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Aliases for TFR2 Gene

Aliases for TFR2 Gene

  • Transferrin Receptor 2 2 3 5
  • 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 tfr2-related hereditary hemochromatosis. Among its related pathways are AMPK Enzyme Complex Pathway and Iron metabolism in placenta. GO annotations related to this gene include transferrin receptor activity. An important paralog of this gene is FOLH1.

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

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

Genomics for TFR2 Gene

Regulatory Elements for TFR2 Gene

Promoters for TFR2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TFR2 on UCSC Golden Path with GeneCards custom track

Genomic Location for TFR2 Gene

Chromosome:
7
Start:
100,620,416 bp from pter
End:
100,642,779 bp from pter
Size:
22,364 bases
Orientation:
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:
    Q9UP52-TFR2_HUMAN
    Recommended name:
    Transferrin receptor protein 2
    Protein Accession:
    Q9UP52
    Secondary Accessions:
    • A6NGM7
    • O75422
    • Q1HE13
    • Q9HA99
    • Q9NX67

    Protein attributes for TFR2 Gene

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

    Alternative splice isoforms for TFR2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TFR2 Gene

Proteomics data for TFR2 Gene at MOPED

Post-translational modifications for TFR2 Gene

  • Ubiquitination at Lys 609
  • Glycosylation at Asn 240, Asn 339, Asn 540, and Asn 754
  • Modification sites at PhosphoSitePlus

Other Protein References for TFR2 Gene

Antibody Products

No data available for DME Specific Peptides for TFR2 Gene

Domains & Families for TFR2 Gene

Suggested Antigen Peptide Sequences for TFR2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UP52

UniProtKB/Swiss-Prot:

TFR2_HUMAN :
  • Belongs to the peptidase M28 family. M28B subfamily.
Family:
  • Belongs to the peptidase M28 family. M28B subfamily.
genes like me logo Genes that share domains with TFR2: view

No data available for Gene Families for TFR2 Gene

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.

Gene Ontology (GO) - Molecular Function for TFR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001948 glycoprotein binding IPI 18353247
GO:0005515 protein binding IPI 18353247
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

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

COMPARTMENTS
Jensen Localization Image for TFR2 Gene COMPARTMENTS Subcellular localization image for TFR2 gene
Compartment Confidence
plasma membrane 5
cytosol 2
extracellular 2
endoplasmic reticulum 1
endosome 1
golgi apparatus 1
lysosome 1
mitochondrion 1
nucleus 1
vacuole 1

Gene Ontology (GO) - Cellular Components for TFR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009897 external side of plasma membrane IGI 18353247
genes like me logo Genes that share ontologies with TFR2: view

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:0006879 cellular iron ion homeostasis TAS 15319276
GO:0010039 response to iron ion IMP 21173098
GO:0045807 positive regulation of endocytosis IGI 18353247
GO:0045944 positive regulation of transcription from RNA polymerase II promoter IGI 25635054
GO:0055072 iron ion homeostasis 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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Gallium nitrate Approved, Investigational Pharma Transporter 6

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
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:

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: - -
SP4:
SP5: - -
SP6:

ExUns: 20
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:

Relevant External Links for TFR2 Gene

GeneLoc Exon Structure for
TFR2
ECgene alternative splicing isoforms for
TFR2

Expression for TFR2 Gene

mRNA expression in normal human tissues 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, MOPED, and MaxQB for TFR2 Gene



SOURCE GeneReport for Unigene cluster for TFR2 Gene Hs.544932

mRNA Expression by UniProt/SwissProt for TFR2 Gene

Q9UP52-TFR2_HUMAN
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.
genes like me logo Genes that share expression patterns with TFR2: view

Protein tissue co-expression partners for TFR2 Gene

- Elite partner

Primer Products

In Situ Assay Products

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
cow
(Bos Taurus)
Mammalia TFR2 35
  • 86.97 (n)
  • 87.09 (a)
TFR2 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TFR2 35
  • 87.46 (n)
  • 87.62 (a)
TFR2 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tfr2 35
  • 82.71 (n)
  • 84.42 (a)
Tfr2 16
Tfr2 36
  • 85 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TFR2 35
  • 99.5 (n)
  • 99.5 (a)
TFR2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tfr2 35
  • 82.37 (n)
  • 83.79 (a)
oppossum
(Monodelphis domestica)
Mammalia TFR2 36
  • 69 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TFR2 36
  • 70 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii tfr2 35
  • 60.84 (n)
  • 54.27 (a)
TFR2 (1 of 2) 36
  • 34 (a)
OneToMany
TFR2 (2 of 2) 36
  • 53 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VPS70 36
  • 19 (a)
OneToMany
TRE1 38
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 24 (a)
ManyToMany
Species with no ortholog for TFR2:
  • 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

ENSEMBL:
Gene Tree for TFR2 (if available)
TreeFam:
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 Sequence Context AA Info Type
VAR_012738 Hemochromatosis 3 (HFE3)
VAR_034122 -
VAR_034123 -
VAR_034124 -
VAR_042515 Hemochromatosis 3 (HFE3)

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

Variant ID Type Subtype PubMed ID
esv2734888 CNV Deletion 23290073
dgv7398n71 CNV Loss 21882294
nsv888779 CNV Loss 21882294
dgv7399n71 CNV Loss 21882294
nsv831072 CNV Loss 17160897
nsv888790 CNV Gain 21882294
nsv888791 CNV Loss 21882294

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)

Relevant External Links for TFR2 Gene

HapMap Linkage Disequilibrium report
TFR2
Human Gene Mutation Database (HGMD)
TFR2

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

Disorders for TFR2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
hemochromatosis, type 3
  • hereditary hemochromatosis
tfr2-related hereditary hemochromatosis
  • hemochromatosis, type 3
hemochromatosis
  • hfe hemochromatosis, modifier of
hemochromatosis, type 4
  • hemochromatosis type 4
juvenile hereditary hemochromatosis
  • hemochromatosis
- elite association - COSMIC cancer census association via MalaCards
Search TFR2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TFR2_HUMAN
  • 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.

Relevant External Links for TFR2

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

No data available for Genatlas for TFR2 Gene

Publications for TFR2 Gene

  1. Transferrin receptor 2 (TfR2) and HFE mutational analysis in non- C282Y iron overload: identification of a novel TfR2 mutation. (PMID: 12130528) Mattman A. … Vatcher G. (Blood 2002) 2 3 4 67
  2. Stoichiometries of transferrin receptors 1 and 2 in human liver. (PMID: 19819738) ChloupkovA! M. … Enns C.A. (Blood Cells Mol. Dis. 2010) 3 23
  3. Non-classical hereditary hemochromatosis in Portugal: novel mutations identified in iron metabolism-related genes. (PMID: 18762941) Mendes A.I. … Faustino P. (Ann. Hematol. 2009) 3 23
  4. Regulation of transferrin receptor 2 in human cancer cell lines. (PMID: 19019709) Calzolari A. … Testa U. (Blood Cells Mol. Dis. 2009) 3 23
  5. A novel transferrin/TfR2-mediated mitochondrial iron transport system is disrupted in Parkinson's disease. (PMID: 19250966) Mastroberardino P.G. … Greenamyre J.T. (Neurobiol. Dis. 2009) 3 23

Products for TFR2 Gene

Sources for TFR2 Gene

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