TFRC

Summary

TFRC (transferrin receptor, HGNC:11763) is a protein-coding gene on chromosome 3q29, encoding Transferrin receptor protein 1 (P02786). Cellular uptake of iron occurs via receptor-mediated endocytosis of ligand-occupied transferrin receptor into specialized endosomes. It is a selective cancer dependency (DepMap: 71.8% of cell lines).

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.

Source: NCBI Gene 7037 — RefSeq curated summary.

At a glance

• Gene–disease (curated): TFRC-related combined immunodeficiency (Definitive, ClinGen)
• GWAS associations: 41
• Clinical variants (ClinVar): 734 total — 1 pathogenic
• Phenotypes (HPO): 13
• Druggable target: yes
• Cancer driver (intOGen): activating (oncogene-like) across 2 cancer types
• Cancer dependency (DepMap): dependent in 71.8% of screened cell lines
• MANE Select transcript: NM_001128148

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:11763
Approved symbol	TFRC
Name	transferrin receptor
Location	3q29
Locus type	gene with protein product
Status	Approved
Aliases	CD71, TFR1, p90
Ensembl gene	ENSG00000072274
Ensembl biotype	protein_coding
OMIM	190010
Entrez	7037

Gene structure

Transcript identifiers

Ensembl transcripts: 49 — 22 protein_coding, 18 retained_intron, 5 nonsense_mediated_decay, 4 protein_coding_CDS_not_defined

ENST00000360110, ENST00000392396, ENST00000420415, ENST00000421258, ENST00000426789, ENST00000463047, ENST00000463356, ENST00000464011, ENST00000464368, ENST00000465288, ENST00000475593, ENST00000477148, ENST00000482479, ENST00000483983, ENST00000491658, ENST00000698274, ENST00000698275, ENST00000698276, ENST00000698277, ENST00000698278, ENST00000698279, ENST00000698280, ENST00000698281, ENST00000698282, ENST00000698283, ENST00000698284, ENST00000698285, ENST00000698286, ENST00000698287, ENST00000698288, ENST00000698289, ENST00000698290, ENST00000698291, ENST00000698292, ENST00000698293, ENST00000698294, ENST00000698295, ENST00000698296, ENST00000873397, ENST00000916319, ENST00000916320, ENST00000916321, ENST00000916322, ENST00000966681, ENST00000966682, ENST00000966683, ENST00000966684, ENST00000966685, ENST00000966686

RefSeq mRNA: 4 — MANE Select: NM_001128148 NM_001128148, NM_001313965, NM_001313966, NM_003234

CCDS: CCDS3312, CCDS82891, CCDS93444

Canonical transcript exons

ENST00000360110 — 19 exons

Exon	Start	End
ENSE00001511657	196049284	196052184
ENSE00001649747	196055080	196055301
ENSE00003463330	196053418	196053558
ENSE00003973176	196058574	196058632
ENSE00003973179	196067518	196067657
ENSE00003973185	196071396	196071498
ENSE00003973198	196062854	196062939
ENSE00003973201	196064309	196064428
ENSE00003973202	196075159	196075360
ENSE00003973203	196058284	196058365
ENSE00003973205	196082043	196082090
ENSE00003973208	196060180	196060247
ENSE00003973210	196073930	196074125
ENSE00003973212	196065443	196065600
ENSE00003973213	196072003	196072152
ENSE00003973221	196077064	196077122
ENSE00003973222	196068032	196068130
ENSE00003973223	196069455	196069568
ENSE00003973227	196062582	196062645

Expression profiles

Bgee: expression breadth ubiquitous, 295 present calls, max score 99.82.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 102.7579 / max 4672.1133, expressed in 1824 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
46327	97.3464	1823
46328	5.4115	1589

Top tissues by expression

295 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
endothelial cell	CL:0000115	99.82	gold quality
trabecular bone tissue	UBERON:0002483	99.66	gold quality
tibia	UBERON:0000979	99.48	gold quality
germinal epithelium of ovary	UBERON:0001304	99.38	gold quality
visceral pleura	UBERON:0002401	99.38	gold quality
hair follicle	UBERON:0002073	99.29	gold quality
pleura	UBERON:0000977	99.27	gold quality
parietal pleura	UBERON:0002400	99.20	gold quality
periodontal ligament	UBERON:0008266	99.18	gold quality
mucosa of sigmoid colon	UBERON:0004993	99.14	gold quality
colonic mucosa	UBERON:0000317	99.02	gold quality
bone marrow	UBERON:0002371	98.98	gold quality
lower lobe of lung	UBERON:0008949	98.95	gold quality
placenta	UBERON:0001987	98.70	gold quality
cartilage tissue	UBERON:0002418	98.68	gold quality
palpebral conjunctiva	UBERON:0001812	98.59	gold quality
cervix squamous epithelium	UBERON:0006922	98.41	gold quality
squamous epithelium	UBERON:0006914	98.40	gold quality
Brodmann (1909) area 23	UBERON:0013554	98.39	gold quality
esophagus squamous epithelium	UBERON:0006920	98.37	gold quality
gingival epithelium	UBERON:0001949	98.32	gold quality
bone marrow cell	CL:0002092	98.26	gold quality
mucosa of urinary bladder	UBERON:0001259	98.21	gold quality
epithelium of nasopharynx	UBERON:0001951	98.16	gold quality
endometrium epithelium	UBERON:0004811	98.04	gold quality
gingiva	UBERON:0001828	97.87	gold quality
amniotic fluid	UBERON:0000173	97.85	gold quality
biceps brachii	UBERON:0001507	97.83	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	97.82	gold quality
epithelium of esophagus	UBERON:0001976	97.81	gold quality

Single-cell (SCXA)

Detected in 14 experiment(s), a significant marker in 11.

