Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7037
Gene name Gene Name - the full gene name approved by the HGNC.
Transferrin receptor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TFRC
Synonyms (NCBI Gene) Gene synonyms aliases
CD71, IMD46, T9, TFR, TFR1, TR, TRFR, p90
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q29
Summary Summary of gene provided in NCBI Entrez 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 identi
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs863225436 A>G Conflicting-interpretations-of-pathogenicity, pathogenic Missense variant, intron variant, non coding transcript variant, coding sequence variant
rs1341988492 C>A Pathogenic Splice donor variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT003744 hsa-miR-320a Luciferase reporter assay 18523662
MIRT003744 hsa-miR-320a Luciferase reporter assay 19164563
MIRT003744 hsa-miR-320a Luciferase reporter assay 18523662
MIRT003744 hsa-miR-320a Luciferase reporter assay 19135902
MIRT004538 hsa-miR-22-3p Luciferase reporter assay 19135902
Transcription factors
Transcription factor Regulation Reference
HIF1A Unknown 10446187;10446188
MYC Activation 16466700
VHL Repression 15985433
YY1 Unknown 19437620
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001558 Process Regulation of cell growth IMP 7556058
GO:0001618 Function Virus receptor activity IEA
GO:0001666 Process Response to hypoxia IEA
GO:0003723 Function RNA binding HDA 22658674
GO:0003725 Function Double-stranded RNA binding IDA 21266579
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
190010 11763 ENSG00000072274
Protein
UniProt ID P02786
Protein name Transferrin receptor protein 1 (TR) (TfR) (TfR1) (Trfr) (T9) (p90) (CD antigen CD71) [Cleaved into: Transferrin receptor protein 1, serum form (sTfR)]
Protein function Cellular uptake of iron occurs via receptor-mediated endocytosis of ligand-occupied transferrin receptor into specialized endosomes (PubMed:26214738). Endosomal acidification leads to iron release. The apotransferrin-receptor complex is then rec
PDB 1CX8 , 1DE4 , 1SUV , 2NSU , 3KAS , 3S9L , 3S9M , 3S9N , 6D03 , 6D04 , 6D05 , 6GSR , 6H5I , 6OKD , 6W3H , 6WRV , 6WRW , 6WRX , 6Y76 , 7ZQS , 8P0Z
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02225 PA 228 345 PA domain Family
PF04389 Peptidase_M28 388 594 Peptidase family M28 Family
PF04253 TFR_dimer 637 750 Transferrin receptor-like dimerisation domain Domain
Sequence
MMDQARSAFSNLFGGEPLSYTRFSLARQVDGDNSHVEMKLAVDEEENADNNTKANVTKPK
RCSGSICYGTIAVIVFFLIGFMIGYLGYCKGVEPKTECERLAGTESPVREEPGEDFPAAR
RLYWDDLKRKLSEKLDSTDFTGTIKLLNENSYVPREAGSQKDENLALYVENQFREFKLSK
VWRDQHFVKIQVKDSAQNSVIIVDKNGRLVYLVENPGGYVAYSKAATVTGKLVHANFGTK
KDFEDLYTPVNGSIVIVRAGKITFAEKVANAESLNAIGVLIYMDQTKFPIVNAELSFFGH
AHLGTGDPYTPGFPSFNHTQFPPSRSSGLPNIPVQTISRAAAEKL
FGNMEGDCPSDWKTD
STCRMVTSESKNVKLTVSNVLKEIKILNIFGVIKGFVEPDHYVVVGAQRDAWGPGAAKSG
VGTALLLKLAQMFSDMVLKDGFQPSRSIIFASWSAGDFGSVGATEWLEGYLSSLHLKAFT
YINLDKAVLGTSNFKVSASPLLYTLIEKTMQNVKHPVTGQFLYQDSNWASKVEKLTLDNA
AFPFLAYSGIPAVSFCFCEDTDYPYLGTTMDTYKELIERIPELNKVARAAAEVA
GQFVIK
LTHDVELNLDYERYNSQLLSFVRDLNQYRADIKEMGLSLQWLYSARGDFFRATSRLTTDF
GNAEKTDRFVMKKLNDRVMRVEYHFLSPYVSPKESPFRHVFWGSGSHTLPALLENLKLRK
QNNGAFNETLFRNQLALATWTIQGAANALS
GDVWDIDNEF
Sequence length 760
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Virion - Lassa virus and SFTS virus
HIF-1 signaling pathway
Endocytosis
Phagosome
Ferroptosis
TGF-beta signaling pathway
Hematopoietic cell lineage
  Golgi Associated Vesicle Biogenesis
Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis
Transferrin endocytosis and recycling
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Asthma Nonatopic asthma, Asthma, Asthma (adult onset) N/A N/A GWAS
Diabetes Type 2 diabetes, Type 2 diabetes (PheCode 250.2) N/A N/A GWAS
Severe combined immunodeficiency disease combined immunodeficiency N/A N/A ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acute Kidney Injury Associate 35569444
Adenocarcinoma of Lung Associate 29286585
Adenoma Associate 9466567
Adrenal Insufficiency Associate 27402672
Adrenocortical Carcinoma Associate 32207273, 33626208
Airway Obstruction Associate 24789352
Anemia Associate 11954010, 37623041
Anemia Aplastic Associate 8701944
Anemia Diamond Blackfan Associate 18815190
Anemia Hemolytic Associate 37658365