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Aliases for TFRC Gene

Aliases for TFRC Gene

  • Transferrin Receptor 2 3 5
  • TFR1 3 4
  • TRFR 3 4
  • P90 3 4
  • TFR 3 4
  • TR 3 4
  • T9 3 4
  • Transferrin Receptor (P90, CD71) 2
  • Transferrin Receptor Protein 1 3
  • CD71 Antigen 4
  • IMD46 3
  • CD71 3

External Ids for TFRC Gene

Previous GeneCards Identifiers for TFRC Gene

  • GC03M191708
  • GC03M195991
  • GC03M197183
  • GC03M197102
  • GC03M197264
  • GC03M195754
  • GC03M193076

Summaries for TFRC Gene

Entrez Gene Summary for TFRC Gene

  • This gene encodes a cell surface receptor necessary for cellular iron uptake by the process of receptor-mediated endocytosis. This receptor is required for erythropoiesis and neurologic development. Multiple alternatively spliced variants have been identified. [provided by RefSeq, Sep 2015]

GeneCards Summary for TFRC Gene

TFRC (Transferrin Receptor) is a Protein Coding gene. Diseases associated with TFRC include Immunodeficiency 46 and Combined T Cell And B Cell Immunodeficiency. Among its related pathways are Hematopoietic cell lineage and Insulin receptor recycling. GO annotations related to this gene include poly(A) RNA binding and double-stranded RNA binding. An important paralog of this gene is TFR2.

UniProtKB/Swiss-Prot for TFRC Gene

  • Cellular uptake of iron occurs via receptor-mediated endocytosis of ligand-occupied transferrin receptor into specialized endosomes. Endosomal acidification leads to iron release. The apotransferrin-receptor complex is then recycled to the cell surface with a return to neutral pH and the concomitant loss of affinity of apotransferrin for its receptor. Transferrin receptor is necessary for development of erythrocytes and the nervous system (By similarity). A second ligand, the heditary hemochromatosis protein HFE, competes for binding with transferrin for an overlapping C-terminal binding site. Positively regulates T and B cell proliferation through iron uptake (PubMed:26642240).

  • (Microbial infection) Acts as a receptor for new-world arenaviruses: Guanarito, Junin and Machupo virus.

Gene Wiki entry for TFRC Gene

Additional gene information for TFRC Gene

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

Genomics for TFRC Gene

Regulatory Elements for TFRC Gene

Enhancers for TFRC Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03H196126 1.8 FANTOM5 Ensembl ENCODE dbSUPER 25.2 -45.4 -45402 2 HDGF PKNOX1 ATF1 ARNT TCF12 ZNF121 CBX5 GATA2 FOS ATF7 TFRC MUC4 MUC20 LINC00885 GC03M196081
GH03H196119 2 VISTA FANTOM5 Ensembl ENCODE dbSUPER 14.3 -39.7 -39658 4 HDAC1 HDGF TBL1XR1 NFRKB RUNX3 CREM ZBTB2 CEBPB JUNB REST MUC4 TFRC RNU7-18P MUC20 FBXO45 GC03M196081 LINC00885
GH03H196177 1.8 FANTOM5 Ensembl ENCODE dbSUPER 12.7 -98.8 -98790 7 HDGF PKNOX1 ATF1 ARNT SIN3A TCF12 ZNF766 GATA2 ZNF143 ZNF207 TFRC RNU7-18P SLC51A LINC00885 TCTEX1D2 NRROS RNF168 UBXN7 PCYT1A TNK2
GH03H196190 1.9 FANTOM5 Ensembl ENCODE dbSUPER 12 -110.2 -110212 5 HDGF PKNOX1 SIN3A ARID4B YBX1 TCF12 ZNF766 GATA2 ZNF143 ZNF207 ENSG00000226345 ENSG00000213358 RPS29P3 RNU7-18P TFRC TM4SF19 RNU6-910P SLC51A UBXN7 LINC00885
GH03H196168 1.7 FANTOM5 Ensembl ENCODE dbSUPER 11.9 -88.2 -88238 3 TBL1XR1 RARA RFX5 ZNF121 RCOR1 RUNX3 MIXL1 ZNF280D ELF1 ZNF217 TFRC RNU7-18P SLC51A PCYT1A UBXN7 NRROS RNF168 TNK2 TM4SF19 GC03P196177
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TFRC on UCSC Golden Path with GeneCards custom track

Promoters for TFRC Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000164344 489 2201 HDGF FOXA2 PKNOX1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B

Genomic Location for TFRC Gene

Chromosome:
3
Start:
196,027,183 bp from pter
End:
196,082,189 bp from pter
Size:
55,007 bases
Orientation:
Minus strand

