HFE - homeostatic iron regulator Gene

Also Known as HH; HFE1; HLA-H; MVCD7; TFQTL2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3077

About HFE

Cytogenetic location: 6p22.2 Genomic coordinates (GRCh38): 6:26,087,429-26,098,343 (from NCBI)

This gene has 14 transcripts (splice variants), 398 orthologues, 22 paralogues and is associated with 12 phenotypes. Ubiquitous expression in thyroid (RPKM 5.0), gall bladder (RPKM 4.6) and 24 other tissues.

Summary

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. [provided by RefSeq, May 2022]

HFE Products (13)

mRNA	Protein	Name
NM_000410.4	NP_000401.1	hereditary hemochromatosis protein isoform 1 precursor
NM_001300749.3	NP_001287678.1	hereditary hemochromatosis protein isoform 12 precursor
NM_001384164.1	NP_001371093.1	hereditary hemochromatosis protein isoform 13 precursor
NM_001406751.1	NP_001393680.1	hereditary hemochromatosis protein isoform 14 precursor
NM_001406752.1	NP_001393681.1	hereditary hemochromatosis protein isoform 15 precursor
NM_139003.3	NP_620572.1	hereditary hemochromatosis protein isoform 3 precursor
NM_139004.3	NP_620573.1	hereditary hemochromatosis protein isoform 4 precursor
NM_139006.3	NP_620575.1	hereditary hemochromatosis protein isoform 6 precursor
NM_139007.3	NP_620576.1	hereditary hemochromatosis protein isoform 7 precursor
NM_139008.3	NP_620577.1	hereditary hemochromatosis protein isoform 8 precursor
NM_139009.3	NP_620578.1	hereditary hemochromatosis protein isoform 9 precursor
NM_139010.3	NP_620579.1	hereditary hemochromatosis protein isoform 10 precursor
NM_139011.3	NP_620580.1	hereditary hemochromatosis protein isoform 11 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables beta-2-microglobulin binding	IPI IPI: Inferred from physical interaction	9465039	GOA
enables co-receptor binding	IPI IPI: Inferred from physical interaction	22728873	GOA
NOT enables peptide antigen binding	IDA IDA: Inferred from direct assay	9546397	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	14691533	GOA
enables signaling receptor binding	IPI IPI: Inferred from physical interaction	10638746	GOA
enables transferrin receptor binding	IPI IPI: Inferred from physical interaction	9465039	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in BMP signaling pathway	IDA IDA: Inferred from direct assay	24904118	GOA
involved in cellular response to iron ion	IGI IGI: Inferred from genetic interaction	18353247	GOA
involved in intracellular iron ion homeostasis	IDA IDA: Inferred from direct assay	10085150	GOA
involved in multicellular organismal-level iron ion homeostasis	IMP IMP: Inferred from mutant phenotype	21173098	GOA
involved in negative regulation of CD8-positive, alpha-beta T cell activation	IGI IGI: Inferred from genetic interaction	24643698	GOA
involved in negative regulation of T cell cytokine production	IGI IGI: Inferred from genetic interaction	24643698	GOA
involved in negative regulation of antigen processing and presentation of endogenous peptide antigen via MHC class I	IGI IGI: Inferred from genetic interaction	24643698	GOA
involved in negative regulation of proteasomal ubiquitin-dependent protein catabolic process	IDA IDA: Inferred from direct assay	24904118	GOA
involved in negative regulation of receptor binding	IDA IDA: Inferred from direct assay	9465039	GOA
involved in negative regulation of signaling receptor activity	IDA IDA: Inferred from direct assay	9465039	GOA
involved in negative regulation of ubiquitin-dependent protein catabolic process	IDA IDA: Inferred from direct assay	24904118	GOA
involved in positive regulation of SMAD protein signal transduction	IDA IDA: Inferred from direct assay	24904118	GOA
involved in positive regulation of ferrous iron binding	IGI IGI: Inferred from genetic interaction	18353247	GOA
involved in positive regulation of peptide hormone secretion	IMP IMP: Inferred from mutant phenotype	21173098	GOA
involved in positive regulation of protein binding	IGI IGI: Inferred from genetic interaction	18353247	GOA
involved in positive regulation of receptor binding	IGI IGI: Inferred from genetic interaction	18353247	GOA
involved in positive regulation of receptor-mediated endocytosis	IGI IGI: Inferred from genetic interaction	18353247	GOA
involved in positive regulation of signaling receptor activity	IGI IGI: Inferred from genetic interaction	18353247	GOA
involved in positive regulation of transferrin receptor binding	IGI IGI: Inferred from genetic interaction	18353247	GOA
involved in regulation of iron ion transport	IGI IGI: Inferred from genetic interaction	18353247	GOA
involved in regulation of protein localization to cell surface	IMP IMP: Inferred from mutant phenotype	12704209	GOA
involved in response to iron ion	IMP IMP: Inferred from mutant phenotype	21173098	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of HFE-transferrin receptor complex	IDA IDA: Inferred from direct assay	9465039	GOA
NOT part of MHC class I protein complex	IDA IDA: Inferred from direct assay	9546397	GOA
located in apical part of cell	IDA IDA: Inferred from direct assay	15880641	GOA
located in basal part of cell	IDA IDA: Inferred from direct assay	15880641	GOA
located in cytoplasmic vesicle	IDA IDA: Inferred from direct assay	12704209	GOA
located in early endosome	IDA IDA: Inferred from direct assay	15880641	GOA
located in external side of plasma membrane	IDA IDA: Inferred from direct assay	24904118	GOA
located in extracellular space	IDA IDA: Inferred from direct assay	21173098	GOA
located in perinuclear region of cytoplasm	IDA IDA: Inferred from direct assay	9990067	GOA
located in recycling endosome	IDA IDA: Inferred from direct assay	15880641	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