Experiment	Marker?	Max mean expression
E-GEOD-84465	yes	2390.14
E-GEOD-76312	yes	1412.58
E-MTAB-8205	yes	282.44
E-CURD-112	yes	74.98
E-HCAD-6	yes	53.92
E-MTAB-6701	yes	37.10
E-MTAB-10042	yes	24.52
E-MTAB-9067	yes	21.41
E-MTAB-9388	yes	7.66
E-HCAD-9	yes	6.06
E-GEOD-86618	no	976.02
E-MTAB-3929	no	743.27
E-MTAB-9689	no	404.54
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): ARNT, CREB1, E2F4, EPAS1, ETS1, GATA2, HIF1A, HJV, MAFB, MYC, SP3, STAT5A, TBP, TMPRSS6, TP53, TXK, VHL, XRCC5, YY1

miRNA regulators (miRDB)

219 targeting TFRC, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-518D-5P	100.00	67.51	979
HSA-MIR-518E-5P	100.00	67.66	954
HSA-MIR-518F-5P	100.00	67.51	979
HSA-MIR-519A-5P	100.00	67.66	954
HSA-MIR-519B-5P	100.00	67.66	954
HSA-MIR-519C-5P	100.00	67.66	954
HSA-MIR-520C-5P	100.00	67.51	979
HSA-MIR-522-5P	100.00	67.66	954
HSA-MIR-523-5P	100.00	67.66	954
HSA-MIR-526A-5P	100.00	67.51	979
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 71.8% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 40)

• gene coding and flanking regions were sequenced and examined for mutations that might modulate the iron burden of individuals harboring the common mutant hemochromatosis HFE genotype or cause hemochromatosis independent of mutations in the HFE gene (PMID:11783942)
• mutational analysis of the transferrin receptor reveals overlapping HFE and transferrin binding sites (PMID:11800564)
• location was observed on or near the cell surface suggesting it might participate in surface membrane transport of iron (PMID:11891802)
• Analysis of TFRC1 genotypes and HFE gene mutations in French porphyria cutanea tarda (sPCT)patients revealed that, independently from HFE gene mutations, an association was found between the IVS4+198 T allele in the TFRC1 gene and sPCT patients. (PMID:11929045)
• a biological marker of erythropoiesis: blood levels in chronic hemodialysis patients (PMID:12032198)
• Circulating levels are affectd by endurance training along with other indicators of iron status in female athletes. (PMID:12071581)
• Results suggest that transferrin receptor shedding is constitutively mediated by a member of the metalloprotease family known as ADAM (for a disintegrin and metalloprotease) that is inhibited by tumor necrosis factor alpha protease inhibitor-2 (TAPI-2). (PMID:12163483)
• Multiple, conserved iron-responsive elements in the 3’-untranslated region of transferrin receptor mRNA enhance binding of iron regulatory protein 2 (PMID:12200453)
• membrane-associated forms of neutrophil elastase and cathepsin G may be involved in alternative transferrin receptor shedding in U937 cells (PMID:12222675)
• determination of transferrin recycling pathway requiring phosphatidylinositol 3-kinase activity (PMID:12372835)
• TfR and TfR2 have similar cellular localizations in K562 cells and coimmunoprecipitate to only a very limited extent. Western analysis of the receptors under nonreducing conditions reveals that they can form heterodimers. (PMID:12406888)
• TfR1 polymorphisms bore no detectable relation to disease severity or response to therapy. (PMID:12445428)
• human transferrin receptor recognizes a complex of Yb3+-transferrin which is a possible pathway for Yb3+ accumulation in cells (PMID:12473103)
• Association between IgA deposits and CD71 expression and their co-localization in mesangium provide strong evidence that CD71 is major IgA receptor on mesangial cells. (PMID:12538733)
• presence in blood serves as a diagnostic indicator of hemolytic anemia (PMID:12707725)
• The concomitant presence of Abeta 1-40 fragment and of IL1beta or TNFalpha caused an increase in the percentage of CD71 positive cells (PMID:12767055)
• in beta-thalassemic patients, significant reduction of CD49d, CD29 and CD71 antigen expression was found in peripheral blood nucleated red cells (PMID:12904899)
• analysis of ligand recognition by the human transferrin receptor (PMID:14691533)
• Reductive release of iron from transferrin, which binds Fe2+ very weakly, is physiologically feasible, a further indication that the transferrin receptor is more than a passive conveyor of transferrin and its iron. (PMID:14705946)
• Increased expression of CD71 antigen is associated with melanoma (PMID:14727087)
• MPP(+)-dependent aconitase inactivation, Tf-iron uptake, and oxidant generation result in the depletion of intracellular tetrahydrobiopterin, leading to the uncoupling of nNOS activity (PMID:14752097)
• Study proposes mechanism of interaction of transferrin with its receptor based on at least two different TFR species: the TFR species found in the neutral media of biological fluids, and the acidic species found in the mildly acidic media of the endosome. (PMID:14769051)
• analysis of the structure of TfR-Tf complex explains differences in the iron-release properties of free and receptor bound Tf (PMID:14980223)
• Transferrin receptor 1 is a gatekeeper for regulating iron [review]. (PMID:15313461)
• Toxoplasma gondii infection resulted in increased activity in the iron response protein IRP1, which, in this state, stabilizes transferrin receptor mRNA from degradation. (PMID:15349772)
• monocyte-derived dendritic cells express another IgA receptor (IgA-R), the transferrin receptor (TfR) (PMID:15371488)
• utility of sesrum TfR outcomes for the detection of iron deficiency during early lactation. (PMID:15623846)
• Transferrin receptor (TfR) and hemochromatosis factor, as well as TfR and DMT1 interact in placental trophoblast cells (PMID:15880641)
• The effects of mutating the liganding residues in the two lobes of transferrin and the subtle indications of cooperativity between lobes point to the importance of the transferrin receptor in effecting iron release from the C-lobe. (PMID:15924420)
• functional cooperation between pIgA1 and TfR for IgA1 deposition and mesangial cell proliferation and activation (PMID:15987753)
• Aluminum interference with transferrin receptor-mediated iron incorporation might trigger the upregulation of non-transferrin bound iron uptake. (PMID:16085060)
• TfR1 expression is attenuated in a cell-density-dependent manner in human lung cancer H1299 cells and in murine B6 fibroblasts as the result of a marked decrease in mRNA content. (PMID:16092918)
• Soluble transferrin receptor is an additional parameter to ferritin for the diagnosis of iron-deficiency anemia (PMID:16271988)
• hypothesis that one molecular mechanism by which 11q23 deletions confer a poor prognosis in CLL is via increased TfR expression secondary to ATM loss, resulting in the increased cellular iron import, and hence increased capacity for malignant growth (PMID:16326028)
• Iron binding C- and N-lobes of Tf sequester iron as a function of complex formation; these structural changes promote tighter binding of the metal ion and facilitate efficient ion transport during endocytosis. (PMID:16332734)
• soluble transferrin receptor release is directly regulated by binding of its ligand ferritransferrin (PMID:16354665)
• These findings provide a molecular basis for increased TFRC1 expression in human tumors, illuminate the role of TFRC1 in the c-Myc target gene network (PMID:16508012)
• mechanism of iron release from the N-lobe and C-lobe of serum transferrin in interaction with intact transferrin receptor 1 at 4.3< or =pH< or =6.5 (PMID:16564538)
• Serum transferrin receptor concentrations were measured in 151 pairs of women with HIV infections were associated wiwth mortality. (PMID:16704960)
• Increased expression for transferrin receptor mrna is associated with esophageal squamous cell carcinoma (PMID:16788758)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	tfr1b	ENSDARG00000077372
danio_rerio	tfr1a	ENSDARG00000101322
mus_musculus	Tfrc	ENSMUSG00000022797
rattus_norvegicus	Tfrc	ENSRNOG00000001766

