Hfe (homeostatic iron regulator) - Rat Genome Database

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Gene: Hfe (homeostatic iron regulator) Rattus norvegicus
Symbol: Hfe
Name: homeostatic iron regulator
RGD ID: 2793
Description: Predicted to enable beta-2-microglobulin binding activity; co-receptor binding activity; and transferrin receptor binding activity. Involved in several processes, including liver regeneration; multicellular organismal-level iron ion homeostasis; and response to starvation. Located in apical part of cell and terminal web. Human ortholog(s) of this gene implicated in several diseases, including acute porphyria (multiple); arthritis (multiple); bone marrow cancer (multiple); hemochromatosis (multiple); and liver disease (multiple). Orthologous to human HFE (homeostatic iron regulator); INTERACTS WITH 6-propyl-2-thiouracil; acrylamide; ammonium chloride.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: hemochromatosis; hereditary hemochromatosis protein homolog; RT1-CAFE
RGD Orthologs
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Latest Assembly: mRatBN7.2 - mRatBN7.2 Assembly
Rat AssemblyChrPosition (strand)SourceGenome Browsers
mRatBN7.21741,413,451 - 41,421,502 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1741,413,451 - 41,421,502 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1741,489,877 - 41,497,957 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01743,093,927 - 43,102,007 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01741,372,593 - 41,380,657 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01743,661,276 - 43,669,327 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1743,661,222 - 43,669,985 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01745,515,737 - 45,523,531 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41748,469,927 - 48,478,502 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1X40,352,010 - 40,353,825 (-)NCBI
Celera1741,045,860 - 41,053,914 (+)NCBICelera
Cytogenetic Map17p11NCBI
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations     Click to see Annotation Detail View
Abdominal Pain  (ISO)
acute lymphoblastic leukemia  (ISO)
Alcoholic Liver Diseases  (IEP)
Alzheimer's disease  (ISO)
Alzheimer's disease 1  (ISO)
aphthous stomatitis  (ISO)
autism spectrum disorder  (ISO)
beta thalassemia  (ISO)
Birth Weight  (ISO)
breast cancer  (ISO)
Cardiomegaly  (ISO)
cardiomyopathy  (ISO)
carotid artery disease  (ISO)
Chronic Pain  (ISO)
colorectal cancer  (ISO)
coronary artery disease  (ISO)
Crohn's disease  (ISO)
cystic fibrosis  (ISO)
diabetes mellitus  (ISO)
diabetic angiopathy  (ISO)
Diabetic Nephropathies  (ISO)
diabetic retinopathy  (ISO)
dilated cardiomyopathy  (ISO)
fatty liver disease  (ISO)
genetic disease  (ISO)
hemochromatosis  (ISO)
hemochromatosis type 1  (ISO,ISS)
hemochromatosis type 2  (ISO)
hepatic veno-occlusive disease  (ISO)
hepatitis C  (ISO)
hepatocellular carcinoma  (ISO)
Hereditary Neoplastic Syndromes  (ISO)
intestinal obstruction  (ISO)
iron deficiency anemia  (ISO)
Iron Overload  (ISO)
juvenile rheumatoid arthritis  (ISO)
Lead Poisoning  (ISO)
liver cirrhosis  (ISO)
liver disease  (ISO)
Meconium Ileus  (ISO)
multiple myeloma  (ISO)
myelodysplastic syndrome  (ISO)
myelofibrosis  (ISO)
myocardial infarction  (ISO)
Myocardial Ischemia  (ISO)
Nervous System Malformations  (ISO)
neuropathy  (ISO)
non-alcoholic fatty liver disease  (ISO)
obesity  (ISO)
osteoarthritis  (ISO)
Osteoarthritis, Hip  (ISO)
osteoporosis  (ISO)
ovarian cancer  (ISO)
Pain  (ISO)
Parkinson's disease  (ISO)
peripheral nervous system disease  (ISO)
peripheral vascular disease  (ISO)
polycythemia vera  (ISO)
polymyalgia rheumatica  (ISO)
porphyria  (ISO)
porphyria cutanea tarda  (ISO)
Presenile and Senile Dementia  (ISO)
Refractory Anemia  (ISO)
retinal degeneration  (ISO)
rheumatoid arthritis  (ISO)
Sarcopenia  (ISO)
type 2 diabetes mellitus  (ISO)
Varicose Ulcer  (ISO)
variegate porphyria  (ISO)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (ISO)