HFE Protein Structure

MHC_I

C1-set

0
100
200
300
348 a.a.

Protein Preferred Names	Protein Names
hereditary hemochromatosis protein	MHC class I-like protein HFE

HFE Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	HFE	Q30201	TFRC	Homo sapiens	P02786	Anti Tag CoIP	15965644
Intra	HFE	Q30201	TFRC	Homo sapiens	P02786	Anti Bait CoIP	15965644
Intra	HFE	Q30201	B2M	Homo sapiens	P61769	Anti Tag CoIP	15965644

Cross: Cross-species interaction Intra: Intraspecies interaction

HFE Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P85199	HFE Antibody (YA4891)	WB, ICC/IF, ELISA	Human

Related Diseases

Diseases	Alias
Hemochromatosis, Type 1	Hemochromatosis Hemochromatosis Type 1 Hereditary Hemochromatosis Hh HFE1 Hfe Hemochromatosis, Modifier Of Symptomatic Form Of Classic Hemochromatosis Symptomatic Form Of Hemochromatosis Type 1 Symptomatic Form Of Hfe-Related Hereditary Hemochromatosis Haemochromatosis Iron Storage Disorder Bronze Diabetes Hereditary Haemochromatosis Hlah Hfe Hemochromatosis, Hereditary Diabetes Bronze Classic Hemochromatosis Hfe-Associated Hereditary Hemochromatosis Hemochromatosis Classic Bronzed Cirrhosis Familial Hemochromatosis Genetic Hemochromatosis Hc Pigmentary Cirrhosis Primary Hemochromatosis Troisier-Hanot-Chauffard Syndrome Von Recklenhausen-Applebaum Disease Hemochromatosis 1 Primary Hereditary Hemochromatosis Bronze Cirrhosis
Microvascular Complications Of Diabetes 7	Microvascular Complications Of Diabetes, Susceptibility To, 7 MVCD7 Diabetic Nephropathy Proliferative Retinopathy, Diabetic Proliferative Retinopathy, Diabetic, Susceptibility To Nonproliferative Retinopathy, Diabetic Nonproliferative Retinopathy, Diabetic, Susceptibility To Nephropathy, Diabetic Nephropathy, Diabetic, Susceptibility To Diabetic Non-Proliferative Retinopathy Diabetic Proliferative Retinopathy Microvascular Complications Of Diabetes, Type 7 Proliferative Diabetic Retinopathy
Transferrin Serum Level Quantitative Trait Locus 2	TFQTL2 Transferrin Serum Level Qtl2
Variegate Porphyria	Porphyria Variegata Protoporphyrinogen Oxidase Deficiency VP Ppox Deficiency Porphyria, South African Type Porphyria Variegata, Susceptibility To Protocoproporphyria Porphyria Variegate Porphyria South African Type Pv Porphyria, Variegate Vp - [Variegate Porphyria]
Porphyria Cutanea Tarda	Hepatoerythropoietic Porphyria HEP Uroporphyrinogen Decarboxylase Deficiency Pct Pct, Type Ii Porphyria, Hepatocutaneous Type Urod Deficiency Porphyria, Hepatoerythropoietic Porphyria Cutanea Tarda, Susceptibility To Familial Porphyria Cutanea Tarda Porphyria Cutanea Tarda, Type Ii Pct, 'Familial' Type Porphyria, Hepatic FPCT Pct Type Ii Porphyria Cutanea Tarda Type Ii Porphyria Hepatocutaneous Type Heterozygous Uroporphyrinogen Decarboxylase Deficiency Urod - [Uroporphyrinogen Decarboxylase] Deficiency Pct - [Porphyria Cutanea Tarda]
Alzheimer Disease, Familial, 1	Alzheimer Disease Alzheimer'S Disease Presenile And Senile Dementia AD1 Alzheimer Disease, Susceptibility To Alzheimer Disease, Late-Onset, Susceptibility To Alzheimer Disease 1, Familial AD Familial Alzheimer Disease Alzheimer Disease, Late-Onset Alzheimers Dementia Alzheimer Dementia Alzheimer Sclerosis Alzheimer Syndrome Alzheimer-Type Dementia Dat Primary Senile Degenerative Dementia Sdat Alzheimer Disease 1 Autosomal Dominant Alzheimer Disease Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy Late Onset Alzheimer Disease Alzheimers Disease Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy Late-Onset Alzheimers Disease Alzheimer'S Disease Pathway Kegg Dementia Due To Alzheimer'S Disease Alzheimer Disease Type 1 Alzheimers
Paine Syndrome	Pain Disorder Pain Microcephaly With Spastic Diplegia Pain Syndrome
Familial Porphyria Cutanea Tarda	Familial Pct F-Pct Porphyria Cutanea Tarda, Type Ii Type Ii Pct Urod-Related Porphyria Cutanea Tarda Porphyria Cutanea Tarda Type Ii Porphyria Cutanea Tarda, Familial Type Porphyria Cutanea Tarda