Paralogs (5): NAALAD2 (ENSG00000077616), FOLH1 (ENSG00000086205), TFR2 (ENSG00000106327), NAALADL1 (ENSG00000168060), NAALADL2 (ENSG00000177694)

Protein

Protein identifiers

Transferrin receptor protein 1 — P02786 (reviewed: P02786)

Alternative names: T9, Transferrin receptor 1, p90

All UniProt accessions (11): P02786, A0A8V8TLK4, A0A8V8TLK7, A0A8V8TLM6, A0A8V8TLN0, A0A8V8TM41, A0A8V8TM46, A0A8V8TN37, A0A8V8TND0, F8WBE5, G3V0E5

UniProt curated annotations — full annotation on UniProt →

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. A second ligand, the hereditary 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. Acts as a lipid sensor that regulates mitochondrial fusion by regulating activation of the JNK pathway. When dietary levels of stearate (C18:0) are low, promotes activation of the JNK pathway, resulting in HUWE1-mediated ubiquitination and subsequent degradation of the mitofusin MFN2 and inhibition of mitochondrial fusion. When dietary levels of stearate (C18:0) are high, TFRC stearoylation inhibits activation of the JNK pathway and thus degradation of the mitofusin MFN2. Mediates uptake of NICOL1 into fibroblasts where it may regulate extracellular matrix production. (Microbial infection) Acts as a receptor for new-world arenaviruses: Guanarito, Junin and Machupo virus. (Microbial infection) Acts as a host entry factor for rabies virus that hijacks the endocytosis of TFRC to enter cells. (Microbial infection) Acts as a host entry factor for SARS-CoV, MERS-CoV and SARS-CoV-2 viruses that hijack the endocytosis of TFRC to enter cells. (Microbial infection) Acts as a receptor for Plasmodium vivax.

Subunit / interactions. 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. Interacts with GRM2. Interacts with SNX32; the interaction is involved in intracellular trafficking of the receptor. (Microbial infection) Interacts with Guanarito, Junin and Machupo arenavirus glycoprotein complex. (Microbial infection) Interacts with rabies virus protein G. (Microbial infection) Interacts with SARS-CoV-2 spike protein S. (Microbial infection) Interacts with Plasmodium vivax RBP2b; the interaction mediates parasite invasion into human reticulocytes.

Subcellular location. Cell membrane. Melanosome Secreted.

Post-translational modifications. Stearoylated by ZDHHC6 which inhibits TFRC-mediated activation of the JNK pathway and promotes mitochondrial fragmentation. Stearoylation does not affect iron uptake. N- and O-glycosylated, phosphorylated and palmitoylated. The serum form is only glycosylated. Proteolytically cleaved on Arg-100 to produce the soluble serum form (sTfR). Palmitoylated on both Cys-62 and Cys-67. Cys-62 seems to be the major site of palmitoylation.

Disease relevance. 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. The disease is caused by variants affecting the gene represented in this entry.

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.

Miscellaneous. 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. Canine and feline parvoviruses bind human and feline transferrin receptors and use these receptors to enter and infect cells.

Similarity. Belongs to the peptidase M28 family. M28B subfamily.

RefSeq proteins (4): NP_001121620, NP_001300894, NP_001300895, NP_003225 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003137	PA_domain	Domain
IPR007365	TFR-like_dimer_dom	Domain
IPR007484	Peptidase_M28	Domain
IPR036757	TFR-like_dimer_dom_sf	Homologous_superfamily
IPR037324	TfR1/2_PA	Domain
IPR039373	Peptidase_M28B	Family
IPR046450	PA_dom_sf	Homologous_superfamily

Pfam: PF02225, PF04253, PF04389

UniProt features (137 total): mutagenesis site 34, strand 31, helix 28, turn 9, modified residue 5, sequence variant 5, glycosylation site 4, disulfide bond 4, short sequence motif 3, sequence conflict 3, chain 2, lipid moiety-binding region 2, topological domain 2, region of interest 2, site 1, transmembrane region 1, domain 1

Structure

Experimental structures (PDB)

24 structures.

PDB	Method	Resolution (Å)
6OKD	X-RAY DIFFRACTION	1.85
8P0Z	X-RAY DIFFRACTION	1.88
6Y76	X-RAY DIFFRACTION	1.98
9GH7	X-RAY DIFFRACTION	2.08
11QC	ELECTRON MICROSCOPY	2.4
11RN	ELECTRON MICROSCOPY	2.4
3KAS	X-RAY DIFFRACTION	2.4
6WRV	X-RAY DIFFRACTION	2.47
7ZQS	ELECTRON MICROSCOPY	2.54
1DE4	X-RAY DIFFRACTION	2.8
6WRW	X-RAY DIFFRACTION	2.84
6WRX	X-RAY DIFFRACTION	3.07
1CX8	X-RAY DIFFRACTION	3.2
3S9L	X-RAY DIFFRACTION	3.22
3S9N	X-RAY DIFFRACTION	3.25
3S9M	X-RAY DIFFRACTION	3.32
6W3H	X-RAY DIFFRACTION	3.38
6D03	ELECTRON MICROSCOPY	3.68
6D04	ELECTRON MICROSCOPY	3.74
6D05	ELECTRON MICROSCOPY	3.8
6H5I	ELECTRON MICROSCOPY	3.9
6GSR	ELECTRON MICROSCOPY	5.5
1SUV	ELECTRON MICROSCOPY	7.5
2NSU	ELECTRON MICROSCOPY	27

