TFR2 - transferrin receptor 2 Gene

Also Known as HFE3; TFRC2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 7036

About TFR2

Cytogenetic location: 7q22.1 Genomic coordinates (GRCh38): 7:100,620,420-100,641,552 (from NCBI)

This gene has 13 transcripts (splice variants), 169 orthologues, 5 paralogues and is associated with 3 phenotypes. Restricted expression toward liver (RPKM 143.5).

Summary

This gene encodes a single-pass type II membrane protein, which is a member of the transferrin receptor-like family. This protein mediates cellular uptake of transferrin-bound iron, and may be involved in iron metabolism, hepatocyte function and erythrocyte differentiation. Mutations in this gene have been associated with hereditary hemochromatosis type III. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2011]

TFR2 Products (2)

mRNA	Protein	Name
NM_001206855.3	NP_001193784.1	transferrin receptor protein 2 isoform 2
NM_003227.4	NP_003218.2	transferrin receptor protein 2 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables co-receptor binding	IPI IPI: Inferred from physical interaction	22728873	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	18353247	GOA
enables transferrin receptor activity	IDA IDA: Inferred from direct assay	18353247	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cellular response to iron ion	IGI IGI: Inferred from genetic interaction	18353247	GOA
involved in endocytic iron import into cell	IGI IGI: Inferred from genetic interaction	18353247	GOA
involved in intracellular iron ion homeostasis	IDA IDA: Inferred from direct assay	18353247	GOA
involved in multicellular organismal-level iron ion homeostasis	IMP IMP: Inferred from mutant phenotype	21173098	GOA
involved in positive regulation of endocytosis	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 maturation	IGI IGI: Inferred from genetic interaction	18353247	GOA
involved in positive regulation of transcription by RNA polymerase II	IGI IGI: Inferred from genetic interaction	25635054	GOA
involved in receptor-mediated endocytosis	IGI IGI: Inferred from genetic interaction	18353247	GOA
involved in response to iron ion	IMP IMP: Inferred from mutant phenotype	21173098	GOA
involved in transferrin transport	IGI IGI: Inferred from genetic interaction	18353247	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of HFE-transferrin receptor complex	IDA IDA: Inferred from direct assay	12704209	GOA
located in cytoplasmic vesicle	IDA IDA: Inferred from direct assay	12704209	GOA
located in external side of plasma membrane	IGI IGI: Inferred from genetic interaction	18353247	GOA
located in plasma membrane	IGI IGI: Inferred from genetic interaction	18353247	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

TFR2 Protein Structure

Peptidase_M28

TFR_dimer

0
200
400
600
801 a.a.

Protein Preferred Names	Protein Names
transferrin receptor protein 2

TFR2 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82100	Transferrin Receptor 2 Antibody (YA1845)	WB, IHC-P	Human

Related Diseases

Diseases	Alias
Hemochromatosis, Type 3	Hemochromatosis Type 3 HFE3 Hemochromatosis Due To Defect In Transferrin Receptor 2 Tfr2-Related Hemochromatosis Tfr2-Related Hereditary Hemochromatosis Hemochromatosis 3
Tfr2-Related Hereditary Hemochromatosis	Type 3 Hereditary Hemochromatosis Hereditary Hemochromatosis Type 3
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
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
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
Rare Hereditary Hemochromatosis	Iron Overload Iron Overload Disease Idiopathic Haemosiderosis Hemosiderosis
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
Atransferrinemia	Familial Hypotransferrinemia Congenital Atransferrinemia Hypotransferrinemia, Familial Congenital Hypotransferrinemia ATRAF
Iron Deficiency Anemia	Iron-Deficiency Anemia Fe Deficiency Anaemia Ida - [Iron Deficiency Anemia] Fe - [Iron] Deficiency Anemia Nos
Iron Metabolism Disease	Iron Deficiency Iron Disorder Iron Metabolism Disorders Disorder Of Iron Metabolism Iron Fe Deficiency Iron Storage Disease Iron Storage Disorder
Metal Metabolism Disorder	Metal Metabolism, Inborn Errors Inborn Metal Metabolism Disorder
Iron Overload In Africa	African Iron Overload Bantu Siderosis African Hemochromatosis Hereditary Iron Overload And African Americans African Nutritional Hemochromatosis African Siderosis
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]
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
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
Deficiency Anemia	Anemia Deficiency Anemias Anaemia
Sideroblastic Anemia	Anemia Sideroblastic Anemia, Sideroblastic Anemia, Hypochromic With Iron Loading
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
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
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
Beta-Thalassemia Intermedia
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
Hemosiderosis	Haemosiderosis Iron Overload
Hemochromatosis, Type 2b	Hemochromatosis Type 2b HFE2B Hemochromatosis 2b
Microcytic Anemia	Iron-Refractory Iron Deficiency Anemia
Beta-Thalassemia Major	Cooley'S Anemia Cooley Anemia Mediterranean Anemia
Autosomal Dominant Beta Thalassemia	Inclusion Body Beta-Thalassemia
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
Hemoglobinopathy	Hemoglobinopathies

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-RS21441	Tfr2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS14430	TFR2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27959	Tfr2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	TFR2	VGNC	VGNC:81770
Felis catus	TFR2	VGNC	VGNC:66126
Canis familiaris	TFR2	VGNC	VGNC:47304
Bos taurus	TFR2	VGNC	VGNC:35796
Rattus norvegicus	TFR2	RGD	RGD:1310152
Mus musculus	TFR2	MGD	MGI:1354956
Others	TFR2	NCBI