Peripheral Nervous System Disease	Peripheral Neuropathy Peripheral Nerve Disease Peripheral Nerve Disorders Neuropathy, Peripheral Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
Alzheimer'S Disease 1	Alzheimer Disease Type 1 Alzheimer'S Disease 1, Early Onset
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
Inherited Cancer-Predisposing Syndrome	Hereditary Cancer-Predisposing Syndrome
Bap1 Tumor Predisposition Syndrome	Bap1-Related Tumor Predisposition Syndrome Common Syndrome Bap1 Cancer Syndrome Bap1-Tpds Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, And Other Internal Neoplasms Tumor Predisposition Syndrome Tumor Susceptibility Linked To Germline Bap1 Mutations Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, Other Internal Neoplasms Tumor Predisposition
Iron Metabolism Disease	Iron Deficiency Iron Disorder Iron Metabolism Disorders Disorder Of Iron Metabolism Iron Fe Deficiency Iron Storage Disease Iron Storage Disorder
Hemochromatosis Type 2	Juvenile Hemochromatosis Juvenile Hereditary Hemochromatosis Hfe2 Jhh Hemochromatosis Juvenile Iron Overload Disease Juvenile Hemochromatosis, Juvenile Hemochromatosis, Type 2 Hemochromatosis Hemochromatosis, Type 1
Siderosis	Pulmonary Siderosis Deposition Of Iron Arc-Welders' Disease Arc-Welders' Lung Arc-Welders' Nodulation Arc-Welders' Pneumoconiosis Iron Oxide Lung Iron Pneumoconiosis Pneumoconiosis Siderotico Siderotic Lung Disease Steel Grinders' Disease Welders' Lung Welders' Siderosis Lung Fibrosis With Siderosis
Porphyria Cutanea Tarda, Type I	Sporadic Porphyria Cutanea Tarda Pct, Type I Pct, 'Sporadic' Type Porphyria Cutanea Tarda Type I Porphyria Cutanea Tarda, Sporadic Type
Cystic Fibrosis	Mucoviscidosis CF Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis Cystic Fibrosis Lung Disease, Modifier Of Cystic Fibrosis Of Pancreas Fibrocystic Disease Of Pancreas Cf - [Cystic Fibrosis] Cystic Fibrosis Nos Fibrocystic Disease Fibrocystic Disease Of The Pancreas Mucoviscidosis Of Pancreas Nonproliferative Fibrocystic Disease Pancreatic Cystic Fibrosis
Arthropathy	Ankylosis Of Ankle And Foot Joint Ankylosis Of Forearm Joint Ankylosis Of Hand Joint Ankylosis Of Joint Of Ankle And/Or Foot Ankylosis Of Joint Of Forearm Ankylosis Of Joint Of Hand Ankylosis Of Joint Of Lower Leg Ankylosis Of Joint Of Multiple Sites Ankylosis Of Joint Of Pelvic Region And Thigh Ankylosis Of Joint Of Shoulder Region Ankylosis Of Joint Of Upper Arm Ankylosis Of Lower Leg Joint Ankylosis Of Multiple Joints Ankylosis Of Upper Arm Joint Infectious Arthropathy Joint Ankylosis Of The Ankle And Foot Joint Ankylosis Of The Ankle And/Or Foot Joint Ankylosis Of The Forearm Joint Ankylosis Of The Hand Joint Ankylosis Of The Lower Leg Joint Ankylosis Of The Pelvic Region And Thigh Joint Ankylosis Of The Shoulder Region Joint Ankylosis Of The Upper Arm Joint Diseases Joint Disease Arthropathy Associated With Infection
Breast Cancer	Breast Carcinoma Male Breast Cancer Breast Cancer, Familial Malignant Neoplasm Of Breast Breast Cancer, Susceptibility To Breast Cancer, Early-Onset Malignant Tumor Of Breast Carcinoma Of Male Breast Breast Cancer, Invasive Ductal Breast Cancer, Protection Against Breast Cancer, Somatic Breast Cancer, Male Breast Cancer, Lobular, Somatic Breast Tumor Mammary Cancer Mammary Tumor Malignant Neoplasm Of Male Breast Mammary Carcinoma Male Breast Carcinoma Familial Cancer Of Breast Invasive Ductal Breast Carcinoma Breast Cancer Susceptibility Breast Cancer, Male, Susceptibility To Breast Cancer, Early-Onset, Susceptibility To Malignant Tumor Of The Breast Mammary Neoplasm Primary Breast Cancer Neoplasm Of Male Breast Carcinoma Of Breast Breast Cancer In Men Familial Breast Cancer Cancer Of Breast BC Breast Cancer Familial Breast Cancer Familial Male Breast Cancer, Familial Male Breast Male Carcinoma Breast Neoplasms Breast Neoplasms, Male Mammary Tumors Mammary Carcinomas Cancer, Breast Cancer, Breast, Susceptibility Invasive Breast Ductal Carcinoma Breast Neoplasm Susceptibility To Breast Cancer Mammary Neoplasms Animal Mammary Neoplasms Primary Malignant Neoplasm Of Breast Infiltrating Ductal Carcinoma Of Breast Infiltrating Duct Carcinoma Of Unspecified Site Infiltrating Ductular Carcinoma Of Unspecified Site Invasive Breast Carcinoma Of No Special Type Microinvasive Carcinoma Of Breast Carcinoma With Apocrine Differentiation