3-phenylprop-2-enal  (ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (EXP)
acrylamide  (EXP)
ammonium chloride  (EXP)
antirheumatic drug  (ISO)
arsenous acid  (ISO)
benzo[a]pyrene  (ISO)
bisphenol A  (EXP,ISO)
butanal  (ISO)
cadmium dichloride  (EXP)
carbon nanotube  (ISO)
ceric oxide  (ISO)
CGP 52608  (ISO)
chlorpyrifos  (ISO)
cisplatin  (ISO)
cobalt dichloride  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
cyclosporin A  (ISO)
decabromodiphenyl ether  (EXP)
dexamethasone  (ISO)
diarsenic trioxide  (ISO)
didanosine  (ISO)
diquat  (ISO)
doxorubicin  (ISO)
endosulfan  (EXP)
entinostat  (ISO)
genistein  (ISO)
gentamycin  (EXP)
glutathione  (EXP)
hydralazine  (ISO)
hydroquinone  (ISO)
indometacin  (ISO)
iron atom  (ISO)
iron(0)  (ISO)
isoprenaline  (ISO)
ivermectin  (ISO)
lead diacetate  (ISO)
lead(0)  (ISO)
manganese atom  (ISO)
manganese(0)  (ISO)
manganese(II) chloride  (ISO)
N-ethyl-N-nitrosourea  (ISO)
nefazodone  (EXP)
ozone  (ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
phenobarbital  (EXP)
pirinixic acid  (EXP)
pregnenolone 16alpha-carbonitrile  (EXP)
propanal  (ISO)
propiconazole  (ISO)
rotenone  (EXP)
silicon dioxide  (ISO)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (ISO)
stavudine  (ISO)
succimer  (ISO)
testosterone  (ISO)
tetrachloromethane  (EXP)
thioacetamide  (EXP)
torcetrapib  (ISO)
triadimefon  (ISO)
valproic acid  (ISO)
zinc atom  (ISO)
zinc protoporphyrin  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Molecular Function


References - curated
# Reference Title Reference Citation
1. Investigation of genetic variants of genes of the hemochromatosis pathway and their role in breast cancer. Abraham BK, etal., Cancer Epidemiol Biomarkers Prev. 2005 May;14(5):1102-7.
2. HFE C282Y mutation as a genetic modifier influencing disease susceptibility for chronic myeloproliferative disease. Andrikovics H, etal., Cancer Epidemiol Biomarkers Prev. 2009 Mar;18(3):929-34. doi: 10.1158/1055-9965.EPI-08-0359. Epub 2009 Mar 3.
3. Common variable immunodeficiency and IgG subclass deficiency in central Alabama hemochromatosis probands homozygous for HFE C282Y. Barton JC, etal., Blood Cells Mol Dis. 2003 Jul-Aug;31(1):102-11.
4. Genotypic and phenotypic heterogeneity of African Americans with primary iron overload. Barton JC, etal., Blood Cells Mol Dis. 2003 Nov-Dec;31(3):310-9.
5. Interaction between haemochromatosis and transferrin receptor genes in different neoplastic disorders. Beckman LE, etal., Carcinogenesis. 1999 Jul;20(7):1231-3.
6. Expanding the natural history of nonalcoholic steatohepatitis: from cryptogenic cirrhosis to hepatocellular carcinoma. Bugianesi E, etal., Gastroenterology. 2002 Jul;123(1):134-40.
7. Association between HFE mutations and acute myocardial infarction: a study in patients from Northern and Southern Italy. Candore G, etal., Blood Cells Mol Dis. 2003 Jul-Aug;31(1):57-62.
8. Mutation H63D in the HFE gene confers risk for the development of type 2 diabetes mellitus but not for chronic complications. Colli ML, etal., J Diabetes Complications. 2011 Jan-Feb;25(1):25-30. doi: 10.1016/j.jdiacomp.2009.12.002. Epub 2010 Jan 25.
9. Porphyria cutanea tarda, hepatitis C, uroporphyrinogen decarboxylase and mutations of HFE gene. A case-control study. Cribier B, etal., Dermatology. 2009;218(1):15-21. doi: 10.1159/000173696. Epub 2008 Nov 12.
10. An extensive analysis of the hereditary hemochromatosis gene HFE and neighboring histone genes: associations with childhood leukemia. Davis CF and Dorak MT, Ann Hematol. 2010 Apr;89(4):375-84. doi: 10.1007/s00277-009-0839-y. Epub 2009 Oct 6.
11. The role of TMPRSS6 and HFE variants in iron deficiency anemia in celiac disease. De Falco L, etal., Am J Hematol. 2018 Mar;93(3):383-393. doi: 10.1002/ajh.24991. Epub 2017 Dec 18.
12. Iron-dependent regulation of MDM2 influences p53 activity and hepatic carcinogenesis. Dongiovanni P, etal., Am J Pathol. 2010 Feb;176(2):1006-17. Epub 2009 Dec 17.