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P02786-F1	86.87	0.76

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (1): 100–101 (cleavage; by trypsin; to produce soluble form)

Post-translational modifications (7): 10, 19, 20, 21, 24, 62, 67

Disulfide bonds (4): 89, 98, 353–363, 556–558

Glycosylation sites (4): 104, 251, 317, 727

Mutagenesis-validated functional residues (34):

Position	Phenotype
9–12	only 80% as active as wild-type receptor.
20–34	no influence on endocytic uptake of the receptor.
20–23	only 16% as active as wild-type receptor.
20	only 35% as active as wild-type receptor.
20	only 20% as active as wild-type receptor.
21	only 88% as active as wild-type receptor.
21	only 14% as active as wild-type receptor.
21	only 19% as active as wild-type receptor.
23	only 48% as active as wild-type receptor.
31–34	2-fold increase of the endocytic uptake of the receptor.
47–50	1.27-fold increase of the endocytic uptake of the receptor.
149	significantly reduces interaction with p.vivax rbp2b. no effect on binding to transferrin.
208	reduces interaction with p.vivax rbp2b. no effect on binding to transferrin.
211	significantly reduces interaction with p.vivax rbp2b. no effect on binding to transferrin.
214	reduces interaction with p.vivax rbp2b. no effect on binding to transferrin.
217	abolishes interaction with p.vivax rbp2b. no effect on binding to transferrin.
294	significantly reduces interaction with p.vivax rbp2b. no effect on binding to transferrin.
348	no significant effect on interaction with p.vivax rbp2b. no effect on binding to transferrin.
574	reduces interaction with p.vivax rbp2b. no effect on binding to transferrin.
578	no significant effect on interaction with p.vivax rbp2b. no effect on binding to transferrin.
619	20-fold reduced affinity for transferrin receptor. no binding to hfe.
622	no significant effect on binding to transferrin nor hfe.
623	no significant effect on binding to transferrin nor hfe.
629	>5-fold reduced affinity for transferrin. >10-fold reduced affinity for hfe.
640	no effect on binding to transferrin. >10-fold reduced affinity for hfe.

Function

Pathways and Gene Ontology

Reactome pathways

29 pathways

ID	Pathway
R-HSA-432722	Golgi Associated Vesicle Biogenesis
R-HSA-8856825	Cargo recognition for clathrin-mediated endocytosis
R-HSA-8856828	Clathrin-mediated endocytosis
R-HSA-8980692	RHOA GTPase cycle
R-HSA-9013026	RHOB GTPase cycle
R-HSA-9013106	RHOC GTPase cycle
R-HSA-9013148	CDC42 GTPase cycle
R-HSA-9013149	RAC1 GTPase cycle
R-HSA-9013404	RAC2 GTPase cycle
R-HSA-9013406	RHOQ GTPase cycle
R-HSA-9013407	RHOH GTPase cycle
R-HSA-9013408	RHOG GTPase cycle
R-HSA-9013409	RHOJ GTPase cycle
R-HSA-9013423	RAC3 GTPase cycle
R-HSA-917977	Transferrin endocytosis and recycling
R-HSA-9696270	RND2 GTPase cycle
R-HSA-9696273	RND1 GTPase cycle
R-HSA-9725554	Differentiation of Keratinocytes in Interfollicular Epidermis in Mammalian Skin
R-HSA-1266738	Developmental Biology
R-HSA-162582	Signal Transduction
R-HSA-194315	Signaling by Rho GTPases
R-HSA-199991	Membrane Trafficking
R-HSA-199992	trans-Golgi Network Vesicle Budding
R-HSA-382551	Transport of small molecules
R-HSA-5653656	Vesicle-mediated transport
R-HSA-9012999	RHO GTPase cycle
R-HSA-917937	Iron uptake and transport
R-HSA-9716542	Signaling by Rho GTPases, Miro GTPases and RHOBTB3
R-HSA-9734767	Developmental Cell Lineages

MSigDB gene sets: 708 (showing top): GOBP_MYELOID_CELL_DIFFERENTIATION, GOBP_REGULATION_OF_CELL_ACTIVATION, BROWNE_HCMV_INFECTION_4HR_UP, MODULE_52, GOBP_REGULATION_OF_DNA_RECOMBINATION, GOBP_REGULATION_OF_LEUKOCYTE_PROLIFERATION, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, GOBP_POSITIVE_REGULATION_OF_ADAPTIVE_IMMUNE_RESPONSE, SHIPP_DLBCL_VS_FOLLICULAR_LYMPHOMA_UP, GNF2_PRDX2, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, HARRIS_HYPOXIA, GOBP_CIRCULATORY_SYSTEM_PROCESS, PID_HNF3B_PATHWAY, GOBP_INFLAMMATORY_RESPONSE

GO Biological Process (32): response to hypoxia (GO:0001666), iron ion transport (GO:0006826), intracellular iron ion homeostasis (GO:0006879), receptor-mediated endocytosis (GO:0006898), acute-phase response (GO:0006953), cell surface receptor signaling pathway (GO:0007166), response to nutrient (GO:0007584), response to iron ion (GO:0010039), response to manganese ion (GO:0010042), positive regulation of gene expression (GO:0010628), negative regulation of mitochondrial fusion (GO:0010637), osteoclast differentiation (GO:0030316), positive regulation of B cell proliferation (GO:0030890), positive regulation of protein-containing complex assembly (GO:0031334), receptor internalization (GO:0031623), response to retinoic acid (GO:0032526), transferrin transport (GO:0033572), intracellular signal transduction (GO:0035556), positive regulation of T cell proliferation (GO:0042102), negative regulation of apoptotic process (GO:0043066), positive regulation of canonical NF-kappaB signal transduction (GO:0043123), positive regulation of isotype switching (GO:0045830), response to copper ion (GO:0046688), multicellular organismal-level iron ion homeostasis (GO:0060586), cellular response to xenobiotic stimulus (GO:0071466), regulation of postsynaptic membrane neurotransmitter receptor levels (GO:0099072), transport across blood-brain barrier (GO:0150104), positive regulation of protein localization to nucleus (GO:1900182), cellular response to leukemia inhibitory factor (GO:1990830), endocytosis (GO:0006897), signal transduction (GO:0007165), symbiont entry into host cell (GO:0046718)

