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Aliases for HFE Gene

Aliases for HFE Gene

  • Hemochromatosis 2 3
  • HLA-H 3 4 6
  • High Fe 2 3
  • TFQTL2 3 6
  • MVCD7 3 6
  • HFE1 3 6
  • Hereditary Hemochromatosis Protein HLA-H 3
  • Hereditary Hemochromatosis Protein 3
  • MHC Class I-Like Protein HFE 3
  • HLAH 4
  • HH 3

External Ids for HFE Gene

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 iron metabolism disease and microvascular complications of diabetes 7. Among its related pathways are CDK-mediated phosphorylation and removal of Cdc6. GO annotations related to this gene include receptor binding and peptide antigen binding. An important paralog of this gene is MR1.

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

Genomic Location for HFE Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HFE Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HFE Gene

Regulatory Elements 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

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn110, Asn130, and Asn234

No data available for DME Specific Peptides for HFE Gene

Domains for HFE Gene

Gene Families for HFE Gene

HGNC:
  • C1SET :Immunoglobulin superfamily / C1-set domain containing

UniProtKB/Swiss-Prot:

HFE_HUMAN
Domain:
  • Contains 1 Ig-like C1-type (immunoglobulin-like) domain.:
    • Q30201
Family:
  • Belongs to the MHC class I family.:
    • Q30201
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.

Gene Ontology (GO) - Molecular Function for HFE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003823 antigen binding IBA --
GO:0005102 receptor binding IPI 10638746
GO:0005515 protein binding IPI 10638746
GO:0042605 peptide antigen binding IEA --
genes like me logo Genes that share ontologies with HFE: view
genes like me logo Genes that share phenotypes with HFE: view

Animal Models for HFE Gene

MGI Knock Outs for HFE:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for HFE Gene

Localization for HFE Gene

Subcellular locations from UniProtKB/Swiss-Prot for HFE Gene

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
plasma membrane 4
extracellular 3
endoplasmic reticulum 2
golgi apparatus 1
lysosome 1
mitochondrion 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for HFE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005769 early endosome IDA 15880641
GO:0005886 plasma membrane TAS 10638746
GO:0005887 integral component of plasma membrane TAS 10638746
GO:0009897 external side of plasma membrane IDA 24904118
GO:0016021 integral component of membrane --
genes like me logo Genes that share ontologies with HFE: view

Pathways for HFE Gene

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

Pathways by source for HFE Gene

1 BioSystems pathway for HFE Gene

Gene Ontology (GO) - Biological Process for HFE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001916 positive regulation of T cell mediated cytotoxicity IEA --
GO:0002474 antigen processing and presentation of peptide antigen via MHC class I IEA --
GO:0006461 protein complex assembly TAS 10638746
GO:0006879 cellular iron ion homeostasis TAS 10638746
GO:0006955 immune response IEA --
genes like me logo Genes that share ontologies with HFE: view

Compounds for HFE Gene

(2) HMDB Compounds for HFE Gene

Compound Synonyms Cas Number PubMed IDs
Heme
  • (protoporphyrinato)iron
14875-96-8
Iron
  • Armco iron
7439-89-6

(31) Novoseek inferred chemical compound relationships for HFE Gene

Compound -log(P) Hits PubMed IDs
iron 93.7 406
nash 57.6 19
uroporphyrin 55.7 1
rsai 50.7 1
hemosiderin 36.8 1
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

Integrated Proteomics: protein expression 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 expressions with HFE: view

Orthologs for HFE Gene

This gene was present in the common ancestor of chordates.

