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Aliases for TFR2 Gene

Aliases for TFR2 Gene

  • Transferrin Receptor 2 2 3 5
  • Transferrin Receptor Protein 2 3
  • TFRC2 3
  • HFE3 3
  • TfR2 4

External Ids for TFR2 Gene

Previous GeneCards Identifiers for TFR2 Gene

  • GC07M098752
  • GC07M099815
  • GC07M099829
  • GC07M099862
  • GC07M100055
  • GC07M100218
  • GC07M094849

Summaries for TFR2 Gene

Entrez Gene Summary for TFR2 Gene

  • 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]

GeneCards Summary for TFR2 Gene

TFR2 (Transferrin Receptor 2) is a Protein Coding gene. Diseases associated with TFR2 include Hemochromatosis, Type 3 and Hemochromatosis, Type 1. Among its related pathways are AMPK Enzyme Complex Pathway and Iron metabolism in placenta. Gene Ontology (GO) annotations related to this gene include transferrin receptor activity. An important paralog of this gene is TFRC.

UniProtKB/Swiss-Prot for TFR2 Gene

  • Mediates cellular uptake of transferrin-bound iron in a non-iron dependent manner. May be involved in iron metabolism, hepatocyte function and erythrocyte differentiation.

Gene Wiki entry for TFR2 Gene

Additional gene information for TFR2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TFR2 Gene

Genomics for TFR2 Gene

GeneHancer (GH) Regulatory Elements for TFR2 Gene

Promoters and enhancers for TFR2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07I100640 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE 550.8 +1.3 1347 2.8 HDGF PKNOX1 SMAD1 MLX ARNT ARID4B DMAP1 YY1 POLR2B ZNF766 TFR2 ZNF3 MOSPD3 TRIM4 GIGYF1 SRRT STAG3L5P PCOLCE ENSG00000242798 PPP1R35
GH07I100611 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 0.3 +30.6 30555 2.2 HDGF PKNOX1 CLOCK SMAD1 ARNT ARID4B SIN3A ZNF2 YY1 POLR2B MOSPD3 MEPCE SRRT PPP1R35 AP4M1 ZSCAN25 FBXO24 C7orf43 STAG3L5P GIGYF1
GH07I100626 Promoter/Enhancer 1.4 Ensembl ENCODE 0.4 +16.0 16000 0.9 HDGF PKNOX1 ATF1 ARNT FEZF1 ZBTB7B GTF3C2 GLIS2 ZNF143 SP3 MOSPD3 SRRT PPP1R35 GIGYF1 TRIM4 MEPCE AP4M1 STAG3L5P ZNF3 ENSG00000242798
GH07I100632 Promoter/Enhancer 1.3 Ensembl ENCODE 0.4 +9.5 9476 1.7 RB1 SIN3A RAD21 ZNF335 ZNF143 RCOR1 IKZF2 RUNX3 SMARCA5 REST MBLAC1 PVRIG TFR2 MOSPD3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TFR2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TFR2 gene promoter:

Genomic Locations for TFR2 Gene

Genomic Locations for TFR2 Gene
22,364 bases
Minus strand

Genomic View for TFR2 Gene

Genes around TFR2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TFR2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TFR2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TFR2 Gene

Proteins for TFR2 Gene

  • Protein details for TFR2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Transferrin receptor protein 2
    Protein Accession:
    Secondary Accessions:
    • A6NGM7
    • O75422
    • Q1HE13
    • Q9HA99
    • Q9NX67

    Protein attributes for TFR2 Gene

    801 amino acids
    Molecular mass:
    88755 Da
    Quaternary structure:
    • Homodimer.
    • The variant Lys-172 found in hereditary hemochromatosis type III affects the putative initiation codon of the beta isoform thus preventing its translation.
    • Sequence=BAA91153.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for TFR2 Gene


neXtProt entry for TFR2 Gene

Post-translational modifications for TFR2 Gene

  • Ubiquitination at posLast=609609
  • Glycosylation at isoforms=2, 3240, posLast=339339, isoforms=2, 3540, and isoforms=2, 3754
  • Modification sites at PhosphoSitePlus