13. The C282Y mutation of HFE is another male-specific risk factor for childhood acute lymphoblastic leukemia. Dorak MT, etal., Blood. 1999 Dec 1;94(11):3957.
14. Decreased Bone Formation Explains Osteoporosis in a Genetic Mouse Model of Hemochromatosiss. Doyard M, etal., PLoS One. 2016 Feb 1;11(2):e0148292. doi: 10.1371/journal.pone.0148292. eCollection 2016.
15. Clinical characteristics of type 2 diabetes in patients with mutations of HFE. Dubois-Laforgue D, etal., Diabetes Metab. 2000 Feb;26(1):65-8.
16. Beyond Human Leukocyte Antigen Class I Antigens: Hereditary Hemochromatosis Gene Mutations in Recurrent Aphthous Oral Ulcers and Behçet Disease in the South of Tunisia. ElAoud S, etal., Med Princ Pract. 2017;26(5):427-432. doi: 10.1159/000481782. Epub 2017 Sep 26.
17. The D519G Polymorphism of Glyceronephosphate O-Acyltransferase Is a Risk Factor for Familial Porphyria Cutanea Tarda. Farrell CP, etal., PLoS One. 2016 Sep 23;11(9):e0163322. doi: 10.1371/journal.pone.0163322. eCollection 2016.
18. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Feder JN, etal., Nat Genet. 1996 Aug;13(4):399-408.
19. Liver HFE protein content is posttranscriptionally decreased in iron-deficient mice and rats. Frýdlová J, etal., Am J Physiol Gastrointest Liver Physiol. 2018 Oct 1;315(4):G560-G568. doi: 10.1152/ajpgi.00070.2018. Epub 2018 Jun 21.
20. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27.
21. Increased hepatic iron concentration in nonalcoholic steatohepatitis is associated with increased fibrosis. George DK, etal., Gastroenterology. 1998 Feb;114(2):311-8.
22. Absence of iron-regulatory protein Hfe results in hyperproliferation of retinal pigment epithelium: role of cystine/glutamate exchanger. Gnana-Prakasam JP, etal., Biochem J. 2009 Nov 11;424(2):243-52. doi: 10.1042/BJ20090424.
23. Structure and liver cell expression pattern of the HFE gene in the rat. Holmstrom P, etal., J Hepatol 2003 Sep;39(3):308-14.
24. Frequency of HFE gene mutations in Iranian beta-thalassaemia minor patients. Jazayeri M, etal., Eur J Haematol. 2003 Dec;71(6):408-11.
25. Association of HFE gene C282Y and H63D mutations with liver cirrhosis in the Lithuanian population. Juzėnas S, etal., Medicina (Kaunas). 2016;52(5):269-275. doi: 10.1016/j.medici.2016.09.004. Epub 2016 Oct 3.
26. The hemochromatosis C282Y allele: a risk factor for hepatic veno-occlusive disease after hematopoietic stem cell transplantation. Kallianpur AR, etal., Bone Marrow Transplant. 2005 Jun;35(12):1155-64.
27. Increased prevalence of the HFE C282Y hemochromatosis allele in women with breast cancer. Kallianpur AR, etal., Cancer Epidemiol Biomarkers Prev. 2004 Feb;13(2):205-12.
28. Frequency of hemochromatosis gene (HFE) mutations in Russian healthy women and patients with estrogen-dependent cancers. Kondrashova TV, etal., Biochim Biophys Acta. 2006 Jan;1762(1):59-65. Epub 2005 Sep 23.
29. Hemochromatosis gene (HFE) polymorphisms are not associated with peripheral arterial disease. Koppel H, etal., Thromb Haemost. 2004 Jun;91(6):1258-9.
30. Long-term sequelae of HFE deletion in C57BL/6 x 129/O1a mice, an animal model for hereditary haemochromatosis. Lebeau A, etal., Eur J Clin Invest. 2002 Aug;32(8):603-12.
31. Transcriptome Analysis of Acute Phase Liver Graft Injury in Liver Transplantation. Lee NP, etal., Biomedicines. 2018 Apr 6;6(2). pii: biomedicines6020041. doi: 10.3390/biomedicines6020041.
32. Impact of hemochromatosis gene mutations on cardiac status in doxorubicin-treated survivors of childhood high-risk leukemia. Lipshultz SE, etal., Cancer. 2013 Oct 1;119(19):3555-62. doi: 10.1002/cncr.28256. Epub 2013 Jul 16.
33. Haemochromatosis gene mutations in idiopathic dilated cardiomyopathy. Mahon NG, etal., Heart. 2000 Nov;84(5):541-7.
34. Nonalcoholic fatty liver disease: a feature of the metabolic syndrome. Marchesini G, etal., Diabetes. 2001 Aug;50(8):1844-50.