Hemochromatosis, Type 3	Hemochromatosis Type 3 HFE3 Hemochromatosis Due To Defect In Transferrin Receptor 2 Tfr2-Related Hemochromatosis Tfr2-Related Hereditary Hemochromatosis Hemochromatosis 3
Iron Overload In Africa	African Iron Overload Bantu Siderosis African Hemochromatosis Hereditary Iron Overload And African Americans African Nutritional Hemochromatosis African Siderosis
Rare Hereditary Hemochromatosis	Iron Overload Iron Overload Disease Idiopathic Haemosiderosis Hemosiderosis
Porphyria	Hematoporphyria Porphyrias Disorder Of Porphyrin And Hem Metabolism Disorder Of Porphyrin Metabolism Porphyrinopathy Porphyrin Disorder Disorder Of Porphyrin And Heme Metabolism Disorders Of Porphyrin Metabolism
Hyperferritinemia With Or Without Cataract	Hyperferritinemia-Cataract Syndrome Hhcs Hereditary Hyperferritinemia With Congenital Cataracts Hyperferritinemia, Hereditary, With Congenital Cataracts Bonneau-Beaumont Syndrome HRFTC Hereditary Hyperferritinemia-Cataract Syndrome Cataract-Hyperferritinemia Syndrome Hyperferritinemia Cataract Syndrome Hereditary Hyperferritinemia Cataract Syndrome
Metal Metabolism Disorder	Metal Metabolism, Inborn Errors Inborn Metal Metabolism Disorder
Liver Cirrhosis	Cirrhosis Cirrhosis Of Liver CIRRH Cryptogenic Cirrhosis Cirrhosis, Cryptogenic Cirrhosis Nos
Beta-Thalassemia	Beta Thalassemia Cooley'S Anemia Mediterranean Anemia Beta Thalassemia Intermedia Erythroblastic Anemia Thalassemia, Hispanic Gamma-Delta-Beta Thalassemia Major Thalassemia Minor Beta-Plus-Thalassemia Thalassemia, Beta Beta Thalassemia Major Beta Thalassemia Minor Thalassemias, Beta- Microcytemia, Beta Type Thalassemia, Beta Type B-THAL Mediterranean Anaemia Beta Thalassaemia Syndrome Mediterranean Disease Beta Thalassaemia Disease
Hfe Hemochromatosis	Hemochromatosis Type 1 Hfe-Associated Hemochromatosis Hfe-Hh
Iron Deficiency Anemia	Iron-Deficiency Anemia Fe Deficiency Anaemia Ida - [Iron Deficiency Anemia] Fe - [Iron] Deficiency Anemia Nos
Chondrocalcinosis	Pseudogout Calcium Pyrophosphate Deposition Disease Familial Chondrocalcinosis Chondrocalcinosis Nos Cppd - [Calcium Pyrophosphate Deposition Disease] Cpdd - [Calcium Pyrophosphate Deposition Disease] Chondrocalcinosis, Due To Pyrophosphate Crystals, Involving Unspecified Site Chondrocalcinosis, Cause Unspecified Chondrocalcinosis Due To Pyrophosphate Crystals Chondrocalcinosis Articularis Calcium Pyrophosphate Arthritis And Periarthritis
Wilson Disease	Hepatolenticular Degeneration WD Wilson'S Disease WND Westphal-Strumpell Syndrome Copper Storage Disease Cerebral Pseudosclerosis Westphal Pseudosclerosis Hepatolenticular Degeneration Syndrome Copper Retention Hepatocerebral Degeneration Kinnier-Wilson Disease Neurohepatic Degeneration Progressive Hepatolenticular Degeneration Lenticular Degenerative Disease Wilson'S Syndrome Lenticular Syndrome
Hemosiderosis	Haemosiderosis Iron Overload
Hepatitis C	Chronic Hepatitis C Hepatitis C Infection Hepatitis Nona Nonb Nanbh Viral Hepatitis C Hepatitis C Chronic Hepatitis C, Chronic Chronic Type C Viral Hepatitis Chronic Hcv - [Hepatitis C Virus] Infection Hepatitis C Nos Hepatitis C Infection Nos Hepatitis C-Related Cirrhosis Type C Viral Hepatitis Hep C Nos
Viral Hepatitis	Animal Viral Hepatitis Hepatitis, Viral, Animal Human Viral Hepatitis Viral Hepatitis With Hepatic Coma