Other Protein References for TFR2 Gene

No data available for DME Specific Peptides for TFR2 Gene

Domains & Families for TFR2 Gene

Gene Families for TFR2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for TFR2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the peptidase M28 family. M28B subfamily.
  • Belongs to the peptidase M28 family. M28B subfamily.
genes like me logo Genes that share domains with TFR2: view

Function for TFR2 Gene

Molecular function for TFR2 Gene

GENATLAS Biochemistry:
transferrin receptor 2,involved in the cellular transport of iron (alpha form),similar to TFRC,negatively modulated by the hemochromatosis protein HFE,expressed in the liver
UniProtKB/Swiss-Prot Function:
Mediates cellular uptake of transferrin-bound iron in a non-iron dependent manner. May be involved in iron metabolism, hepatocyte function and erythrocyte differentiation.

Phenotypes From GWAS Catalog for TFR2 Gene

Gene Ontology (GO) - Molecular Function for TFR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004998 transferrin receptor activity NAS 10409623
GO:0005515 protein binding IPI 18353247
GO:0033570 transferrin transmembrane transporter activity IEA --
GO:0039706 co-receptor binding IPI 22728873
genes like me logo Genes that share ontologies with TFR2: view
genes like me logo Genes that share phenotypes with TFR2: view

Human Phenotype Ontology for TFR2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TFR2 Gene

MGI Knock Outs for TFR2:

Animal Model Products

  • Taconic Biosciences Mouse Models for TFR2

miRNA for TFR2 Gene

miRTarBase miRNAs that target TFR2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for TFR2 Gene

Localization for TFR2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TFR2 Gene

Cell membrane; Single-pass type II membrane protein.
Isoform Beta: Cytoplasm. Note=Lacks the transmembrane domain. Probably intracellular.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TFR2 gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytosol 2
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1
endosome 1

Gene Ontology (GO) - Cellular Components for TFR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IGI,NAS 10409623
GO:0009897 external side of plasma membrane IGI 18353247
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with TFR2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TFR2 Gene

Pathways & Interactions for TFR2 Gene

genes like me logo Genes that share pathways with TFR2: view

Pathways by source for TFR2 Gene

1 BioSystems pathway for TFR2 Gene
1 Qiagen pathway for TFR2 Gene

Gene Ontology (GO) - Biological Process for TFR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006826 iron ion transport NAS 10409623
GO:0006879 cellular iron ion homeostasis TAS 15319276
GO:0006898 receptor-mediated endocytosis IGI 18353247
GO:0006953 acute-phase response IEA --
GO:0010039 response to iron ion IMP 21173098
genes like me logo Genes that share ontologies with TFR2: view

No data available for SIGNOR curated interactions for TFR2 Gene

Drugs & Compounds for TFR2 Gene

(4) Drugs for TFR2 Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Gallium citrate Ga 67 Approved Pharma Transporter, substrate 0
Gallium nitrate Approved, Investigational Pharma Transporter 6

(1) Additional Compounds for TFR2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
genes like me logo Genes that share compounds with TFR2: view

Transcripts for TFR2 Gene

Unigene Clusters for TFR2 Gene

Transferrin receptor 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TFR2 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^
SP1: -
SP2: - -
SP3: - -
SP5: - -

ExUns: 20

Relevant External Links for TFR2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for TFR2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TFR2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TFR2 Gene

This gene is overexpressed in Liver (x47.1).

Protein differential expression in normal tissues from HIPED for TFR2 Gene

This gene is overexpressed in Gallbladder (39.4) and Liver (25.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TFR2 Gene

Protein tissue co-expression partners for TFR2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TFR2 Gene:


SOURCE GeneReport for Unigene cluster for TFR2 Gene:


mRNA Expression by UniProt/SwissProt for TFR2 Gene:

Tissue specificity: Predominantly expressed in liver. While the alpha form is also expressed in spleen, lung, muscle, prostate and peripheral blood mononuclear cells, the beta form is expressed in all tissues tested, albeit weakly.