35. H63D mutation in the HFE gene increases iron overload in beta-thalassemia carriers. Melis MA, etal., Haematologica. 2002 Mar;87(3):242-5.
36. Rat ISS GO annotations from MGI mouse gene data--August 2006 MGD data from the GO Consortium
37. Changes in the expression of intestinal iron transport and hepatic regulatory molecules explain the enhanced iron absorption associated with pregnancy in the rat. Millard KN, etal., Gut. 2004 May;53(5):655-60.
38. Iron-regulatory gene expression during liver regeneration. Mollbrink A, etal., Scand J Gastroenterol. 2012 May;47(5):591-600. doi: 10.3109/00365521.2012.661761. Epub 2012 Feb 27.
39. HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis. Mura C, etal., Blood. 1999 Apr 15;93(8):2502-5.
40. Ferroportin-1 is a 'nuclear'-negative acute-phase protein in rat liver: a comparison with other iron-transport proteins. Naz N, etal., Lab Invest. 2012 Jun;92(6):842-56. doi: 10.1038/labinvest.2012.52.
41. Electronic Transfer of LocusLink and RefSeq Data NCBI rat LocusLink and RefSeq merged data July 26, 2002
42. Hemochromatosis-associated gene mutations in patients with myelodysplastic syndromes with refractory anemia with ringed sideroblasts. Nearman ZP, etal., Am J Hematol. 2007 Dec;82(12):1076-9.
43. The HFE gene is associated to an earlier age of onset and to the presence of diabetic nephropathy in diabetes mellitus type 2. Oliva R, etal., Endocrine. 2004 Jul;24(2):111-4.
44. HFE gene mutations in Brazilian thalassemic patients. Oliveira TM, etal., Braz J Med Biol Res. 2006 Dec;39(12):1575-80.
45. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
46. Hemochromatosis gene variants in patients with cardiomyopathy. Pereira AC, etal., Am J Cardiol. 2001 Aug 15;88(4):388-91.
47. A mouse model of familial porphyria cutanea tarda. Phillips JD, etal., Proc Natl Acad Sci U S A. 2001 Jan 2;98(1):259-64.
48. Common conditions associated with hereditary haemochromatosis genetic variants: cohort study in UK Biobank. Pilling LC, etal., BMJ. 2019 Jan 16;364:k5222. doi: 10.1136/bmj.k5222.
49. [Mutations in the HFE gene in patients with rheumatic diseases]. Putova I, etal., Cas Lek Cesk. 2005;144(6):391-7; discussion 397-8.
50. Transferrin Level Before Treatment and Genetic Polymorphism in HFE Gene as Predictive Markers for Response to Adalimumab in Crohn's Disease Patients. Repnik K, etal., Biochem Genet. 2016 Aug;54(4):476-486. doi: 10.1007/s10528-016-9734-0. Epub 2016 Apr 26.
51. GOA pipeline RGD automated data pipeline
52. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
53. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
54. Comprehensive gene review and curation RGD comprehensive gene curation
55. Synergy between the C2 allele of transferrin and the C282Y allele of the haemochromatosis gene (HFE) as risk factors for developing Alzheimer's disease. Robson KJ, etal., J Med Genet 2004 Apr;41(4):261-5.
56. The hereditary hemochromatosis protein, HFE, specifically regulates transferrin-mediated iron uptake in HeLa cells. Roy CN, etal., J Biol Chem 1999 Mar 26;274(13):9022-8.
57. Cloning, sequencing and characterization of the rat hereditary hemochromatosis promoter: comparison of the human, mouse and rat HFE promoter regions. Sanchez M, etal., Gene 1998 Dec 28;225(1-2):77-87.
58. Glutathione S-transferase (GST) polymorphisms as risk factors for cancer in a highly homogeneous population from southern Italy. Sgambato A, etal., Anticancer Res. 2002 Nov-Dec;22(6B):3647-52.
59. Mutations in the HFE gene can be associated with increased lung disease severity in cystic fibrosis. Smith DJ, etal., Gene. 2019 Jan 30;683:12-17. doi: 10.1016/j.gene.2018.10.002. Epub 2018 Oct 3.
60. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.
61. Iron overload exacerbates age-associated cardiac hypertrophy in a mouse model of hemochromatosis. Sukumaran A, etal., Sci Rep. 2017 Jul 18;7(1):5756. doi: 10.1038/s41598-017-05810-2.
62. Haemochromatosis (HFE) gene C282Y mutation and the risk of coronary artery disease and myocardial infarction: a study in 1279 patients undergoing coronary angiography. Surber R, etal., J Med Genet. 2003 May;40(5):e58.