Hereditary Spherocytosis	Congenital Spherocytic Hemolytic Anemia Spherocytic Anemia Congenital Spherocytosis Spherocytosis, Type 1 Minkowski Chauffard Syndrome Hs Minkowski-Chauffard Disease Minkowski-Chauffard Syndrome Spherocytosis Hereditary Spherocytosis, Hereditary Anemia, Hereditary Spherocytic Hemolytic
Thalassemia	Sickle-Cell Thalassemia With Crisis Sickle-Cell Thalassemia Without Crisis Thalassemia Hb-S Disease With Crisis Thalassemia Hb-S Disease Without Crisis Thalassemias Hereditary Leptocytosis Haemoglobin Thalassaemia Disorder Thalassaemia Syndrome Thalassaemia Nos Thalassemia Variants
End Stage Renal Disease	End Stage Renal Failure End-Stage Kidney Disease Kidney Failure, Chronic Chronic Kidney Disease Stage 5
Alpha-1-Antitrypsin Deficiency	Alpha 1-Antitrypsin Deficiency Alpha-1 Antitrypsin Deficiency Aat Deficiency Aatd A1ATD Emphysema Due To Aat Deficiency A1at Deficiency Emphysema-Cirrhosis, Due To Aat Deficiency Hemorrhagic Diathesis Due To Antithrombin Pittsburgh Alpha-1 Antiprotease Deficiency Alpha 1 Antitrypsin Deficiency Aat Alpha-1 Protease Inhibitor Deficiency Alpha-1 Related Emphysema Genetic Emphysema Hereditary Pulmonary Emphysema Inherited Emphysema Alpha-1-Proteinase Inhibitor Deficiency Alpha1-Antitrypsin Deficiency Alpha-1-Antitrypsin Deficiency, Autosomal Recessive Emphysema, Hereditary Pulmonary Aatd - [Alpha-1-Antitrypsin] Deficiency
Liver Disease	Liver Failure Liver Diseases Abnormality Of The Liver Liver Dysfunction Disorder Of Liver Hepatic Disorder Hepatic Disease Disease Of Bilirubin Metabolism Disorder Of Bilirubin Metabolism Liver Decompensation Liver Function Failure Hepatic Failure Nos Liver Failure Nos End Stage Liver Disease Decompensated Liver Failure Decompensation Of Liver Function Hepatic Decompensation Hepatic Insufficiency Liver Cell Necrosis With Hepatic Failure Liver Insufficiency Decompensated Liver Disease End Stage Liver Failure Liver Necrosis With Hepatic Failure
Acute Myocardial Infarction	Cardiac Attack Heart Attack
Hemochromatosis, Type 2b	Hemochromatosis Type 2b HFE2B Hemochromatosis 2b
Congenital Dyserythropoietic Anemia	Congenital Dyshaematopoietic Anaemia Dyserythropoietic Anemia, Congenital Cda Anemia, Dyserythropoietic, Congenital Anemia Dyserythropoietic Congenital Cda - [Congenital Dyserythropoietic Anaemia] Dyserythropoietic Dyshaematopoietic Congenital Anaemia Dyshaematopoietic Anaemia Dyserythropoietic Anaemia
Hepatic Veno-Occlusive Disease	Veno-Occlusive Disease Sinusoidal Obstruction Syndrome Hepatic Venoocclusive Disease Venoocclusive Disease Hepatic Vein Thrombosis Budd-Chiari Syndrome Hepatic Vein Occlusion Veno-Occlusive Disease Of The Liver
Hemochromatosis, Type 4	Hemochromatosis Type 4 Hemochromatosis Due To Defect In Ferroportin HFE4 Hemochromatosis, Autosomal Dominant Autosomal Dominant Hereditary Hemochromatosis Ferroportin Disease Hemochromatosis 4 Hemochromatosis Autosomal Dominant
Myocardial Infarction	Heart Attack Myocardial Infarction, Susceptibility To Myocardial Infarction 1 Myocardial Infarction, Protection Against Myocardial Infarction, Decreased Susceptibility To Myocardial Infarction, Decreased Myocardial Infarct MCI1 Premature Myocardial Infarction Myocardial Infarction, Susceptibility To, Type 1
Non-Alcoholic Fatty Liver Disease	Fatty Liver Non-Alcoholic Fatty Liver Nafld Nonalcoholic Fatty Liver Disease Nonalcoholic Steatohepatitis Steatosis Nafl Nash Non-Alcoholic Steatohepatitis Susceptibility To Nonalcoholic Fatty Liver Disease Steatohepatitis Fatty Degeneration Non-Alcoholic Fatty Liver Disease Without Mention Of Non-Alcoholic Steatohepatitis Nafld Without Nash Nafld Without Mention Of Nash
Deficiency Anemia	Anemia Deficiency Anemias Anaemia
Arthritis	Inflammatory Joint Disease Inflammatory Disorder Of Joint
Diabetes Mellitus	Diabetes
Atransferrinemia	Familial Hypotransferrinemia Congenital Atransferrinemia Hypotransferrinemia, Familial Congenital Hypotransferrinemia ATRAF