Genomic View for TFRC Gene

Genes around TFRC on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for TFRC Gene

Proteins for TFRC Gene

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

    Protein Symbol:
    P02786-TFR1_HUMAN
    Recommended name:
    Transferrin receptor protein 1
    Protein Accession:
    P02786
    Secondary Accessions:
    • D3DXB0
    • Q1HE24
    • Q59G55
    • Q9UCN0
    • Q9UCU5
    • Q9UDF9
    • Q9UK21

    Protein attributes for TFRC Gene

    Size:
    760 amino acids
    Molecular mass:
    84871 Da
    Quaternary structure:
    • Homodimer; disulfide-linked. Binds one transferrin or HFE molecule per subunit. Binds the HLA class II histocompatibility antigen, DR1. Interacts with SH3BP3. Interacts with STEAP3; facilitates TFRC endocytosis in erythroid precursor cells (PubMed:26642240).
    • (Microbial infection) Interacts with Guanarito, Junin and Machupo arenavirus glycoprotein complex (PubMed:17287727, PubMed:18268337).
    Miscellaneous:
    • Canine and feline parvoviruses bind human and feline transferrin receptors and use these receptors to enter and infect cells.
    • Serum transferrin receptor (sTfR) is used as a means of detecting erythropoietin (EPO) misuse by athletes and as a diagnostic test for anemia resulting from a number of conditions including rheumatoid arthritis, pregnancy, irritable bowel syndrome and in HIV patients.
    SequenceCaution:
    • Sequence=BAD92491.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for TFRC Gene

neXtProt entry for TFRC Gene

Post-translational modifications for TFRC Gene

  • N- and O-glycosylated, phosphorylated and palmitoylated. The serum form is only glycosylated.
  • Palmitoylated on both Cys-62 and Cys-67. Cys-62 seems to be the major site of palmitoylation.
  • Proteolytically cleaved on Arg-100 to produce the soluble serum form (sTfR).
  • Ubiquitination at posLast=3939, Lys224, posLast=344344, and Lys358
  • Glycosylation at posLast=104104, posLast=251251, Asn317, and Asn727
  • Modification sites at PhosphoSitePlus

Protein Products

  • Abcam proteins for TFRC

No data available for DME Specific Peptides for TFRC Gene

Domains & Families for TFRC Gene

Gene Families for TFRC Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • CD markers
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for TFRC Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P02786

UniProtKB/Swiss-Prot:

TFR1_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 TFRC: view

Function for TFRC Gene

Molecular function for TFRC Gene

GENATLAS Biochemistry:
transferrin receptor (p90),involved in the development of erythrocytes and the nervous system
UniProtKB/Swiss-Prot Function:
Cellular uptake of iron occurs via receptor-mediated endocytosis of ligand-occupied transferrin receptor into specialized endosomes. Endosomal acidification leads to iron release. The apotransferrin-receptor complex is then recycled to the cell surface with a return to neutral pH and the concomitant loss of affinity of apotransferrin for its receptor. Transferrin receptor is necessary for development of erythrocytes and the nervous system (By similarity). A second ligand, the heditary hemochromatosis protein HFE, competes for binding with transferrin for an overlapping C-terminal binding site. Positively regulates T and B cell proliferation through iron uptake (PubMed:26642240).
UniProtKB/Swiss-Prot Function:
(Microbial infection) Acts as a receptor for new-world arenaviruses: Guanarito, Junin and Machupo virus.
UniProtKB/Swiss-Prot Induction:
Regulated by cellular iron levels through binding of the iron regulatory proteins, IRP1 and IRP2, to iron-responsive elements in the 3-UTR. Up-regulated upon mitogenic stimulation.

Phenotypes From GWAS Catalog for TFRC Gene

Gene Ontology (GO) - Molecular Function for TFRC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001618 virus receptor activity IEA --
GO:0003723 RNA binding IDA 22658674
GO:0003725 double-stranded RNA binding IDA 21266579
GO:0004998 transferrin receptor activity NAS,IEA 1871153
GO:0005515 protein binding IPI 9465039
genes like me logo Genes that share ontologies with TFRC: view
genes like me logo Genes that share phenotypes with TFRC: view

Human Phenotype Ontology for TFRC Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TFRC Gene

MGI Knock Outs for TFRC:

Animal Model Products

  • Taconic Biosciences Mouse Models for TFRC

CRISPR Products

miRNA for TFRC Gene

miRTarBase miRNAs that target TFRC

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for TFRC
  • Applied Biological Materials Clones for TFRC
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
  • R&D Systems cDNA Clones for TFRC (TfR (Transferrin R))

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

Localization for TFRC Gene

Subcellular locations from UniProtKB/Swiss-Prot for TFRC Gene

Cell membrane; Single-pass type II membrane protein. Melanosome. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. {ECO:0000269 PubMed:17081065}.
Transferrin receptor protein 1, serum form: Secreted.