63. Hereditary Hemochromatosis Associations with Frailty, Sarcopenia and Chronic Pain: Evidence from 200,975 Older UK Biobank Participants. Tamosauskaite J, etal., J Gerontol A Biol Sci Med Sci. 2019 Feb 15;74(3):337-342. doi: 10.1093/gerona/gly270.
64. The C282Y mutation of the HFE gene is not found in Chinese haemochromatotic patients: multicentre retrospective study. Tsui WM, etal., Hong Kong Med J. 2000 Jun;6(2):153-8.
65. Increased risk of acute myocardial infarction in carriers of the hemochromatosis gene Cys282Tyr mutation : a prospective cohort study in men in eastern Finland. Tuomainen TP, etal., Circulation. 1999 Sep 21;100(12):1274-9.
66. High incidence of hemochromatosis gene mutations in the myelodysplastic syndrome: the Budapest Study on 50 patients. Varkonyi J, etal., Acta Haematol. 2003;109(2):64-7.
67. HFE gene mutations in patients with acute leukemia. Viola A, etal., Leuk Lymphoma. 2006 Nov;47(11):2331-4.
68. Haemochromatosis protein is expressed on the terminal web of enterocytes in proximal small intestine of the rat. West AR, etal., Histochem Cell Biol. 2006 Mar;125(3):283-92. Epub 2005 Oct 6.
69. [Mutations of hemochromatosis gene in volunteer blood donors and Chilean porphyria cutanea tarda patients]. Wolff CF, etal., Medicina (B Aires). 2006;66(5):421-6.
70. Hepatic macrophage iron aggravates experimental alcoholic steatohepatitis. Xiong S, etal., Am J Physiol Gastrointest Liver Physiol. 2008 Sep;295(3):G512-21. doi: 10.1152/ajpgi.90327.2008. Epub 2008 Jul 3.
71. The effect of iron status on vascular health. Yunker LM, etal., Vasc Med. 2006 May;11(2):85-91.
72. The overlapping of local iron overload and HFE mutation in venous leg ulcer pathogenesis. Zamboni P, etal., Free Radic Biol Med. 2006 May 15;40(10):1869-73. Epub 2006 Feb 14.
73. Hemochromatosis C282Y gene mutation increases the risk of venous leg ulceration. Zamboni P, etal., J Vasc Surg. 2005 Aug;42(2):309-14.
74. Localization of iron metabolism-related mRNAs in rat liver indicate that HFE is expressed predominantly in hepatocytes. Zhang AS, etal., Blood 2004 Feb 15;103(4):1509-14. Epub 2003 Oct 16.
Additional References at PubMed
PMID:9465039   PMID:9546397   PMID:9990067   PMID:10077651   PMID:10638746   PMID:12704209   PMID:15131800   PMID:15489334   PMID:15880641   PMID:15914561   PMID:16893896   PMID:18353247  
PMID:21059897   PMID:21173098   PMID:22728873   PMID:22960056   PMID:24643698   PMID:24904118  


Comparative Map Data
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
mRatBN7.21741,413,451 - 41,421,502 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1741,413,451 - 41,421,502 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1741,489,877 - 41,497,957 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01743,093,927 - 43,102,007 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01741,372,593 - 41,380,657 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01743,661,276 - 43,669,327 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1743,661,222 - 43,669,985 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01745,515,737 - 45,523,531 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41748,469,927 - 48,478,502 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1X40,352,010 - 40,353,825 (-)NCBI
Celera1741,045,860 - 41,053,914 (+)NCBICelera
Cytogenetic Map17p11NCBI
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh38626,087,429 - 26,098,343 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl626,087,281 - 26,098,343 (+)EnsemblGRCh38hg38GRCh38
GRCh37626,087,657 - 26,098,571 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36626,195,427 - 26,205,038 (+)NCBINCBI36Build 36hg18NCBI36
Build 34626,195,487 - 26,202,575NCBI
Celera627,316,734 - 27,326,343 (+)NCBICelera
Cytogenetic Map6p22.2NCBI
HuRef626,030,572 - 26,038,529 (+)NCBIHuRef
CHM1_1626,089,764 - 26,097,723 (+)NCBICHM1_1
T2T-CHM13v2.0625,955,571 - 25,966,491 (+)NCBIT2T-CHM13v2.0
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
GRCm391323,886,017 - 23,894,837 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1323,886,017 - 23,894,837 (-)EnsemblGRCm39 Ensembl
GRCm381323,702,034 - 23,710,854 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1323,702,034 - 23,710,854 (-)EnsemblGRCm38mm10GRCm38
MGSCv371323,795,710 - 23,802,680 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361323,711,306 - 23,718,276 (-)NCBIMGSCv36mm8
Celera1323,935,174 - 23,942,163 (-)NCBICelera
Cytogenetic Map13A3.1NCBI
cM Map139.88NCBI
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
