Candidate Gene Information
5 Gene Alias(es)
Links to External Databases
Transcript
DT.100783483 DT.312201 DT.100783479 DT.100783485 DT.95271885 DT.100783486 DT.91759729 DT.100783480
Homologene
88330
Unigene
Hs.233325
OMIM ID
235200
Genetic Association Database
Reported to be linked with 63 diseases
fetal loss, late
colorectal cancer
arthritis
myocardial infarct; atherosclerosis, coronary
cirrhosis
hemochromatosis
skin cancer, non-melanoma
Alzheimer's Disease
iron levels
leukemia; hemochromatosis; iron metabolism
cirrhosis; hepatocellular carcinoma
porphyria cutanea tarda
breast cancer
rheumatoid arthritis
iron levels; soluble transferrin receptor; transferrin
hemochromatosis; dermatomyositis; juvenile arthritis; polymyositis
liver function; iron levels; ferritin; transferrin saturation
hepatitis C, chronic
chronic fatigue
retinopathy, diabetic
liver disease, chronic
diabetes, type 2
iron overload
ferritin; transferrin saturation
diabetes, type 2; liver disease, chronic; hemochromatosis
pregnancy loss, recurrent
Childhood Leukemia
cardiovascular
insulin resistance
thrombophilia and vascular disease
hereditary hemochromatosis
haemochromatosis
Parkinson's disease
Colon Cancer
Cystic Fibrosis
increased serum iron transferrin saturation and hemoglobin
genetic markers
hereditary hemochromatosis in African Americans.
longevity
thromboembolic disease
hepatic iron and fibrosis
cardiovascular death
venous thromboembolism
hereditary hemochromatosis.
increased transferrin saturation
Life expectancy
Cardiomyopathy
Cardiovascular Disease
Coronary Heart Disease
Juvenile Hemochromatosis
Coronary Artery Disease
Myocardial Infarction
hepatitis C
liver cancer
ischaemic heart disease
varicose ulcers
ferritin iron levels liver disease transferrin saturation
iron levels transferrin saturation
hepatitis C, chronic steatohepatitis
ferritin
Atherosclerotic Vascular Disease
porphyria
Protein-Protein Interaction
Interactors
TFR1_HUMAN
B2MG_HUMAN
TFR2_HUMAN
B2MG_PANTR
HFE_HUMAN
References
10638746 "Crystal structure of the hereditary haemochromatosis protein HFE complexed with transferrin receptor." Bennett MJ,Lebron JA,Bjorkman PJ Nature . 2000 Jan 6; 403(6765):46-53.
9465039 "The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding." Feder JN,Penny DM,Irrinki A,Lee VK,Lebron JA,Watson N,Tsuchihashi Z,Sigal E,Bjorkman PJ,Schatzman RC Proceedings of the National Academy of Sciences of the United States of America . 1998 Feb 17; 95(4):1472-7.
9546397 "Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor." Lebron JA,Bennett MJ,Vaughn DE,Chirino AJ,Snow PM,Mintier GA,Feder JN,Bjorkman PJ Cell . 1998 Apr 3; 93(1):111-23.
10791995 "Genes that modify the hemochromatosis phenotype in mice." Levy JE,Montross LK,Andrews NC The Journal of clinical investigation . 2000 May; 105(9):1209-16.
14755292 "The HUPO PSI's molecular interaction format--a community standard for the representation of protein interaction data." Hermjakob H,Montecchi-Palazzi L,Bader G,Wojcik J,Salwinski L,Ceol A,Moore S,Orchard S,Sarkans U,von Mering C,Roechert B,Poux S,Jung E,Mersch H,Kersey P,Lappe M,Li Y,Zeng R,Rana D,Nikolski M,Husi H,Brun C,Shanker K,Grant SG,Sander C,Bork P,Zhu W,Pandey A,Brazma A,Jacq B,Vidal M,Sherman D,Legrain P,Cesareni G,Xenarios I,Eisenberg D,Steipe B,Hogue C,Apweiler R Nature biotechnology . 2004 Feb; 22(2):177-83.
Gene Ontology
1 Functions are identified for HFE
GO ID GO Term Evidence References
GO:0005506
IEA
-
5 Components are identified for HFE
8 Processes are identified for HFE
Gene Orthologs
1 Ortholog(s) in Mouse
Gene ID Gene Symbol Gene Name Gene Locus Gene Alias
15216 Hfe
13 15.0 cM
RP23-480B19.9, MGC151121, MGC151123, MR2
1 Ortholog(s) in Rat
Gene ID Gene Symbol Gene Name Gene Locus Gene Alias
29199 Hfe
17p11-q11
-
Tissue Specific Expression
EST Information
Microarray Expression
SNP Marker Information
Candidate Genes