Sideroblastic Anemia	Anemia Sideroblastic Anemia, Sideroblastic Anemia, Hypochromic With Iron Loading
Alcohol Use Disorder	Alcohol Abuse Alcoholism Ethanol Abuse Alcohol Addiction Alcohol Dependence Alcoholic Intoxication, Chronic Alcohol-Related Disorders
Hemochromatosis, Type 5	Hemochromatosis Type 5 HFE5 Fth1-Related Iron Overload Iron Overload, Autosomal Dominant Fth1-Associated Iron Overload Hemochromatosis 5 Autosomal Dominant Iron Overload
Friedreich Ataxia	Friedreich Ataxia 1 FRDA Friedreich Ataxia With Retained Reflexes Frda1 Fa Friedreich'S Ataxia Hereditary Spinal Ataxia Fa1 Friedreich'S Tabes Hereditary Spinal Sclerosis Spinocerebellar Ataxia, Friedreich Friedreich Spinocerebellar Ataxia Friedrich'S Ataxia
Acute Porphyria	Porphyrias, Hepatic Hepatic Porphyria Porphyria Hepatic Acute Intermittent Porphyria
Beta-Thalassemia Major	Cooley'S Anemia Cooley Anemia Mediterranean Anemia
Varicose Veins	Varices Varix Venous Ectasia Venous Varices Varicosity
Hypertrichosis
Anemia, Sideroblastic, 1	Xlsa X-Linked Sideroblastic Anemia Hypochromic Anemia Anh1 Hereditary Iron-Loading Anemia Anemia, Sideroblastic, X-Linked Anemia, Hereditary Sideroblastic Erythroid 5-Aminolevulinate Synthase Deficiency Hereditary Sideroblastic Anemia SIDBA1 Anemia, Hypochromic Sideroblastic Anemia 1 Anemia Hypochromic X Chromosome-Linked Sideroblastic Anemia Sideroblastic Anaemia 1 X-Linked Sideroblastic Anaemia Anemia Hereditary Sideroblastic Anemia Sex-Linked Hypochromic Sideroblastic Congenital Sideroblastic Anemia Sideroblastic Anemia X-Linked Anemia, Sex-Linked Hypochromic Sideroblastic Congenital Sideroblastic Anaemia X-Linked Pyridoxine-Responsive Sideroblastic Anemia Anemia Congenital Sideroblastic Anemia, Sideroblastic, Type 1 Sex-Linked Hypochromic Sideroblastic Anaemia Autosomal Recessive Sideroblastic Anaemia Familial Sex Linked Hypochromic Anaemia
Hypogonadotropic Hypogonadism	Klinefelter Syndrome Klinefelter'S Syndrome Xxy Syndrome Xxy Trisomy Hypogonadotropism 47, Xxy Congenital Idiopathic Hypogonadotropic Hypogonadism Isolated Congenital Gonadotropin Deficiency 47,Xxy Syndrome 47, Xxy Syndrome Klinefelters Syndrome Hypogonadism Klinefelter Syndrome In Males Klinefelter Syndrome, Unspecified Klinefelter Syndrome Karyotype 47, Xxy
Alcoholic Liver Cirrhosis	Alcoholic Cirrhosis Portal Cirrhosis Alcoholic Cirrhosis Of Liver Liver Cirrhosis, Alcoholic Laennec'S Cirrhosis Laennec'S Cirrhosis, Alcoholic Alcohol Cirrhosis Alcoholic Laennec Cirrhosis Alcoholic Cirrhosis Nos Etoh Cirrhosis Alcohol Hepatic Cirrhosis Alcohol Liver Cirrhosis Laennec Cirrhosis
Cutaneous Porphyria	Porphyria, Erythropoietic Erythropoietic Porphyria
Parkinson Disease 8, Autosomal Dominant	Parkinson Disease 8 Autosomal Dominant Parkinson Disease 8 PARK8 Parkinson'S Disease 8 Autosomal Dominant Parkinson'S Disease 8 Parkinson Disease-8 Parkinson Disease, Type 8, Autosomal Dominant
Hemoglobinopathy	Hemoglobinopathies
Celiac Disease 1	Celiac Disease Coeliac Disease Celiac Sprue Celiac Disease, Susceptibility To Gluten-Sensitive Enteropathy Nontropical Sprue Sprue CELIAC1 Celiac Disease, Susceptibility To, 1 Celiac Sprue 1 Celiac Sprue, Susceptibility To, 1 Gluten-Sensitive Enteropathy 1 Gluten-Sensitive Enteropathy, Susceptibility To, 1 Idiopathic Steatorrhea Cœliac Disease Gluten Intolerance Gluten-Induced Enteropathy Gluten Enteropathy Celiac Disease, Susceptibility To, Type 1 Childhood Celiac Disease Coeliac Rickets Gee Disease Gee-Herter Disease Heubner-Herter Disease Idiopathic Steatorrhoea Thaysen'S Disease Herter Gee Syndrome
Myelodysplastic Syndrome	Myelodysplastic Syndromes Myelodysplasia MDS Myelodysplastic Syndrome Included Myelodysplastic Syndrome, Susceptibility To, Included Myelodysplastic Syndrome, Somatic Myelodysplastic Syndrome, Susceptibility To
Beta-Thalassemia Intermedia
