Details for: TFR2

Gene ID: 7036

Symbol: TFR2

Ensembl ID: ENSG00000106327

Description: transferrin receptor 2

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: basophilic erythroblast (CL0000549)
    Fold Change: 32.0373
    Cell Significance Index: 14.5900
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 16.8741
    Cell Significance Index: -4.2800
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 10.8870
    Cell Significance Index: -5.1400
  • Cell Name: liver dendritic cell (CL2000055)
    Fold Change: 5.0418
    Cell Significance Index: 13.3000
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 3.9926
    Cell Significance Index: 67.2600
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.6367
    Cell Significance Index: 324.8000
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 1.3733
    Cell Significance Index: 19.6800
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 1.2760
    Cell Significance Index: -5.0400
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 1.1961
    Cell Significance Index: 38.3100
  • Cell Name: intrahepatic cholangiocyte (CL0002538)
    Fold Change: 1.0329
    Cell Significance Index: 3.8900
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.7248
    Cell Significance Index: 8.9900
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 0.6651
    Cell Significance Index: -0.8200
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 0.5765
    Cell Significance Index: 3.3200
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.4859
    Cell Significance Index: 10.6400
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.4573
    Cell Significance Index: 87.0300
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 0.4140
    Cell Significance Index: 6.1100
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.3463
    Cell Significance Index: 7.3800
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.3372
    Cell Significance Index: 33.3600
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.3361
    Cell Significance Index: 5.7600
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.3258
    Cell Significance Index: 8.7300
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 0.3257
    Cell Significance Index: 7.8100
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.3047
    Cell Significance Index: 18.7300
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.2591
    Cell Significance Index: 51.9700
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.2524
    Cell Significance Index: 13.2500
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.2185
    Cell Significance Index: 197.3100
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 0.2010
    Cell Significance Index: 3.3800
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.1856
    Cell Significance Index: 66.5700
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.1833
    Cell Significance Index: 19.9400
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.1822
    Cell Significance Index: 10.9400
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.1672
    Cell Significance Index: 27.2000
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.0741
    Cell Significance Index: 5.1300
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.0641
    Cell Significance Index: 1.7900
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.0433
    Cell Significance Index: 1.6400
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.0389
    Cell Significance Index: 1.7200
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0379
    Cell Significance Index: 26.2000
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 0.0355
    Cell Significance Index: 0.3500
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.0348
    Cell Significance Index: 0.9300
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.0285
    Cell Significance Index: 1.8400
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0250
    Cell Significance Index: 0.8800
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0237
    Cell Significance Index: 4.2700
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.0175
    Cell Significance Index: 2.0400
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.0148
    Cell Significance Index: 0.9300
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.0145
    Cell Significance Index: 0.1200
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0125
    Cell Significance Index: 0.3600
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0034
    Cell Significance Index: 5.2600
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.0018
    Cell Significance Index: 0.0400
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0017
    Cell Significance Index: 3.2000
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0016
    Cell Significance Index: 2.9400
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0012
    Cell Significance Index: 1.6800
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0010
    Cell Significance Index: -0.0600
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0029
    Cell Significance Index: -0.1300
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0032
    Cell Significance Index: -0.0800
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0035
    Cell Significance Index: -1.5600
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0052
    Cell Significance Index: -3.2900
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0055
    Cell Significance Index: -2.4800
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0062
    Cell Significance Index: -4.6200
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0068
    Cell Significance Index: -5.1200
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0071
    Cell Significance Index: -5.2200
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0072
    Cell Significance Index: -0.8900
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0073
    Cell Significance Index: -3.9700
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.0074
    Cell Significance Index: -0.0500
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0078
    Cell Significance Index: -4.8700
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0086
    Cell Significance Index: -4.8800
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0086
    Cell Significance Index: -0.5800
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0101
    Cell Significance Index: -1.4700
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0105
    Cell Significance Index: -0.1500
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.0126
    Cell Significance Index: -0.1900
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.0128
    Cell Significance Index: -0.1600
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0131
    Cell Significance Index: -3.7600
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0149
    Cell Significance Index: -1.9100
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: -0.0159
    Cell Significance Index: -0.1800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0187
    Cell Significance Index: -2.5700
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0196
    Cell Significance Index: -3.3500
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0223
    Cell Significance Index: -2.5500
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0245
    Cell Significance Index: -5.1500
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0267
    Cell Significance Index: -3.1500
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0273
    Cell Significance Index: -1.4200
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.0323
    Cell Significance Index: -0.6900
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0328
    Cell Significance Index: -1.8400
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0359
    Cell Significance Index: -2.5400
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0364
    Cell Significance Index: -4.7100
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.0374
    Cell Significance Index: -0.7500
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.0399
    Cell Significance Index: -1.1400
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.0405
    Cell Significance Index: -0.8400
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0412
    Cell Significance Index: -4.2100
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: -0.0448
    Cell Significance Index: -0.3500
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0453
    Cell Significance Index: -4.7200
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0498
    Cell Significance Index: -3.8200
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.0526
    Cell Significance Index: -1.0400
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -0.0535
    Cell Significance Index: -0.6800
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.0553
    Cell Significance Index: -1.3800
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.0569
    Cell Significance Index: -1.2300
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -0.0592
    Cell Significance Index: -0.6500
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0611
    Cell Significance Index: -2.0000
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0663
    Cell Significance Index: -4.9400
  • Cell Name: L6 intratelencephalic projecting glutamatergic neuron of the primary motor cortex (CL4023050)
    Fold Change: -0.0675
    Cell Significance Index: -0.9000
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0739
    Cell Significance Index: -3.4500
  • Cell Name: epidermal cell (CL0000362)
    Fold Change: -0.0754
    Cell Significance Index: -0.1700
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0766
    Cell Significance Index: -2.4400
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: -0.0775
    Cell Significance Index: -0.9400