Subcellular locations from

COMPARTMENTS
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 TFRC gene
Compartment Confidence
plasma membrane 5
extracellular 5
endosome 5
cytosol 3
cytoskeleton 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
lysosome 2
golgi apparatus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endosomes (3)
  • Lysosomes (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TFRC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IDA,IEA 1871153
GO:0005615 extracellular space IDA 22664934
GO:0005768 endosome IDA 14612438
GO:0005886 plasma membrane IEA,TAS --
GO:0005887 integral component of plasma membrane IGI 18353247
genes like me logo Genes that share ontologies with TFRC: view

Pathways & Interactions for TFRC Gene

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

Interacting Proteins for TFRC Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000353224%0d%0a9606.ENSP00000406209%0d%0a9606.ENSP00000431605%0d%0a9606.ENSP00000228825%0d%0a9606.ENSP00000233242%0d%0a9606.ENSP00000377015%0d%0a
Selected Interacting proteins: ENSP00000353224 P02786-TFR1_HUMAN for TFRC Gene via STRING MINT IID UniProtKB

Symbol External ID(s) Details
HLA-B
HLA-A
HLA-C
SH3BP4
ALB

SIGNOR curated interactions for TFRC Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for TFRC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001558 NOT regulation of cell growth IMP 7556058
GO:0006879 cellular iron ion homeostasis IEA,NAS 1871153
GO:0006897 endocytosis IEA --
GO:0006898 receptor-mediated endocytosis IEA --
GO:0016032 viral process IEA --
genes like me logo Genes that share ontologies with TFRC: view

Drugs & Compounds for TFRC Gene

(79) Drugs for TFRC Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Iron Approved Pharma Target 1210
Gallium citrate Ga 67 Approved Pharma Transporter, substrate 0
Gallium nitrate Approved, Investigational Pharma Transporter 6

(61) Additional Compounds for TFRC Gene - From: Novoseek and 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 TFRC: view

Transcripts for TFRC Gene

Unigene Clusters for TFRC Gene

Transferrin receptor (p90, CD71):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for TFRC
  • Applied Biological Materials Clones for TFRC
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
  • R&D Systems cDNA Clones for TFRC (TfR (Transferrin R))

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

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b ^ 16a · 16b ^ 17a · 17b ^
SP1: - - - - - -
SP2: - - - - -
SP3: - - - - - - - -
SP4: - -
SP5: - -
SP6: - - -
SP7: - - -
SP8: -
SP9: -
SP10:
SP11:

ExUns: 18a · 18b · 18c ^ 19a · 19b · 19c ^ 20a · 20b · 20c ^ 21a · 21b · 21c
SP1: - -
SP2: - -
SP3: - -
SP4: - -
SP5:
SP6:
SP7:
SP8: - -
SP9:
SP10:
SP11:

Relevant External Links for TFRC Gene

GeneLoc Exon Structure for
TFRC
ECgene alternative splicing isoforms for
TFRC

Expression for TFRC Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TFRC Gene

This gene is overexpressed in Placenta (27.7) and Fetal Liver (8.8).

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



NURSA nuclear receptor signaling pathways regulating expression of TFRC Gene:

TFRC

SOURCE GeneReport for Unigene cluster for TFRC Gene:

Hs.529618

Evidence on tissue expression from TISSUES for TFRC Gene

  • Nervous system(4.9)
  • Liver(4.8)
  • Bone marrow(4.7)
  • Eye(4.6)
  • Intestine(4)
  • Blood(3.6)
  • Kidney(3.2)
  • Lung(3.1)
  • Spleen(3)
  • Heart(2.9)
  • Skin(2.9)
  • Lymph node(2.6)
  • Muscle(2.3)
  • Pancreas(2.3)
  • Adrenal gland(2)
genes like me logo Genes that share expression patterns with TFRC: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TFRC Gene