Heart Disease	Heart Failure Congenital Heart Disease Heart Diseases Congenital Heart Defects Congenital Heart Defect Heart Malformation Congenital Anomaly Of Heart Heart Defect Heart-Congenital Defect Congenital Heart Disorder Heart Defects Congenital Heart Defects, Congenital Heart Defects Heart Disease, Congenital Disease, Heart, Congenital Congestive Heart Failure
Diabetic Neuropathy	Diabetic Neuropathies
Coproporphyria, Hereditary	Hereditary Coproporphyria Coproporphyria Coproporphyrinogen Oxidase Deficiency HCP Cpo Deficiency Cpox Deficiency Cpx Deficiency Hereditary Coproporphyria Porphyria Cpro Deficiency Coproporphyria Hereditary Porphyria Hepatica Ii Porphyria Hepatica Coproporphyria Porphyria, Hereditary Coproporphyria Harderoporphyria
Type 2 Diabetes Mellitus	Insulin Resistance NIDDM Type 2 Diabetes Diabetes Mellitus, Non-Insulin-Dependent T2D Noninsulin-Dependent Diabetes Mellitus Diabetes Mellitus, Type Ii Maturity-Onset Diabetes Insulin Resistance, Severe, Digenic Diabetes Mellitus, Type 2 Diabetes Mellitus, Noninsulin-Dependent Diabetes Mellitus, Noninsulin-Dependent, Association With Diabetes Mellitus, Noninsulin-Dependent, Late Onset Hypertension, Insulin Resistance-Related, Susceptibility To Insulin Resistance, Susceptibility To Non-Insulin-Dependent Diabetes Mellitus Type Ii Diabetes Mellitus Adult-Onset Diabetes Mellitus Maturity-Onset Diabetes Mellitus Diabetes Mellitus Type 2 Type Ii Diabetes Type 2 Diabetes Mellitus, Susceptibility To Diabetes, Type 2 Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To Diabetes Mellitus, Type 2, Susceptibility To Diabetes Mellitus, Noninsulin-Dependent, 2 Diabetes Mellitus, Type Ii, Susceptibility To Hypertension, Insulin Resistance-Related Adult-Onset Diabetes Aodm Diabetes Mellitus, Adult-Onset Diabetes Mellitus Type Ii Diabetes Mellitus Type 2, Susceptibility To Diabetes, Type Ii, Susceptibility To Diabetes Type 2 Diabetes Mellitus Adult Onset Diabetes Maturity Onset Diabetes Nonketotic Diabetes Non-Insulin Dependent Diabetes Mellitus T2dm - [Type 2 Diabetes Mellitus] Niddm - [Non Insulin Dependent Diabetes Mellitus] Dm2 Dm Type Ii Diabetic Type 2 Insulin Requiring Type 2 Diabetes Noninsulin Dependent Diabetes Non-Insulin-Dependent Diabetes Mellitus Without Complications Diabetes Due To Insulin Secretory Defect Diabetes Mellitus Due To Insulin Secretory Defect Non-Insulin-Dependent Diabetes Of The Young Senile Diabetes Nonketotic Hyperglycaemia Stable Diabetes
Hepatocellular Carcinoma	Liver Cancer Primary Liver Cancer HCC Hepatoma Malignant Neoplasm Of Liver Liver Neoplasms Cancer, Hepatocellular Liver Cell Carcinoma Lcc Hepatoblastoma, Somatic Hepatic Cancer Primary Malignant Neoplasm Of Liver Rare Tumor Of Liver And Intrahepatic Biliary Tract Hepatocellular Carcinoma, Somatic Hepatocellular Carcinoma, Childhood Type, Somatic Hepatocellular Cancer, Somatic Ca Liver - Primary Hepatic Neoplasm Malignant Hepato-Biliary Neoplasm Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary Malignant Neoplasm Of Liver, Primary Malignant Tumor Of Liver Neoplasm Of Liver Non-Resectable Primary Hepatic Malignant Neoplasm Resectable Malignant Neoplasm Of Liver Resectable Malignant Neoplasm Of The Liver Primary Liver Carcinoma Primary Malignant Liver Neoplasm Primary Cancer Of Liver Primary Tumor Of The Liver Rare Tumor Of Liver And Ibt Hepatocellular Cancer Neoplasm Of The Liver Carcinoma, Hepatocellular Hepatomas Liver Neoplasm Liver Carcinoma Liver And Intrahepatic Biliary Tract Carcinoma Malignant Hepatobiliary Neoplasm Adult Primary Hepatocellular Carcinoma Hepatoblastoma Carcinoma Of Liver Malignant Liver Tumour Malignant Hepatic Tumour
Hemolytic Anemia	Anemia, Hemolytic Anemia Hemolytic Anaemia Due To Other Disorders Of Glutathione Metabolism Chronic Non Spherocytic Anaemia G6pd - [Glucose-6-Phosphate Dehydrogenase Deficiency] Anaemia Anaemia Due To Glucose-6-Phosphate Dehydrogenase Deficiency Glucose-6-Phosphate Dehydrogenase Deficiency With Anaemia Glucose-6-Phosphate Dehydrogenase Deficiency Anaemia Favism Anaemia Haemolytic Anaemia Due Tog6pd Deficiency Favism Pentose Phosphate Pathway Disorder Anaemia Anaemia Due To Pentose Phosphate Pathway Defect