Orthologs for HFE Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HFE 36
  • 99.9 (n)
  • 100 (a)
HFE 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HFE 36
  • 83.24 (n)
  • 78.16 (a)
HFE 37
  • 76 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HFE 36
  • 82.13 (n)
  • 78.92 (a)
HFE 37
  • 74 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hfe 36
  • 77.23 (n)
  • 71.12 (a)
Hfe 16
Hfe 37
  • 67 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HFE 37
  • 59 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 35 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Hfe 36
  • 78.3 (n)
  • 72.59 (a)
chicken
(Gallus gallus)
Aves -- 37
  • 31 (a)
ManyToMany
-- 37
  • 31 (a)
ManyToMany
-- 37
  • 25 (a)
ManyToMany
-- 37
  • 28 (a)
ManyToMany
-- 37
  • 28 (a)
ManyToMany
-- 37
  • 28 (a)
ManyToMany
-- 37
  • 24 (a)
ManyToMany
-- 37
  • 24 (a)
ManyToMany
-- 37
  • 30 (a)
ManyToMany
-- 37
  • 24 (a)
ManyToMany
-- 37
  • 30 (a)
ManyToMany
-- 37
  • 26 (a)
ManyToMany
-- 37
  • 26 (a)
ManyToMany
-- 37
  • 30 (a)
ManyToMany
-- 37
  • 29 (a)
ManyToMany
BF1 37
  • 29 (a)
ManyToMany
BFIV21 37
  • 29 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 32 (a)
ManyToMany
-- 37
  • 32 (a)
ManyToMany
-- 37
  • 32 (a)
ManyToMany
-- 37
  • 38 (a)
ManyToMany
-- 37
  • 38 (a)
ManyToMany
-- 37
  • 39 (a)
ManyToMany
-- 37
  • 29 (a)
ManyToMany
-- 37
  • 26 (a)
ManyToMany
-- 37
  • 33 (a)
ManyToMany
-- 37
  • 26 (a)
ManyToMany
-- 37
  • 31 (a)
ManyToMany
-- 37
  • 33 (a)
ManyToMany
-- 37
  • 31 (a)
ManyToMany
-- 37
  • 33 (a)
ManyToMany
-- 37
  • 35 (a)
ManyToMany
-- 37
  • 31 (a)
ManyToMany
-- 37
  • 29 (a)
ManyToMany
-- 37
  • 31 (a)
ManyToMany
-- 37
  • 31 (a)
ManyToMany
-- 37
  • 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

Q30201-HFE_HUMAN
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 MAF
rs707889 -- 26,095,703(-) GCTCA(C/T)TCAGA downstream-variant-500B, utr-variant-3-prime
rs807206 -- 26,088,061(-) GTGGG(A/T)GGAAT intron-variant
rs807207 -- 26,089,108(-) CCCCC(A/C)CACAC intron-variant
rs807208 -- 26,091,919(-) ttaca(A/G)gggtg intron-variant
rs807209 -- 26,092,637(-) CCCTT(C/G)CCAGG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv428137 CNV Loss 18775914

Relevant External Links for HFE Gene

HapMap Linkage Disequilibrium report
HFE
Human Gene Mutation Database (HGMD)
HFE

Disorders for HFE Gene

(6) OMIM Diseases for HFE Gene (613609)

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.
  • 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.
  • 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.

(96) Novoseek inferred disease relationships for HFE Gene

Disease -log(P) Hits PubMed IDs
hereditary hemochromatosis 98.6 157
hemochromatosis 98.3 201
iron overload 97.5 167
hemochromatosis, juvenile 90.5 7
porphyria cutanea tarda 85.6 37

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

GeneTests
HFE
GeneReviews
HFE
Genetic Association Database (GAD)
HFE
Human Genome Epidemiology (HuGE) Navigator
HFE
genes like me logo Genes that share disorders with HFE: view

Publications for HFE Gene

  1. Role of hemochromatosis C282Y and H63D mutations in HFE gene in development of type 2 diabetes and diabetic nephropathy. (PMID: 11423500) Moczulski D.K. … Gawlik B. (Diabetes Care 2001) 3 4 23 49
  2. Contribution of different HFE genotypes to iron overload disease: a pooled analysis. (PMID: 11399207) Burke W. … Khoury M.J. (Genet. Med. 2000) 3 23 49
  3. Haemochromatosis gene mutations in a clustered Italian population: evidence of high prevalence in people of Celtic ancestry. (PMID: 11436126) Pozzato G. … Amoroso A. (Eur. J. Hum. Genet. 2001) 3 23 49
  4. The hemochromatosis gene affects the age of onset of sporadic Alzheimer's disease. (PMID: 11445256) Sampietro M. … Vergani C. (Neurobiol. Aging 2001) 3 23 49
  5. Idiopathic hemochromatosis with the mutation of Ala176Val heterozygous for HFE gene. (PMID: 11446670) Imanishi H. … Hada T. (Intern. Med. 2001) 3 4 23

Products for HFE Gene

  • Addgene plasmids for HFE

Sources for HFE Gene

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