Orthologs for TFRC Gene

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

Orthologs for TFRC Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TFRC 33 34
  • 99.69 (n)
dog
(Canis familiaris)
Mammalia TFRC 33 34
  • 84.74 (n)
cow
(Bos Taurus)
Mammalia TFRC 33 34
  • 83.84 (n)
mouse
(Mus musculus)
Mammalia Tfrc 33 16 34
  • 81.82 (n)
rat
(Rattus norvegicus)
Mammalia Tfrc 33
  • 80.85 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TFRC 34
  • 66 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 61 (a)
OneToMany
-- 34
  • 61 (a)
OneToMany
chicken
(Gallus gallus)
Aves TFRC 33 34
  • 61 (n)
lizard
(Anolis carolinensis)
Reptilia TFRC 34
  • 50 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101734813 33
  • 58.21 (n)
Str.15779 33
zebrafish
(Danio rerio)
Actinopterygii tfr1a 33 34
  • 54.57 (n)
tfr1b 34 34
  • 39 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VPS70 34
  • 18 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 24 (a)
ManyToMany
Species where no ortholog for TFRC 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)
  • 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)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TFRC Gene

ENSEMBL:
Gene Tree for TFRC (if available)
TreeFam:
Gene Tree for TFRC (if available)

Paralogs for TFRC Gene

Paralogs for TFRC Gene

(2) SIMAP similar genes for TFRC Gene using alignment to 5 proteins:

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

Variants for TFRC Gene

Sequence variations from dbSNP and Humsavar for TFRC Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs863225436 Pathogenic, Immunodeficiency 46 (IMD46) [MIM:616740] 196,075,339(-) TGTCA(C/T)ATACC intron-variant, reference, missense
rs1000045371 -- 196,077,615(+) GACGT(C/G)GTGGT intron-variant
rs1000136901 -- 196,083,133(+) CTCAC(A/G)CCTGC upstream-variant-2KB
rs1000309791 -- 196,055,689(+) CCAGG(C/T)TAGAG intron-variant
rs1000313363 -- 196,050,162(+) TTATA(C/G)GAGGT utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
esv2759213 CNV gain+loss 17122850
esv3424455 CNV insertion 20981092
esv3569219 CNV loss 25503493
nsv1002584 CNV gain 25217958
nsv1004940 CNV gain 25217958
nsv1006165 CNV gain 25217958
nsv1008512 CNV gain 25217958
nsv1010395 CNV gain 25217958
nsv10386 CNV loss 18304495
nsv428430 CNV gain+loss 18775914
nsv469518 CNV gain+loss 16826518
nsv471621 CNV gain+loss 15918152
nsv524410 CNV gain 19592680
nsv593069 CNV gain 21841781
nsv820015 CNV loss 19587683
nsv997797 CNV gain 25217958

Variation tolerance for TFRC Gene

Residual Variation Intolerance Score: 44.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.60; 78.13% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TFRC Gene

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

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

Disorders for TFRC Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
immunodeficiency 46
  • tfrc-related combined immunodeficiency
combined t cell and b cell immunodeficiency
  • combined immunodeficiency
gastric adenosquamous carcinoma
  • adenosquamous carcinoma of stomach
hemochromatosis
  • hfe hemochromatosis, modifier of
iron deficiency anemia
- elite association - COSMIC cancer census association via MalaCards
Search TFRC in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TFR1_HUMAN
  • Immunodeficiency 46 (IMD46) [MIM:616740]: An autosomal recessive primary immunodeficiency disorder characterized by early-onset chronic diarrhea, recurrent infections, hypo- or agammaglobulinemia, normal lymphocyte counts, intermittent neutropenia, and intermittent thrombocytopenia. {ECO:0000269 PubMed:26642240}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TFRC

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

No data available for Genatlas for TFRC Gene

Publications for TFRC Gene

  1. Mutational analysis of the transferrin receptor reveals overlapping HFE and transferrin binding sites. (PMID: 11800564) West AP … Bjorkman PJ (Journal of molecular biology 2001) 3 4 22 60
  2. Interaction between haemochromatosis and transferrin receptor genes in hepatocellular carcinoma. (PMID: 11096344) Beckman LE … Beckman L (Oncology 2000) 3 22 45 60
  3. Crystal structure of the ectodomain of human transferrin receptor. (PMID: 10531064) Lawrence CM … Harrison SC (Science (New York, N.Y.) 1999) 3 4 22 60
  4. Structural model of phospholipid-reconstituted human transferrin receptor derived by electron microscopy. (PMID: 9782058) Fuchs H … Gessner R (Structure (London, England : 1993) 1998) 3 4 22 60
  5. Functional analysis of human/chicken transferrin receptor chimeras indicates that the carboxy-terminal region is important for ligand binding. (PMID: 8631371) Buchegger F … Collawn JF (European journal of biochemistry 1996) 3 4 22 60

Products for TFRC Gene

  • Addgene plasmids for TFRC

Sources for TFRC Gene

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