ChiLan1.0 EnsemblNW_004955483932,352 - 941,143 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955483933,269 - 941,070 (-)NCBIChiLan1.0ChiLan1.0
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
NHGRI_mPanPan1636,736,633 - 36,747,602 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0625,921,663 - 25,930,852 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1626,580,358 - 26,588,591 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl626,580,358 - 26,588,591 (+)Ensemblpanpan1.1panPan2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
CanFam3.13524,031,479 - 24,038,922 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3524,031,387 - 24,042,413 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3523,909,830 - 23,917,616 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03524,146,456 - 24,154,001 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3524,146,471 - 24,153,996 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13523,962,739 - 23,970,249 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03524,013,776 - 24,021,305 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03525,446,369 - 25,453,909 (+)NCBIUU_Cfam_GSD_1.0
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
HiC_Itri_2NW_0244049461,673,979 - 1,681,465 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366711,940,101 - 1,947,580 (+)EnsemblSpeTri2.0
SpeTri2.0NW_0049366711,940,079 - 1,947,574 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
Sscrofa11.1 Ensembl720,758,741 - 20,767,000 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1720,758,604 - 20,767,004 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
ChlSab1.11746,159,770 - 46,168,831 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1746,156,685 - 46,164,649 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604426,023,513 - 26,034,665 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
HetGla_female_1.0 EnsemblNW_004624756823,947 - 831,376 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624756821,738 - 831,482 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2


Variants in Hfe
20 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:373
Count of miRNA genes:162
Interacting mature miRNAs:184
Transcripts:ENSRNOT00000022809, ENSRNOT00000022810, ENSRNOT00000022881
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

QTLs in Region (mRatBN7.2)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1354658Spl8Serum phospholipid level QTL 83.8blood VLDL phospholipid amount (VT:0010507)blood very low density lipoprotein phospholipid level (CMO:0001571)17160781592Rat
1354581Bp247Blood pressure QTL 2474.5arterial blood pressure trait (VT:2000000)pulse pressure (CMO:0000292)17169599340Rat
1354662Rf49Renal function QTL 492.9blood creatinine amount (VT:0005328)plasma creatinine level (CMO:0000537)17169599340Rat
1354596Bw32Body weight QTL 324.5body mass (VT:0001259)body weight (CMO:0000012)17429913060781592Rat
1354630Cm34Cardiac mass QTL 348.7heart left ventricle mass (VT:0007031)heart left ventricle wet weight (CMO:0000071)17429913069599340Rat
1354638Insul1Insulin level QTL 14.8blood insulin amount (VT:0001560)plasma insulin level (CMO:0000342)17429913069599340Rat
1354651Lmblg2Limb length QTL 26tibia length (VT:0004357)tibia length (CMO:0000450)17429913069599340Rat
2303627Vencon8Ventilatory control QTL 80.001respiration trait (VT:0001943)tidal volume (CMO:0000222)17452803849528038Rat
10054088Scort28Serum corticosterone level QTL 282.040.0102blood corticosterone amount (VT:0005345)plasma corticosterone level (CMO:0001173)17452803849528038Rat
2303561Bw91Body weight QTL 912body mass (VT:0001259)body weight (CMO:0000012)17886846253868462Rat
1331765Hrtrt15Heart rate QTL 154.094heart pumping trait (VT:2000009)heart rate (CMO:0000002)171533061355836425Rat
1354640Scl32Serum cholesterol level QTL 325.4blood HDL cholesterol amount (VT:0000184)blood high density lipoprotein cholesterol level (CMO:0000052)171578159260781592Rat
1354659Scl68Serum cholesterol level QTL 683.9blood VLDL cholesterol amount (VT:0005144)blood very low density lipoprotein cholesterol level (CMO:0000648)171578159260781592Rat
7394837Memor18Memory QTL 18exploratory behavior trait (VT:0010471)measurement of voluntary locomotion into, out of or within a discrete space in an experimental apparatus (CMO:0000957)171864018263640182Rat
1354628Stl13Serum triglyceride level QTL 133.8blood triglyceride amount (VT:0002644)blood triglyceride level (CMO:0000118)172129303960781592Rat