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Structure:** TFR2 is a transmembrane receptor with two extracellular domains and two transmembrane domains, allowing it to bind to transferrin, a protein that transports iron in the bloodstream. 2. **Expression:** TFR2 is widely expressed in various cell types, including hepatocytes, erythroid progenitor cells, and intestinal epithelial cells. 3. **Function:** TFR2 mediates the endocytosis of transferrin, regulating iron uptake and homeostasis. It also participates in the transport of small molecules and plays a role in the regulation of post-synaptic membrane neurotransmitter receptor levels. **Pathways and Functions:** 1. **Iron Homeostasis:** TFR2 is essential for the regulation of iron uptake and homeostasis. It binds to transferrin, which carries iron from the bloodstream to cells, and facilitates its internalization. 2. **Endocytic Iron Import:** TFR2 is involved in the endocytosis of transferrin, allowing iron to be transported into cells. 3. **Co-receptor Binding:** TFR2 interacts with other co-receptors, such as CD63 and CD81, to form a complex that enhances transferrin binding. 4. **Regulation of Transcription:** TFR2 can regulate the transcription of genes involved in iron homeostasis and other cellular processes. 5. **Neurotransmitter Regulation:** TFR2 has been implicated in the regulation of post-synaptic membrane neurotransmitter receptor levels, suggesting its potential role in neurological disorders. **Clinical Significance:** 1. **Hemochromatosis:** Mutations in the TFR2 gene have been associated with hereditary hemochromatosis, a disorder characterized by excessive iron accumulation in the body. 2. **Anemia:** TFR2 plays a crucial role in iron homeostasis, and alterations in its function can lead to anemia. 3. **Neurological Disorders:** The involvement of TFR2 in neurotransmitter regulation suggests its potential role in neurological disorders, such as Parkinson's disease and Alzheimer's disease. 4. **Cancer:** TFR2 has been implicated in the regulation of iron homeostasis in cancer cells, suggesting its potential as a therapeutic target. In conclusion, the transferrin receptor 2 (TFR2) is a multifunctional protein that plays a critical role in iron homeostasis and beyond. Its dysregulation has been implicated in various diseases, highlighting its potential as a therapeutic target. Further research is needed to fully understand the mechanisms by which TFR2 regulates iron homeostasis and its role in different diseases.

