Gene Gene information from NCBI Gene database.
Entrez ID 7037
Gene name Transferrin receptor
Gene symbol TFRC
Synonyms (NCBI Gene)
CD71IMD46T9TFRTFR1TRTRFRp90
Chromosome 3
Chromosome location 3q29
Summary 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.
2
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.
1084
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 factors information provided by TRRUST V2 database.
4
Transcription factor Regulation Reference
HIF1A Unknown 10446187;10446188
MYC Activation 16466700
VHL Repression 15985433
YY1 Unknown 19437620
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
98
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
190010 11763 ENSG00000072274
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
36
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
TFRC-related combined immunodeficiency Pathogenic rs1341988492 RCV000714864
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANEMIA, IRON-DEFICIENCY CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Erythroblastic Leukemia Erythroblastic Leukemia BEFREE 2268267, 23609441, 23962073, 7742556
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 23962073
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 28656755, 29875008
★☆☆☆☆
Found in Text Mining only
Acute Megakaryocytic Leukemias Megakaryocytic Leukemia BEFREE 23962073
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 23962073
★☆☆☆☆
Found in Text Mining only
Acute myelomonocytic leukemia Myelomonocytic Leukemia BEFREE 23962073
★☆☆☆☆
Found in Text Mining only
Acute pancreatitis Pancreatitis BEFREE 28836100
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 23962073
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 27236820, 29286585, 31843580
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of pancreas Pancreatic adenocarcinoma BEFREE 29295890
★☆☆☆☆
Found in Text Mining only