GO Molecular Function (11): virus receptor activity (GO:0001618), RNA binding (GO:0003723), double-stranded RNA binding (GO:0003725), transferrin receptor activity (GO:0004998), protein kinase binding (GO:0019901), Hsp70 protein binding (GO:0030544), identical protein binding (GO:0042802), protein homodimerization activity (GO:0042803), protein-containing complex binding (GO:0044877), protein binding (GO:0005515), protein-folding chaperone binding (GO:0051087)

GO Cellular Component (24): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), endosome (GO:0005768), early endosome (GO:0005769), plasma membrane (GO:0005886), clathrin-coated pit (GO:0005905), external side of plasma membrane (GO:0009897), cell surface (GO:0009986), endosome membrane (GO:0010008), membrane (GO:0016020), basolateral plasma membrane (GO:0016323), clathrin-coated endocytic vesicle membrane (GO:0030669), cytoplasmic vesicle (GO:0031410), melanosome (GO:0042470), perinuclear region of cytoplasm (GO:0048471), recycling endosome (GO:0055037), recycling endosome membrane (GO:0055038), extracellular exosome (GO:0070062), blood microparticle (GO:0072562), postsynaptic recycling endosome membrane (GO:0098944), glutamatergic synapse (GO:0098978), extracellular vesicle (GO:1903561), HFE-transferrin receptor complex (GO:1990712), postsynapse (GO:0098794)

Reactome top-level categories

Rollup of top-6 pathways:

Category	Pathways
RHO GTPase cycle	13
trans-Golgi Network Vesicle Budding	1
Clathrin-mediated endocytosis	1
Membrane Trafficking	1
Iron uptake and transport	1
Developmental Cell Lineages of the Integumentary System	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	5
endosome	3
signal transduction	2
response to metal ion	2
positive regulation of lymphocyte proliferation	2
protein binding	2
binding	2
endomembrane system	2
membrane	2
cytoplasm	2
response to stress	1
response to decreased oxygen levels	1
transition metal ion transport	1
intracellular monoatomic cation homeostasis	1
inorganic ion homeostasis	1
endocytosis	1
acute inflammatory response	1
response to nutrient levels	1
response to chemical	1
gene expression	1
regulation of gene expression	1
positive regulation of macromolecule biosynthetic process	1
mitochondrial fusion	1
regulation of mitochondrial fusion	1
negative regulation of organelle organization	1
negative regulation of developmental process	1
myeloid leukocyte differentiation	1
regulation of B cell proliferation	1
B cell proliferation	1
positive regulation of B cell activation	1
regulation of protein-containing complex assembly	1
positive regulation of cellular component biogenesis	1
positive regulation of cellular component organization	1
protein-containing complex assembly	1
receptor-mediated endocytosis	1
response to lipid	1
response to oxygen-containing compound	1
iron ion transport	1
protein transport	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

5578 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TFRC	HFE	Q30201	999
TFRC	HJV	Q6ZVN8	982
TFRC	SLC11A2	P49281	957
TFRC	B2M	P01884	954
TFRC	FTH1	P02794	945
TFRC	HSPA8	P11142	940
TFRC	SLC40A1	Q9NP59	937
TFRC	HAMP	P81172	933
TFRC	RAB5A	P20339	930
TFRC	IREB2	P48200	913
TFRC	EEA1	Q15075	913
TFRC	PTPRC	P08575	888
TFRC	ACO1	P21399	886
TFRC	LTF	P02788	880
TFRC	RAB11A	P24410	869

IntAct

356 interactions, top by confidence:

A	B	Type	Score
TFRC	TF	psi-mi:“MI:0407”(direct interaction)	0.850
TSPAN15	ADAM10	psi-mi:“MI:0914”(association)	0.840
TSPAN5	ADAM10	psi-mi:“MI:0914”(association)	0.800
	TFRC	psi-mi:“MI:0914”(association)	0.780
	TFRC	psi-mi:“MI:0407”(direct interaction)	0.780
	TFRC	psi-mi:“MI:0915”(physical association)	0.780
CD9	ADAM10	psi-mi:“MI:0914”(association)	0.750
TSPAN14	ADAM10	psi-mi:“MI:0914”(association)	0.740
TFRC	TFRC	psi-mi:“MI:0407”(direct interaction)	0.730
SGTA	TFRC	psi-mi:“MI:0915”(physical association)	0.720
TFRC	SGTA	psi-mi:“MI:0915”(physical association)	0.720

BioGRID (791): TFRC (Affinity Capture-MS), TFRC (Affinity Capture-Western), TFRC (Two-hybrid), TFRC (Affinity Capture-RNA), TFRC (Affinity Capture-MS), TFRC (Affinity Capture-MS), TFRC (Affinity Capture-MS), TFRC (Affinity Capture-RNA), TFRC (Affinity Capture-MS), TFRC (Affinity Capture-MS), TFRC (Proximity Label-MS), TFRC (Proximity Label-MS), TFRC (Proximity Label-MS), TFRC (Proximity Label-MS), TFRC (Proximity Label-MS)

ESM2 similar proteins: A0A8I3NGV2, A2VE47, A4IG72, A7E2V1, D3Z2R5, F1PCT7, O43909, P02786, P04844, P25235, P57716, Q07891, Q0VCN6, Q28120, Q28DV7, Q2V905, Q5R9Q9, Q5RBM1, Q5RDH6, Q5XIA1, Q5ZJH2, Q5ZL00, Q62351, Q64255, Q6DDX8, Q6NZ07, Q7TMC8, Q8BXQ2, Q8C7X2, Q8CGU6, Q8K224, Q8N766, Q8N961, Q8R553, Q8VCM8, Q8VDL4, Q92542, Q969N2, Q969V3, Q99JH7

Diamond homologs: A0A1D6L709, B2GUY2, O54697, P02786, P47161, Q07891, Q2V905, Q5RDH6, Q62351, Q7M758, Q7Y228, Q8HZV3, Q90997, Q99376, Q9GLD3, Q9JKX3, Q9M1S8, Q9MYZ3, Q9UP52, O43023, P0DD34, P0DD35, P15926, P58099, Q5X9R0, Q8NZ80, C5FTZ6, O31788, P04072, P11018, P25152, P29139, P29141, P58502, P72186, Q45670, Q5JIZ5, Q5RLZ1, Q8L7I2, Q93LQ6

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
SH3BP4	down-regulates	TFRC	binding
iron(3+)	“up-regulates quantity”	TFRC	relocalization

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 142 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Neutrophil degranulation	17	5.0×	2e-05

Disease & clinical

Cancer significance

From intOGen — cancer-driver classification: activating (oncogene-like) across 2 cancer types — NSCLC, PRAD.

