFE, hepcidin, and transferrin receptor 2 genes by denaturing HPLC analysis of individuals with biochemical indications of iron overload. (PMID: 14633868) Biasiotto G. … Arosio P. (Clin. Chem. 2003) 3 4 48 67
  2. Serum ferritin is a clinical biomarker in Japanese patients with nonalcoholic steatohepatitis (NASH) independent of HFE gene mutation. (PMID: 19267193) Yoneda M. … Nakajima A. (Dig. Dis. Sci. 2010) 3 23
  3. HFE gene mutations and Wilson's disease in Sardinia. (PMID: 19640812) Sorbello O. … Demelia L. (Dig Liver Dis 2010) 3 23
  4. HFE genotype, parenchymal iron accumulation, and liver fibrosis in patients with nonalcoholic fatty liver disease. (PMID: 19931264) Valenti L. … Fargion S. (Gastroenterology 2010) 3 23
  5. Associations among behavior-related susceptibility factors in porphyria cutanea tarda. (PMID: 19948245) Jalil S. … Anderson K.E. (Clin. Gastroenterol. Hepatol. 2010) 3 23

Products for HFE Gene

Sources for HFE Gene

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