Microcytic Anemia	Iron-Refractory Iron Deficiency Anemia
Alpha-Thalassemia	Alpha Thalassemia Alpha Thalassaemia Alpha Plus Thalassemia Thalassemia, Alpha- Thalassemias, Alpha- A-Thalassemia Α-Thalassemia A-THAL Thalassemia Alpha Thalassaemia Syndrome
Common Variable Immunodeficiency	Cvid Common Variable Agammaglobulinemia Common Variable Immune Deficiency Acquired Hypogammaglobulinemia Hypogamma-Globulinemia, Acquired Idiopathic Immunoglobulin Deficiency Primary Antibody Deficiency Primary Hypogammaglobulinemia Acquired Agammaglobulinemia Sporadic Hypogammaglobulinemia Common Variable Hypogamma-Globulinemia Immunoglobulin Deficiency, Late-Onset Common Variable Hypogammaglobulinemia Immunodeficiency, Common Variable
Chronic Congestive Splenomegaly
Mineral Metabolism Disease	Mineral Metabolism Disorder Disorder Of Mineral Metabolism
Aceruloplasminemia	Cerebellar Ataxia Hypoceruloplasminemia Hemosiderosis, Systemic, Due To Aceruloplasminemia Familial Apoceruloplasmin Deficiency Hereditary Ceruloplasmin Deficiency Deficiency Of Ferroxidase Hypoceruloplasminemia, Hereditary Ceruloplasmin Deficiency Systemic Hemosiderosis Due To Aceruloplasminemia ACERULOP
Gilbert Syndrome	Gilbert Disease Gilbert'S Disease Gilbert'S Syndrome Cholemia, Familial Familial Nonhemolytic Jaundice Meulengracht Syndrome Gilbert Syndrome, Susceptibility To Hyperbilirubinemia, Gilbert Type Hblrg Hyperbilirubinemia, Arias Type Hyperbilirubinemia I Constitutional Hyperbilirubinemia Gilbert-Meulengracht Syndrome Hereditary Nonhemolytic Jaundice Hyperbilirubinemia Arias Type Hyperbilirubinemia Type 1 Constitutional Liver Dysfunction Gilbert-Lereboullet Syndrome Hyperbilirubinemia 1 Unconjugated Benign Bilirubinemia GILBS Gilberts Syndrome Familial Nonhaemolytic Jaundice Constitutional Hyperbilirubinaemia Hereditary Nonhaemolytic Bilirubinaemia Familial Nonhaemolytic Bilirubinaemia Idiopathic Hyperbilirubinaemia Icterus Intermittens Juvenilis Chronic Intermittent Juvenile Jaundice Low-Grade Chronic Hyperbilirubinaemia Syndrome Benign Unconjugated Bilirubinaemia Syndrome Hereditary Nonhaemolytic Jaundice Idiopathic Unconjugated Hyperbilirubinaemia Gilbert--Lereboullet Syndrome Constitutional Hepatic Dysfunction Meulengracht Icterus Cholaemia Familiaris Simplex Familial Cholaemia Congenital Familial Cholaemia Physiologic Cholaemia Hyperbilirubinaemia Type 1 Gilbert Cholaemia
Autosomal Dominant Beta Thalassemia	Inclusion Body Beta-Thalassemia
Cataract	Cataracts Cat - [Cataract] Cataract Form Lens Opacity Lens Opacities
Neurodegeneration With Brain Iron Accumulation	Nbia Neurodegeneration With Brain Iron Accumulation Disorders Neurodegeneration, With Brain Iron Accumulation
Body Mass Index Quantitative Trait Locus 11	OBESITY Obesity, Susceptibility To Leanness, Inherited Obesity, Susceptibility To, Bmiq11 Obesity, Mild, Early-Onset Obesity, Association With Obesity, Early-Onset, Susceptibility To Obesity, Severe Obesity, Severe, And Type Ii Diabetes Obesity, Late-Onset Obesity , Susceptibility To BMIQ11 Obesity Bmiq11 Obesity, Early-Onset Simple Obesity Nos Excess Fat Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified Adiposis

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06149	HFE Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18894	Hfe Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25385	Hfe Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Inhibitory Antibodies (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P992072	Anti-Human/Mouse CD95 Antibody (HFE7A)		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	HFE	VGNC	VGNC:41671
Felis catus	HFE	VGNC	VGNC:67561
Mus musculus	HFE	MGD	MGI:109191
Bos taurus	HFE	VGNC	VGNC:29831
Rattus norvegicus	HFE	RGD	RGD:2793
Macaca mulatta	HFE	VGNC	VGNC:73371
Others	HFE	NCBI