Clinical variants and AI predictions

ClinVar

734 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	333
Likely benign	306
Benign	57

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
587621	NM_001128148.3(TFRC):c.1198+1G>T	Pathogenic

SpliceAI

2782 predictions. Top by Δscore:

Variant	Effect	Δscore
3:196053413:CTT:C	donor_loss	1.0000
3:196053414:TTACT:T	donor_loss	1.0000
3:196053415:TACTC:T	donor_loss	1.0000
3:196053416:A:AC	donor_gain	1.0000
3:196053416:ACT:A	donor_gain	1.0000
3:196053416:ACTCT:A	donor_gain	1.0000
3:196053417:C:CC	donor_gain	1.0000
3:196053417:CT:C	donor_gain	1.0000
3:196053417:CTC:C	donor_gain	1.0000
3:196053417:CTCT:C	donor_gain	1.0000
3:196053417:CTCTC:C	donor_gain	1.0000
3:196053554:ATTTC:A	acceptor_gain	1.0000
3:196053555:TTTC:T	acceptor_gain	1.0000
3:196053556:TTC:T	acceptor_gain	1.0000
3:196053557:TC:T	acceptor_gain	1.0000
3:196053558:CC:C	acceptor_gain	1.0000
3:196053559:C:CA	acceptor_loss	1.0000
3:196053559:C:CC	acceptor_gain	1.0000
3:196055075:CTCA:C	donor_loss	1.0000
3:196055076:TCACC:T	donor_loss	1.0000
3:196055077:CA:C	donor_loss	1.0000
3:196055078:ACC:A	donor_loss	1.0000
3:196055079:C:CA	donor_loss	1.0000
3:196055302:C:CC	acceptor_gain	1.0000
3:196055302:CTG:C	acceptor_loss	1.0000
3:196055303:T:C	acceptor_loss	1.0000
3:196058279:CTTA:C	donor_loss	1.0000
3:196058280:TTAC:T	donor_loss	1.0000
3:196058281:TACCT:T	donor_loss	1.0000
3:196058283:C:CA	donor_loss	1.0000

AlphaMissense

5013 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:196062902:A:C	S452R	0.998
3:196062902:A:T	S452R	0.998
3:196062904:T:G	S452R	0.998
3:196060219:G:C	S499R	0.997
3:196060219:G:T	S499R	0.997
3:196060221:T:G	S499R	0.997
3:196062901:A:G	W453R	0.997
3:196062901:A:T	W453R	0.997
3:196062862:A:G	W466R	0.995
3:196062862:A:T	W466R	0.995
3:196053504:C:G	A652P	0.994
3:196062917:G:C	S447R	0.994
3:196062917:G:T	S447R	0.994
3:196062919:T:G	S447R	0.994
3:196068121:C:G	A271P	0.994
3:196051989:C:G	A746P	0.993
3:196052132:C:G	R698P	0.993
3:196071414:A:C	S223R	0.993
3:196071414:A:T	S223R	0.993
3:196071416:T:G	S223R	0.993
3:196055268:C:G	D571H	0.992
3:196058315:C:T	G549E	0.992
3:196062858:A:G	L467P	0.992
3:196068120:G:T	A271D	0.992
3:196052007:A:G	W740R	0.991
3:196052007:A:T	W740R	0.991
3:196053524:G:T	A645D	0.991
3:196058315:C:A	G549V	0.991
3:196065517:A:G	L375P	0.991
3:196067619:G:C	F313L	0.991

dbSNP variants (sampled 300 via entrez): RS1000045371 (3:196077615 G>C,T), RS1000136901 (3:196083133 G>A), RS1000309791 (3:196055689 C>T), RS1000313363 (3:196050162 G>C), RS1000445275 (3:196055865 T>C), RS1000623229 (3:196049904 T>C), RS1000642404 (3:196054163 G>A), RS1000778086 (3:196054380 G>C,T), RS1000851863 (3:196056420 T>TA), RS1001017361 (3:196050237 C>T), RS1001058921 (3:196050650 T>TA), RS1001133331 (3:196065819 G>A), RS1001352622 (3:196077901 C>A,T), RS1001600526 (3:196072456 A>T), RS1001638944 (3:196083372 C>T)

Disease associations

OMIM: gene MIM:190010 | disease phenotypes: MIM:616740

GenCC curated gene-disease

Disease	Classification	Inheritance
TFRC-related combined immunodeficiency	Definitive	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
TFRC-related combined immunodeficiency	Definitive	AR

Mondo (3): TFRC-related combined immunodeficiency (MONDO:0014760), combined immunodeficiency (MONDO:0015131), hereditary breast ovarian cancer syndrome (MONDO:0003582)

Orphanet (3): Combined immunodeficiency due to TFRC deficiency (Orphanet:476113), Combined T and B cell immunodeficiency (Orphanet:101972), Hereditary breast and/or ovarian cancer syndrome (Orphanet:145)

HPO phenotypes

13 total (13 of 13 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000509	Conjunctivitis
HP:0001287	Meningitis
HP:0001508	Failure to thrive
HP:0001875	Decreased total neutrophil count
HP:0001903	Anemia
HP:0002028	Chronic diarrhea
HP:0002721	Immunodeficiency
HP:0004313	Decreased circulating immunoglobulin concentration
HP:0004854	Intermittent thrombocytopenia
HP:0005425	Recurrent sinopulmonary infections
HP:0009098	Chronic oral candidiasis
HP:0100806	Sepsis

GWAS associations

41 associations (top):

