Property Summary

NCBI Gene PubMed Count 856
Grant Count 1,221
R01 Count 809
Funding $128,212,320.37
PubMed Score 2142.67
PubTator Score 2117.84

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (6)

Disease log2 FC p
malignant mesothelioma -2.500 0.000
psoriasis 1.100 0.000
osteosarcoma 1.981 0.000
posterior fossa group A ependymoma 1.300 0.000
tuberculosis 1.100 0.000
ovarian cancer 1.100 0.000

Synonym

Accession Q30201 B2CKL0 O75929 O75930 O75931 Q17RT0 Q96KU5 Q96KU6 Q96KU7 Q96KU8 Q9HC64 Q9HC68 Q9HC70 Q9HC83
Symbols HH
HFE1
HLA-H
MVCD7
TFQTL2

Gene

HFE

PDB

1DE4   1A6Z   1C42  

Gene RIF (969)

PMID Text
26852655 Total iron binding capacity was strongly associated with variants in and near the TF gene, and with variants in HFE gene in premenopausal women of European descent.
26725908 The HFE- and non-HFE hemochromatosis syndromes represent the paradigms of genetic iron overload.
26535689 this analysis provided strong evidence that the HFE H63D polymorphism may play a critical role in the increased aggressiveness of hepatocellular carcinoma and pancreatic cancer.
26501199 study provides evidence that the complex allele HFE-c.[187C>G;340+4T>C] has a role, as genetic predisposition factor, on iron overload in the Sao Miguel population
26456104 this review describes the pertinence of HFE and HFE to mechanisms of iron homeostasis, the origin and fixation of HFE polymorphisms in European and other populations, and the genetic and biochemical basis of HFE hemochromatosis and iron overload. [review]
26365338 High iron overload is associated with HFE p.Cys282Tyr homozygotes than in compound heterozygotes.
26281176 ALLELES C282Y AND H63D HFE GENE, INSULIN RESISTANCE AND SUSCEPTIBILITY TO DISTURBANCE OF PORPHYRIN METABOLISM IN NON-ALCOHOLIC FATTY LIVER DISEASE
26174855 Its polymorphism does not influence ALS phenotype and survival.
26174684 haplotype analysis of common HFE mutations in the Portuguese population, is reported.
26107216 H63D and C282Y polymorphisms are associated with an increased risk of overall cancer.
More...

AA Sequence

MGPRARPALLLLMLLQTAVLQGRLLRSHSLHYLFMGASEQDLGLSLFEALGYVDDQLFVFYDHESRRVEP      1 - 70
RTPWVSSRISSQMWLQLSQSLKGWDHMFTVDFWTIMENHNHSKESHTLQVILGCEMQEDNSTEGYWKYGY     71 - 140
DGQDHLEFCPDTLDWRAAEPRAWPTKLEWERHKIRARQNRAYLERDCPAQLQQLLELGRGVLDQQVPPLV    141 - 210
KVTHHVTSSVTTLRCRALNYYPQNITMKWLKDKQPMDAKEFEPKDVLPNGDGTYQGWITLAVPPGEEQRY    211 - 280
TCQVEHPGLDQPLIVIWEPSPSGTLVIGVISGIAVFVVILFIGILFIILRKRQGSRGAMGHYVLAERE      281 - 348
//

Text Mined References (859)

PMID Year Title
26852655 2016 Genome-wide association study of serum iron phenotypes in premenopausal women of European descent.
26725908 2016 Iron and the liver.
26535689 2015 Implicating the H63D polymorphism in the HFE gene in increased incidence of solid cancers: a meta-analysis.
26501199 2015 Carriers of the Complex Allele HFE c.[187C>G;340+4T>C] Have Increased Risk of Iron Overload in São Miguel Island Population (Azores, Portugal).
26456104 2015 HFE gene: Structure, function, mutations, and associated iron abnormalities.
26365338 2015 Penetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network.
26281176 2015 [ALLELES C282Y AND H63D HFE GENE, INSULIN RESISTANCE AND SUSCEPTIBILITY TO DISTURBANCE OF PORPHYRIN METABOLISM IN NON-ALCOHOLIC FATTY LIVER DISEASE].
26174855 2015 HFE p.H63D polymorphism does not influence ALS phenotype and survival.
26174684 2015 Intragenic haplotype analysis of common HFE mutations in the Portuguese population.
26107216 2015 Meta-Analysis of the Association between H63D and C282Y Polymorphisms in HFE and Cancer Risk.
More...