70157Niddm32Non-insulin dependent diabetes mellitus QTL 324.34blood glucose amount (VT:0000188)blood glucose level area under curve (AUC) (CMO:0000350)172245492450909196Rat
61394Bp8Blood pressure QTL 82.2arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)172308056759555013Rat
7488966Bp370Blood pressure QTL 3700.001arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)172365318457246843Rat
12903978Cm118Cardiac mass QTL 1180.001heart mass (VT:0007028)heart wet weight to body weight ratio (CMO:0002408)172365318468653184Rat
12903979Cm119Cardiac mass QTL 1190.001heart left ventricle mass (VT:0007031)heart left ventricle weight to body weight ratio (CMO:0000530)172365318468653184Rat
12903980Cm120Cardiac mass QTL 1200.002heart right ventricle mass (VT:0007033)heart right ventricle weight to body weight ratio (CMO:0000914)172365318468653184Rat
12903981Am17Aortic mass QTL 170.001aorta mass (VT:0002845)aorta weight to aorta length to body weight ratio (CMO:0002722)172365318468653184Rat
1559055Bp278Blood pressure QTL 2780.04arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)172365318468653184Rat
12903982Kidm70Kidney mass QTL 700.001kidney mass (VT:0002707)both kidneys wet weight to body weight ratio (CMO:0000340)172365318470974005Rat
1354619Bp242Blood pressure QTL 2426.3arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)172459934069599340Rat
1581512Cm55Cardiac mass QTL 552.80.05heart left ventricle mass (VT:0007031)heart left ventricle weight to body weight ratio (CMO:0000530)172702794956836890Rat
4889955Bss93Bone structure and strength QTL 934.4tibia size trait (VT:0100001)tibia cortical bone volume to tibia total bone volume ratio (CMO:0001727)172702794960463643Rat
2302377Scl61Serum cholesterol level QTL 614.36blood HDL cholesterol amount (VT:0000184)serum high density lipoprotein cholesterol level (CMO:0000361)172738994653481766Rat
8552928Pigfal9Plasma insulin-like growth factor 1 level QTL 99blood insulin-like growth factor amount (VT:0010479)plasma insulin-like growth factor 1 level (CMO:0001299)172840914773409147Rat
9590107Sffal7Serum free fatty acids level QTL 74.810.001blood free fatty acid amount (VT:0001553)plasma free fatty acids level (CMO:0000546)172840914773409147Rat
10450503Bp386Blood pressure QTL 3860.28arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)173136839162109574Rat
2324621Coatc5Coat color QTL 5coat/hair pigmentation trait (VT:0010463)pigmented ventral coat/hair area to total ventral coat/hair area ratio (CMO:0001812)173136839173951021Rat
2313854Bp343Blood pressure QTL 3433.9life span trait (VT:0005372)age at time of death (CMO:0001193)173199078450909196Rat
724549Niddm56Non-insulin dependent diabetes mellitus QTL 560.03blood glucose amount (VT:0000188)blood glucose level area under curve (AUC) (CMO:0000350)173199078476990784Rat
1354663Bvd5Brain ventricular dilatation QTL 53.510.001brain ventricle morphology trait (VT:0000822)hydrocephalus severity score (CMO:0001881)173199078481292925Rat
1300148Bp192Blood pressure QTL 1923.47arterial blood pressure trait (VT:2000000)blood pressure time series experimental set point of the baroreceptor response (CMO:0002593)173455084373951021Rat
724528Uae4Urinary albumin excretion QTL 44.90.0001urine albumin amount (VT:0002871)urine albumin excretion rate (CMO:0000757)173583708569599340Rat
2301412Kidm40Kidney mass QTL 400.001kidney mass (VT:0002707)both kidneys wet weight to body weight ratio (CMO:0000340)173747984782479847Rat
2317054Aia12Adjuvant induced arthritis QTL 124.24joint integrity trait (VT:0010548)left rear ankle joint diameter (CMO:0002149)173828150983281509Rat
2317060Aia26Adjuvant induced arthritis QTL 263.22joint integrity trait (VT:0010548)right rear ankle joint diameter (CMO:0002150)173828150983281509Rat
1598871Memor5Memory QTL 55.3exploratory behavior trait (VT:0010471)total horizontal distance resulting from voluntary locomotion in an experimental apparatus (CMO:0001443)174054004180387013Rat
1358295Aocep1Aortic cell protein QTL 16.10.00000071thoracic aorta cellular protein amount (VT:0010598)aortic cell percentage174099000585990005Rat
631497Bp98Blood pressure QTL 983.66arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)174135465160463643Rat


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system appendage
Medium 23 23 23 3 9
Low 3 37 34 18 19 18 8 11 60 35 36 2 8
Below cutoff 6 12 2


RefSeq Acc Id: ENSRNOT00000022809   ⟹   ENSRNOP00000022809
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl1741,413,451 - 41,421,502 (+)Ensembl
