TFR2 - transferrin receptor 2 Gene

Homo sapiens

Also known as HFE3; TFRC2

Gene ID: 7036 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14430	TFR2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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