Evidence on tissue expression from TISSUES for TFR2 Gene

  • Liver(4.8)
  • Blood(2.3)
  • Intestine(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TFR2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • urinary
Head and neck:
  • brain
  • head
  • mouth
  • pituitary gland
  • salivary gland
  • breast
  • esophagus
  • kidney
  • liver
  • spleen
  • ovary
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vulva
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
  • blood
  • blood vessel
  • coagulation system
  • hair
  • red blood cell
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with TFR2: view

Orthologs for TFR2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for TFR2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia TFR2 33 34
  • 99.5 (n)
(Canis familiaris)
Mammalia TFR2 33 34
  • 87.46 (n)
(Bos Taurus)
Mammalia TFR2 33 34
  • 86.97 (n)
(Mus musculus)
Mammalia Tfr2 33 16 34
  • 82.71 (n)
(Rattus norvegicus)
Mammalia Tfr2 33
  • 82.37 (n)
(Monodelphis domestica)
Mammalia TFR2 34
  • 69 (a)
(Anolis carolinensis)
Reptilia TFR2 34
  • 70 (a)
(Danio rerio)
Actinopterygii tfr2 33
  • 60.84 (n)
TFR2 (2 of 2) 34
  • 53 (a)
TFR2 (1 of 2) 34
  • 34 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VPS70 34
  • 19 (a)
TRE1 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 24 (a)
Species where no ortholog for TFR2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TFR2 Gene

Gene Tree for TFR2 (if available)
Gene Tree for TFR2 (if available)

Paralogs for TFR2 Gene

Paralogs for TFR2 Gene

genes like me logo Genes that share paralogs with TFR2: view

Variants for TFR2 Gene

Sequence variations from dbSNP and Humsavar for TFR2 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs1060502723 uncertain-significance, Hemochromatosis type 1 100,627,488(-) C/G/T coding_sequence_variant, missense_variant
rs1060502724 uncertain-significance, Hemochromatosis type 1 100,626,863(-) C/T coding_sequence_variant, missense_variant
rs139178017 likely-benign, Hereditary hemochromatosis 100,628,224(-) C/T coding_sequence_variant, synonymous_variant
rs139383159 uncertain-significance, Hereditary hemochromatosis 100,630,907(-) C/T coding_sequence_variant, missense_variant
rs140020076 uncertain-significance, Hereditary hemochromatosis 100,631,836(-) A/T coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for TFR2 Gene

Variant ID Type Subtype PubMed ID
esv2734888 CNV deletion 23290073
nsv831072 CNV loss 17160897
nsv951386 CNV deletion 24416366

Variation tolerance for TFR2 Gene

Residual Variation Intolerance Score: 84.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.35; 63.28% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TFR2 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TFR2 Gene

Disorders for TFR2 Gene

MalaCards: The human disease database

(14) MalaCards diseases for TFR2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search TFR2 in MalaCards View complete list of genes associated with diseases


  • Hemochromatosis 3 (HFE3) [MIM:604250]: A disorder of iron metabolism characterized by iron overload. Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading. {ECO:0000269 PubMed:11313241, ECO:0000269 PubMed:12130528, ECO:0000269 PubMed:14633868}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for TFR2

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with TFR2: view

No data available for Genatlas for TFR2 Gene

Publications for TFR2 Gene

  1. Non-classical hereditary hemochromatosis in Portugal: novel mutations identified in iron metabolism-related genes. (PMID: 18762941) Mendes AI … Faustino P (Annals of hematology 2009) 3 22 44 58
  2. High prevalence of HFE gene mutations in patients with porphyria cutanea tarda in the Czech Republic. (PMID: 18565178) Kratka K … Horak J (The British journal of dermatology 2008) 3 22 44 58
  3. H63D homozygotes with hyperferritinaemia: Is this genotype, the primary cause of iron overload? (PMID: 17042772) de Diego C … Martínez-Castro P (European journal of haematology 2007) 3 22 44 58
  4. Analysis of HFE and TFR2 gene mutations in patients with acute leukemia. (PMID: 15863206) Veneri D … Pizzolo G (Leukemia research 2005) 3 22 44 58
  5. Investigation of genetic variants of genes of the hemochromatosis pathway and their role in breast cancer. (PMID: 15894659) Abraham BK … GENICA Network (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2005) 3 22 44 58

Products for TFR2 Gene

Sources for TFR2 Gene

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