Study	Trait	p-value
GCST000503_5	Mean corpuscular volume	8.000000e-14
GCST000504_4	Mean corpuscular hemoglobin	8.000000e-13
GCST000585_5	Mean corpuscular volume	2.000000e-08
GCST000587_3	Mean corpuscular hemoglobin	4.000000e-11
GCST001350_2	Pancreatic cancer	2.000000e-07
GCST001765_42	Red blood cell traits	7.000000e-19
GCST002678_3	Iron status biomarkers (transferrin levels)	2.000000e-13
GCST002680_2	Iron status biomarkers (transferrin saturation)	7.000000e-08
GCST004334_5	Mean corpuscular hemoglobin	2.000000e-08
GCST004335_2	Mean corpuscular volume	5.000000e-06
GCST004602_140	Mean corpuscular volume	2.000000e-74
GCST004611_55	High light scatter reticulocyte count	3.000000e-09
GCST004612_62	High light scatter reticulocyte percentage of red cells	8.000000e-15
GCST004619_211	Reticulocyte fraction of red cells	1.000000e-13
GCST004621_144	Red cell distribution width	4.000000e-64
GCST004621_145	Red cell distribution width	6.000000e-40
GCST004630_130	Mean corpuscular hemoglobin	1.000000e-83
GCST005992_5	Mean corpuscular hemoglobin concentration	1.000000e-16
GCST006804_23	Red cell distribution width	2.000000e-51
GCST007798_61	Asthma	4.000000e-10
GCST007799_15	Asthma (adult onset)	3.000000e-10
GCST008821_9	Neurofibrillary tangles	3.000000e-06
GCST009798_62	Asthma	2.000000e-07
GCST010083_283	Hemoglobin levels	1.000000e-09
GCST010118_32	Type 2 diabetes	2.000000e-09
GCST011366_6	Iron status biomarkers (transferrin saturation)	2.000000e-08
GCST011368_13	Iron status biomarkers (total iron binding capacity)	6.000000e-11
GCST012489_25	Heel bone mineral density x serum urate levels interaction	2.000000e-10
GCST90002384_130	Hemoglobin	3.000000e-12
GCST90002385_241	High light scatter reticulocyte count	2.000000e-25

EFO canonical traits (14, from GWAS)

EFO ID	Trait name
EFO:0004527	mean corpuscular hemoglobin
EFO:0004509	hemoglobin measurement
EFO:0004461	iron biomarker measurement
EFO:0006341	transferrin measurement
EFO:0006333	transferrin saturation measurement
EFO:0007986	reticulocyte count
EFO:0009188	Red cell distribution width
EFO:0004528	mean corpuscular hemoglobin concentration
EFO:1002011	adult onset asthma
EFO:0006797	neurofibrillary tangles measurement
EFO:0006334	total iron binding capacity
EFO:0004531	urate measurement
EFO:0009270	heel bone mineral density
EFO:0010701	mean reticulocyte volume

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D061325	Hereditary Breast and Ovarian Cancer Syndrome	C04.588.180.483; C04.588.322.455.431; C04.700.517; C12.050.351.500.056.630.705.431; C12.050.351.937.418.685.431; C12.100.250.056.630.705.431; C12.900.418.685.431; C16.320.700.517; C17.800.090.500.483; C19.344.410.431; C19.391.630.705.431

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (2): CHEMBL3712860 (SINGLE PROTEIN), CHEMBL3988361 (PROTEIN FAMILY)

PharmGKB: 1 entry (VIP=true, CPIC=false)

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: other protein — CD molecules

Most potent curated ligand interactions (1 total), top 1:

Ligand	Action	Affinity	Parameter
delpacibart	Binding	11.0	pKd

ChEMBL bioactivities

4 potent at pChembl≥5 of 4 total, top 4 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
7.00	Kd	100.3	nM	CHEMBL3752910
7.00	ED50	100.3	nM	CHEMBL3752910
5.13	Kd	7336	nM	CHEMBL5653589
5.13	ED50	7336	nM	CHEMBL5653589

PubChem BioAssay actives

2 with measured affinity, of 4 total; 2 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149577: Binding affinity to human TFRC incubated for 45 mins by Kinobead based pull down assay	kd	0.1003	uM
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149577: Binding affinity to human TFRC incubated for 45 mins by Kinobead based pull down assay	kd	7.3358	uM

CTD chemical–gene interactions

210 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Iron	decreases abundance, decreases uptake, increases uptake, decreases reaction, increases abundance (+3 more)	9
sodium arsenite	increases abundance, increases expression, decreases expression, affects cotreatment	7
Deferoxamine	decreases abundance, increases expression	6
Cyclosporine	decreases expression	5
Hemin	decreases abundance, increases expression, decreases expression, increases reaction	4
Tretinoin	decreases expression, increases reaction, increases expression	4
Valproic Acid	affects reaction, increases expression, decreases expression	4
deoxynivalenol	decreases expression, increases expression	3
ferric ammonium citrate	decreases abundance, increases expression, decreases expression	3
cobaltous chloride	decreases abundance, increases expression, decreases expression	3
ferrostatin-1	decreases reaction, affects reaction, increases expression	3
Arsenic Trioxide	decreases expression, increases expression	3
Cisplatin	decreases expression, decreases reaction, affects cotreatment, increases expression	3
Estradiol	increases expression	3
Oxygen	decreases abundance, increases expression, decreases expression	3
Quercetin	decreases reaction, increases expression, affects cotreatment, decreases expression	3
Smoke	decreases expression, increases expression	3
ferrous sulfate	decreases expression	2
ferric citrate	decreases reaction, increases expression	2
hydroquinone	increases expression, decreases expression, increases reaction, decreases reaction	2
yessotoxin	increases expression	2
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	increases expression, affects cotreatment, decreases expression	2
erastin	increases expression, increases reaction	2
dorsomorphin	decreases expression, affects cotreatment	2
Resveratrol	decreases expression, increases expression	2
Air Pollutants	increases abundance, increases oxidation, increases expression, affects cotreatment	2
Ethanol	decreases reaction, increases expression	2
Arsenic	increases abundance, increases expression, affects cotreatment	2
Cannabidiol	decreases expression, increases expression	2
Cocaine	increases expression	2

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5652619	Binding	Binding affinity to human TFRC incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Cellosaurus cell lines