Rnor_6.0 Ensembl1743,661,276 - 43,669,327 (+)Ensembl
RefSeq Acc Id: ENSRNOT00000022810   ⟹   ENSRNOP00000022810
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl1741,413,451 - 41,419,784 (+)Ensembl
Rnor_6.0 Ensembl1743,661,276 - 43,669,327 (+)Ensembl
RefSeq Acc Id: ENSRNOT00000022881   ⟹   ENSRNOP00000022881
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl1741,417,353 - 41,419,784 (+)Ensembl
Rnor_6.0 Ensembl1743,661,222 - 43,669,985 (+)Ensembl
RefSeq Acc Id: NM_001173434   ⟹   NP_001166905
RefSeq Status: VALIDATED
Rat AssemblyChrPosition (strand)Source
mRatBN7.21741,413,451 - 41,421,502 (+)NCBI
Rnor_6.01743,661,276 - 43,669,327 (+)NCBI
Rnor_5.01745,515,737 - 45,523,531 (+)NCBI
Celera1741,045,860 - 41,053,914 (+)NCBI
RefSeq Acc Id: NM_001173435   ⟹   NP_001166906
RefSeq Status: VALIDATED
Rat AssemblyChrPosition (strand)Source
mRatBN7.21741,413,451 - 41,421,502 (+)NCBI
Rnor_6.01743,661,276 - 43,669,327 (+)NCBI
Rnor_5.01745,515,737 - 45,523,531 (+)NCBI
Celera1741,045,860 - 41,053,914 (+)NCBI
RefSeq Acc Id: NM_053301   ⟹   NP_445753
RefSeq Status: VALIDATED
Rat AssemblyChrPosition (strand)Source
mRatBN7.21741,413,451 - 41,421,502 (+)NCBI
Rnor_6.01743,661,276 - 43,669,327 (+)NCBI
Rnor_5.01745,515,737 - 45,523,531 (+)NCBI
RGSC_v3.41748,469,927 - 48,478,502 (-)RGD
Celera1741,045,860 - 41,053,914 (+)NCBI
RefSeq Acc Id: NP_445753   ⟸   NM_053301
- Peptide Label: isoform 1 precursor
- UniProtKB: O35175 (UniProtKB/Swiss-Prot),   O35799 (UniProtKB/Swiss-Prot),   A6KLM7 (UniProtKB/TrEMBL),   A6KLM4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001166905   ⟸   NM_001173434
- Peptide Label: isoform 2 precursor
- UniProtKB: Q9R105 (UniProtKB/TrEMBL),   A6KLM8 (UniProtKB/TrEMBL),   A6KLM5 (UniProtKB/TrEMBL),   F7EZL1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001166906   ⟸   NM_001173435
- Peptide Label: isoform 3 precursor
- UniProtKB: Q9R104 (UniProtKB/TrEMBL),   A6KLM6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSRNOP00000022881   ⟸   ENSRNOT00000022881
RefSeq Acc Id: ENSRNOP00000022809   ⟸   ENSRNOT00000022809
RefSeq Acc Id: ENSRNOP00000022810   ⟸   ENSRNOT00000022810
Protein Domains
Ig-like   Ig-like C1-type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O35799-F1-model_v2 AlphaFold O35799 1-360 view protein structure


eQTL   View at Phenogen
WGCNA   View at Phenogen
Tissue/Strain Expression   View at Phenogen

Additional Information

Database Acc Id Source(s)
AGR Gene RGD:2793 AgrOrtholog
BioCyc Gene G2FUF-9378 BioCyc
Ensembl Genes ENSRNOG00000016967 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSRNOP00000022809 ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSRNOP00000022810.4 UniProtKB/TrEMBL
  ENSRNOP00000022881.3 UniProtKB/TrEMBL
Ensembl Transcript ENSRNOT00000022809 ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSRNOT00000022810.5 UniProtKB/TrEMBL
  ENSRNOT00000022881.7 UniProtKB/TrEMBL
Gene3D-CATH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.500.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
InterPro Ig-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig/MHC_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_C1-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MHC_I-like_Ag-recog UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MHC_I-like_Ag-recog_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MHC_I/II-like_Ag-recog UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MHC_I_a_a1/a2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report rno:29199 UniProtKB/Swiss-Prot
  PTHR16675:SF172 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam C1-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MHC_I UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PhenoGen Hfe PhenoGen
  IG_MHC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART IGc1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48726 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF54452 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HFE_RAT UniProtKB/Swiss-Prot
UniProt Secondary O35175 UniProtKB/Swiss-Prot
  Q9R105 UniProtKB/TrEMBL

Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-03-16 Hfe  homeostatic iron regulator  Hfe  hemochromatosis  Nomenclature updated to reflect human and mouse nomenclature 1299863 APPROVED
2002-06-10 Hfe  hemochromatosis      Name updated 70584 APPROVED

RGD Curation Notes
Note Type Note Reference
gene_domains promoter sequence contains transcription domains for GATA, NF-IL6, AP1, AP2, CREB, PEA3, gamma-IRE, GFI1, HNF-3beta and HFH2 69855