Genular Protein ID: 1247812470

Symbol: TFR2_HUMAN

Name: Transferrin receptor protein 2

UniProtKB Accession Codes:

Q9UP52 A6NGM7 O75422 Q1HE13 Q9HA99 Q9NX67

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 2 CTD 1 ChEMBL 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 2 EMBL 7 Ensembl 2 ExpressionAtlas 1 GO 21 Gene3D 3 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 6 KEGG 1 MANE-Select 1 MEROPS 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 Pumba 1 RNAct 1 Reactome 1 RefSeq 4 SMR 1 STRING 1 SUPFAM 3 SignaLink 1 TCDB 2 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 10409623

Title: Molecular cloning of transferrin receptor 2: a new member of the transferrin receptor-like family.

PubMed ID: 10409623

DOI: 10.1074/jbc.274.30.20826

PubMed ID: 9799793

Title: Large-scale sequencing of two regions in human chromosome 7q22: analysis of 650 kb of genomic sequence around the EPO and CUTL1 loci reveals 17 genes.

PubMed ID: 9799793

DOI: 10.1101/gr.8.10.1060

PubMed ID: 12853948

Title: The DNA sequence of human chromosome 7.

PubMed ID: 12853948

DOI: 10.1038/nature01782

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 10802645

Title: The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22.

PubMed ID: 10802645

DOI: 10.1038/75534

PubMed ID: 19159218

Title: Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.

PubMed ID: 19159218

DOI: 10.1021/pr8008012

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 11313241

Title: New mutations inactivating transferrin 2 in hemochromatosis type 3.

PubMed ID: 11313241

DOI: 10.1182/blood.v97.9.2555

PubMed ID: 12130528

Title: Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: identification of a novel TfR2 mutation.

PubMed ID: 12130528

DOI: 10.1182/blood-2002-01-0133

PubMed ID: 12150153

Title: Mutation analysis of transferrin-receptor 2 in patients with atypical hemochromatosis.

PubMed ID: 12150153

DOI: 10.1182/blood-2002-04-1077

PubMed ID: 14633868

Title: Identification of new mutations of the HFE, hepcidin, and transferrin receptor 2 genes by denaturing HPLC analysis of individuals with biochemical indications of iron overload.

PubMed ID: 14633868

DOI: 10.1373/clinchem.2003.023440

Sequence Information:

  • Length: 801
  • Mass: 88755
  • Checksum: D3D3082BA835413A
  • Sequence:
    • MERLWGLFQR AQQLSPRSSQ TVYQRVEGPR KGHLEEEEED GEEGAETLAH FCPMELRGPE 
PLGSRPRQPN LIPWAAAGRR AAPYLVLTAL LIFTGAFLLG YVAFRGSCQA CGDSVLVVSE 
DVNYEPDLDF HQGRLYWSDL QAMFLQFLGE GRLEDTIRQT SLRERVAGSA GMAALTQDIR 
AALSRQKLDH VWTDTHYVGL QFPDPAHPNT LHWVDEAGKV GEQLPLEDPD VYCPYSAIGN 
VTGELVYAHY GRPEDLQDLR ARGVDPVGRL LLVRVGVISF AQKVTNAQDF GAQGVLIYPE 
PADFSQDPPK PSLSSQQAVY GHVHLGTGDP YTPGFPSFNQ TQFPPVASSG LPSIPAQPIS 
ADIASRLLRK LKGPVAPQEW QGSLLGSPYH LGPGPRLRLV VNNHRTSTPI NNIFGCIEGR 
SEPDHYVVIG AQRDAWGPGA AKSAVGTAIL LELVRTFSSM VSNGFRPRRS LLFISWDGGD 
FGSVGSTEWL EGYLSVLHLK AVVYVSLDNA VLGDDKFHAK TSPLLTSLIE SVLKQVDSPN 
HSGQTLYEQV VFTNPSWDAE VIRPLPMDSS AYSFTAFVGV PAVEFSFMED DQAYPFLHTK 
EDTYENLHKV LQGRLPAVAQ AVAQLAGQLL IRLSHDRLLP LDFGRYGDVV LRHIGNLNEF 
SGDLKARGLT LQWVYSARGD YIRAAEKLRQ EIYSSEERDE RLTRMYNVRI MRVEFYFLSQ 
YVSPADSPFR HIFMGRGDHT LGALLDHLRL LRSNSSGTPG ATSSTGFQES RFRRQLALLT 
WTLQGAANAL SGDVWNIDNN F

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.