5 cell lines: 2 cancer cell line, 2 spontaneously immortalized cell line, 1 transformed cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_D8C8	Ubigene A-549 TFRC KO	Cancer cell line	Male
CVCL_D9U4	Ubigene HEK293 TFRC KO	Transformed cell line	Female
CVCL_E6RY	Genomeditech CHO-K1 H_TFRC(CD71)	Spontaneously immortalized cell line	Female
CVCL_U420	CHO-TRVb	Spontaneously immortalized cell line	Female
CVCL_YL24	Hs578T-delta-hTfR1	Cancer cell line	Female

Clinical trials (associated diseases)

55 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT02562170	PHASE4	COMPLETED	Protexa® Versus TiLoopBra® in Immediate Breast Reconstruction- A Pilot Study
NCT00673335	PHASE3	COMPLETED	Letrozole in Preventing Breast Cancer in Postmenopausal Women With a BRCA1 or BRCA2 Mutation
NCT00685256	PHASE3	COMPLETED	Standard Genetic Counseling With or Without a Decision Guide in Improving Communication Between Mothers Undergoing BRCA1/2 Testing and Their Minor-Age Children
NCT03162276	PHASE3	UNKNOWN	Trial of Inquiry Based Stress Reduction (IBSR) Program for BRCA1/2 Mutation Carriers
NCT02737384	PHASE2	TERMINATED	Hematopoietic Stem Cells Transplantation in Children With Combined Immunodeficiency (CID)
NCT00253539	PHASE2	COMPLETED	Arzoxifene or Tamoxifen in Preventing Breast Cancer in Premenopausal Women at High Risk for Breast Cancer
NCT00305695	PHASE2	COMPLETED	Zoledronate or Observation in Maintaining Bone Mineral Density in Patients Who Are Undergoing Surgery to Remove Both Ovaries
NCT00321633	PHASE2	COMPLETED	Carboplatin or Docetaxel in Treating Women With Metastatic Genetic Breast Cancer
NCT01333748	PHASE2	COMPLETED	Search Allelic Imbalance of Expression of BRCA Genes in Hereditary Risk of Breast and/or Ovarian Cancer
NCT01367639	PHASE2	COMPLETED	Trial of Inquiry Based Stress Reduction (IBSR) Program for BRCA1/2 Mutation Carriers
NCT00535119	PHASE1	COMPLETED	Veliparib, Carboplatin, and Paclitaxel in Treating Patients With Advanced Solid Cancer
NCT00892736	PHASE1	COMPLETED	Veliparib in Treating Patients With Malignant Solid Tumors That Do Not Respond to Previous Therapy
NCT02915406	Not specified	NO_LONGER_AVAILABLE	cliniMACs HUD for T Cell Depletion
NCT04902807	Not specified	RECRUITING	Conception of a Diagnosis, Prognosis and Therapeutic Decision Tool for Patients With Autoimmunity and Inflammation
NCT06659588	Not specified	RECRUITING	Study of Populations at Risk of Developing Chronic Hepatitis Linked to Chronic Enteric Virus Infection in Patients With Primary Immunodeficiency and Secondary Humoral Deficiency
NCT03832985	EARLY_PHASE1	COMPLETED	Pediatric Reporting of Adult-Onset Genomic Results
NCT00005095	Not specified	RECRUITING	Specimen and Data Study for Ovarian Cancer Early Detection and Prevention
NCT00609505	Not specified	COMPLETED	Telemedicine vs. Face-to-Face Cancer Genetic Counseling
NCT01273909	Not specified	UNKNOWN	Outcomes After Perforator Flap Reconstruction for Breast Reconstruction and/or Lymphedema Treatment
NCT01445275	Not specified	WITHDRAWN	Cost of Cancer Risk Management in Women at Elevated Genetic Risk for Ovarian Cancer Who Participated on GOG-0199
NCT01608074	Not specified	ACTIVE_NOT_RECRUITING	Radical Fimbriectomy for Young BRCA Mutation Carriers
NCT02087592	Not specified	COMPLETED	Feasibility of Lifestyle Intervention in BRCA1/2 Mutation Carriers
NCT02302742	Not specified	RECRUITING	Triple Negative Breast Cancer and Germline Hereditary Breast and Ovarian Cancer Mutation Carrier Registry
NCT02324062	Not specified	COMPLETED	Cancer Genetics Hereditary Cancer Panel Testing
NCT02516540	Not specified	UNKNOWN	Efficacy of Lifestyle Intervention in BRCA1/2 Mutation Carriers
NCT02653105	Not specified	ACTIVE_NOT_RECRUITING	Women at Risk of Breast Cancer and OLFM4
NCT02705924	Not specified	TERMINATED	Impact of a Psychoeducational Intervention on Expectations and Coping in Young Women Exposed to a High HBOC Risk
NCT02760849	Not specified	ACTIVE_NOT_RECRUITING	Surgery in Preventing Ovarian Cancer in Patients With Genetic Mutations
NCT02786147	Not specified	COMPLETED	Identification and Referral of Women at Risk for Hereditary Breast/Ovarian Cancer
NCT02956681	Not specified	COMPLETED	Statewide Communication to Reach Diverse Low Income Women
NCT03015376	Not specified	UNKNOWN	Inherited Susceptible Genes Among Epithelial Ovarian Cancer
NCT03050268	Not specified	RECRUITING	Familial Investigations of Childhood Cancer Predisposition
NCT03075540	Not specified	COMPLETED	Enhancing At-risk Latina Women’s Use of Genetic Counseling for Hereditary Breast and Ovarian Cancer
NCT03124212	Not specified	RECRUITING	Cascade Genetic Testing for Hereditary Breast/Ovarian Cancer and Lynch Syndrome in Switzerland
NCT03246841	Not specified	ACTIVE_NOT_RECRUITING	Investigation of Tumour Spectrum of Germline Mutations in Breast and Ovarian Cancer Genes.
NCT03294343	Not specified	UNKNOWN	Risk-Reducing Surgeries for Hereditary Ovarian Cancer
NCT03421327	Not specified	COMPLETED	Genetic Risk: Whether, When, and How to Tell Adolescents
NCT03510689	Not specified	COMPLETED	Genetics and Heart Health After Cancer Therapy
NCT03511690	Not specified	COMPLETED	Testing an Intelligent Tutoring System to Enhance Genetic Risk Assessment
NCT03784859	Not specified	COMPLETED	Tissue Expansion in Breast Reconstruction Without Drains