Free for academic non-profit institutions. Other users need a Commercial license

Aliases for TFR2 Gene

Aliases for TFR2 Gene

  • Transferrin Receptor 2 2 3
  • HFE3 3 6
  • Transferrin Receptor Protein 2 3
  • TFRC2 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 peptidase activity and 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for TFR2 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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 Lys609
  • Glycosylation at Asn240, Asn339, Asn540, and Asn754
  • Modification sites at PhosphoSitePlus

Other Protein References for TFR2 Gene

No data available for DME Specific Peptides for TFR2 Gene

Domains 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 :
  • Q9UP52
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:0004998 transferrin receptor activity NAS 10409623
genes like me logo Genes that share ontologies with TFR2: view
genes like me logo Genes that share phenotypes with TFR2: view

Animal Models for TFR2 Gene

MGI Knock Outs for TFR2:

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting 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
nucleus 3
extracellular 2
cytosol 1
endoplasmic reticulum 1
endosome 1
golgi apparatus 1
lysosome 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for TFR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005887 integral component of plasma membrane NAS 10409623
genes like me logo Genes that share ontologies with TFR2: view

Pathways for TFR2 Gene

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

Pathways by source for TFR2 Gene

1 Qiagen pathway for TFR2 Gene
1 BioSystems 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 NAS 10409623
GO:0055072 iron ion homeostasis --
genes like me logo Genes that share ontologies with TFR2: view

Compounds for TFR2 Gene

(1) HMDB Compounds for TFR2 Gene

Compound Synonyms Cas Number PubMed IDs
Iron
  • Armco iron
7439-89-6

(2) Novoseek inferred chemical compound relationships for TFR2 Gene

Compound -log(P) Hits PubMed IDs
iron 86.2 160
deferoxamine 32.1 1
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:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TFR2

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for TFR2

Flow Cytometry 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: - -
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 (47.1).

Integrated Proteomics: protein expression 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 expressions with TFR2: view

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
chimpanzee
(Pan troglodytes)
Mammalia TFR2 35
  • 99.5 (n)
  • 99.5 (a)
TFR2 36
  • 100 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia TFR2 36
  • 69 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tfr2 35
  • 82.37 (n)
  • 83.79 (a)
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 TRE1 38
VPS70 36
  • 19 (a)
OneToMany
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 MAF
rs14125 -- 100,633,040(-) CGCCT(G/T)CTGCT reference, synonymous-codon
rs909149 -- 100,630,799(-) GTGCA(C/G)GAGGC intron-variant
rs1987544 -- 100,630,445(-) gggcc(C/T)ggtgg intron-variant
rs2075673 -- 100,633,965(-) TTTGG(A/G)AGGCC upstream-variant-2KB, intron-variant
rs2075674 Benign 100,627,408(-) CCCGC(C/T)GTGGC reference, synonymous-codon

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

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

(1) OMIM Diseases for TFR2 Gene (604720)

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.

(4) University of Copenhagen DISEASES for TFR2 Gene

(18) Novoseek inferred disease relationships for TFR2 Gene

Disease -log(P) Hits PubMed IDs
hemochromatosis, type 3 96.6 9
hemochromatosis 93.7 52
hemochromatosis, juvenile 93.6 8
iron overload 93.3 37
hereditary hemochromatosis 92.9 27

Relevant External Links for TFR2

GeneTests
TFR2
GeneReviews
TFR2
Genetic Association Database (GAD)
TFR2
Human Genome Epidemiology (HuGE) Navigator
TFR2
genes like me logo Genes that share disorders with TFR2: view

Publications for TFR2 Gene

  1. The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22. (PMID: 10802645) Camaschella C. … Gasparini P. (Nat. Genet. 2000) 3 4 23
  2. New mutations inactivating transferrin 2 in hemochromatosis type 3. (PMID: 11313241) Roetto A. … Camaschella C. (Blood 2001) 3 4 23
  3. Transferrin receptor-2 (TFR2) mutation Y250X in Alabama Caucasian and African American subjects with and without primary iron overload. (PMID: 11358388) Barton E.H. … Acton R.T. (Blood Cells Mol. Dis. 2001) 3 23 48
  4. Molecular cloning of transferrin receptor 2: a new member of the transferrin receptor-like family. (PMID: 10409623) Kawabata H. … Koeffler H.P. (J. Biol. Chem. 1999) 3 4 23
  5. Mutation analysis of transferrin-receptor 2 in patients with atypical hemochromatosis. (PMID: 12150153) Hofmann W.-K. … Koeffler H.P. (Blood 2002) 3 4 23

Products for TFR2 Gene

Sources for TFR2 Gene

Back to Top

Content