Gene table of TFRC : transferrin receptor

Gene-disease associations table

Disease ID	Disease name	Source of annotation with TFRC	OMIM link	Number of associated genes	genes
616740	IMMUNODEFICIENCY 46	ClinVar, OMIM	link to OMIM	1	TFRC

Download the gene annotation in CSV format

Annotation of the gene TFRC

Associated genes in ENSEMBL

ENSG00000072274

Associated proteins - SwissProt Accession ID

P02786

Associated PDB IDs

Cytogenetic Band

3q29

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
HIF-1 signaling pathway	hsa04066	5.9
Phagosome	hsa04145	5.27
Endocytosis	hsa04144	4.92
Hematopoietic cell lineage	hsa04640	6.18

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Transmembrane transport of small molecules	R-HSA-382551	3.79
Membrane Trafficking	R-HSA-199991	5.26
Transferrin endocytosis and recycling	R-HSA-917977	8.12
trans-Golgi Network Vesicle Budding	R-HSA-199992	6.85
Golgi Associated Vesicle Biogenesis	R-HSA-432722	7.23
Iron uptake and transport	R-HSA-917937	7.56
Clathrin derived vesicle budding	R-HSA-421837	6.85
Vesicle-mediated transport	R-HSA-5653656	4.33

Associated GO terms for Molecular function

GO term	GO ID	GO IC
cargo receptor activity	GO:0038024	5.53
heat shock protein binding	GO:0031072	5.24
molecular transducer activity	GO:0060089	2.32
receptor activity	GO:0004872	2.32
nucleic acid binding	GO:0003676	1.44
heterocyclic compound binding	GO:1901363	1.06
glycoprotein binding	GO:0001948	5.11
macromolecule transmembrane transporter activity	GO:0022884	6.65
transition metal ion transmembrane transporter activity	GO:0046915	6.05
Hsp70 protein binding	GO:0030544	6.37
chaperone binding	GO:0051087	5.34
primary active transmembrane transporter activity	GO:0015399	4.98
double-stranded RNA binding	GO:0003725	5.58
transferrin receptor activity	GO:0004998	9.05
metal ion transmembrane transporter activity	GO:0046873	3.71
identical protein binding	GO:0042802	2.63
protein homodimerization activity	GO:0042803	3.16
protein transporter activity	GO:0008565	5.17
P-P-bond-hydrolysis-driven protein transmembrane transporter activity	GO:0015450	7.54
transporter activity	GO:0005215	2.57
poly(A) RNA binding	GO:0044822	2.69
cation transmembrane transporter activity	GO:0008324	3.32
protein transmembrane transporter activity	GO:0008320	6.79
ferric iron transmembrane transporter activity	GO:0015091	8.64
substrate-specific transmembrane transporter activity	GO:0022891	2.9
inorganic cation transmembrane transporter activity	GO:0022890	3.49
substrate-specific transporter activity	GO:0022892	2.72
trivalent inorganic cation transmembrane transporter activity	GO:0072510	8.64
carbohydrate derivative binding	GO:0097367	2.03
organic cyclic compound binding	GO:0097159	1.05
virus receptor activity	GO:0001618	5.49
ion transmembrane transporter activity	GO:0015075	3.04
transmembrane transporter activity	GO:0022857	2.82
iron ion transmembrane transporter activity	GO:0005381	7.66
transferrin transmembrane transporter activity	GO:0033570	9.05
RNA binding	GO:0003723	2.36
protein binding	GO:0005515	0.46
active transmembrane transporter activity	GO:0022804	3.85
protein dimerization activity	GO:0046983	2.72
P-P-bond-hydrolysis-driven transmembrane transporter activity	GO:0015405	4.98
binding	GO:0005488	0.18