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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

TFRC Gene

protein-coding GIFtS: 70
GCID: GC03M195754

transferrin receptor (p90, CD71)

Explore 162 diseases affiliated with
TFRC via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Transferrin Receptor (P90, CD71)¹ ²		TRFR²
CD71¹ ² ⁵		Transferrin Receptor Protein 1²
TFR1¹ ²		TfR³
T9² ³		TfR1³
TR² ³		Trfr³
P90¹		CD71 Antigen³
TFR² ⁵

External Ids:	HGNC: 11763¹	Entrez Gene: 7037²	Ensembl: ENSG00000072274⁷	OMIM: 190010⁵	UniProtKB: P02786³

Export aliases for TFRC gene to outside databases

Previous GC identifers: GC03M191708 GC03M195991 GC03M197183 GC03M197102 GC03M197264 GC03M193076

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: TFR1_HUMAN, P02786

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 (By

similarity). A second ligand, the heditary hemochromatosis protein HFE, competes for binding with transferrin for an

overlapping C-terminal binding site

Gene Wiki entry for TFRC

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000003.11 NC_018914.1 NT_029928.13

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the TFRC gene promoter:
AP-2alpha isoform 3 AP-2alpha isoform 4 AP-2alpha isoform 2 Nkx2-5 AP-2alpha
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): TFRC promoter sequence

Search SABiosciences Chromatin IP Primers for TFRC

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TFRC

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3q29 Ensembl cytogenetic band: 3q29 HGNC cytogenetic band: 3q26.2-qter

TFRC Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TFRC gene location

GeneLoc information about chromosome 3 GeneLoc Exon Structure

GeneLoc location for GC03M195754: view genomic region (about GC identifiers)

Start:	195,754,054 bp from pter	End:	195,809,060 bp from pter
Size:	55,007 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: TFR1_HUMAN, P02786 (See protein sequence)

Recommended Name: Transferrin receptor protein 1

Size: 760 amino acids; 84871 Da

Subunit: Homodimer; disulfide-linked. Binds one transferrin or HFE molecule per subunit. Binds the HLA class II

histocompatibility antigen, DR1. Interacts with SH3BP3. Interacts with Machupo arenavirus GPC

Subcellular location: Cell membrane; Single-pass type II membrane protein. Melanosome. Note=Identified by mass

spectrometry in melanosome fractions from stage I to stage IV

Subcellular location: Transferrin receptor protein 1, serum form: Secreted

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

Miscellaneous: Canine and feline parvoviruses bind human and feline transferrin receptors and use these receptors to

enter and infect cells

Sequence caution: Sequence=BAD92491.1; Type=Erroneous initiation;

6/8 PDB 3D structures from and Proteopedia for TFRC (see all 8):

1CX8 (3D)

1DE4 (3D)

1SUV (3D)

2NSU (3D)

3KAS (3D)

3S9L (3D)

Secondary accessions: D3DXB0 Q1HE24 Q59G55 Q9UCN0 Q9UCU5 Q9UDF9 Q9UK21

Explore the universe of human proteins at neXtProt for TFRC: NX_P02786

Post-translational modifications:

N- and O-glycosylated, phosphorylated and palmitoylated. The serum form is only glycosylated¹

Proteolytically cleaved on Arg-100 to produce the soluble serum form (sTfR)¹

Palmitoylated on both Cys-62 and Cys-67. Cys-62 seems to be the major site of palmitoylation¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P02786

TFRC Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001121620.1 NP_003225.2

ENSEMBL proteins:

ENSP00000414015 ENSP00000390133 ENSP00000353224 ENSP00000376197 ENSP00000402839

ENSP00000437753 ENSP00000443913

Reactome Protein details: P02786
Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
	R&D Systems Recombinant & Natural Proteins for TFRC (TfR (Transferrin R))
	Browse recombinant and purified proteins available from Enzo Life Sciences
	OriGene Purified Proteins (see all 2): TFRC OriGene Protein Over-expression Lysate (see all 2): TFRC OriGene Custom Protein Services for TFRC
	GenScript Custom Purified and Recombinant Proteins Services for TFRC
	Novus Biologicals TFRC Proteins Novus Biologicals TFRC Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for TFRC

Gene Ontology (GO): 5/14 cellular component terms (GO ID links to tree view) (see all 14): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	IDA	1871153
GO:0005739	mitochondrion	--	--
GO:0005768	endosome	IDA	14612438
GO:0005886	plasma membrane	TAS	--
GO:0005887	integral to plasma membrane	TAS	6090955

TFRC for ontologies About GeneDecksing

TFRC Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of TFRC
	R&D Systems Antibodies for TFRC (TfR (Transferrin R))
	OriGene Antibodies (see all 5): TFRC OriGene Custom Antibody Services for TFRC
	GenScript Custom Superior Antibodies Services for TFRC
	Novus Biologicals TFRC Antibodies
	Abcam antibodies for TFRC
	Uscn Antibodies for TFRC
	ThermoFisher Antibody for TFRC

Assay Products for TFRC:

	EMD Millipore Kits and Assays for the Analysis of TFRC
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	R&D Systems ELISAs for TFRC (TfR (Transferrin R))
	GenScript Custom Assay Services for TFRC
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for TFRC

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

TFRC for domains About GeneDecksing

3 InterPro domains/families:

IPR007484 Peptidase_M28

IPR007365 TFR-like_dimer_dom

IPR003137 Protease-assoc_domain

Graphical View of Domain Structure for InterPro Entry P02786

ProtoNet protein and cluster: P02786

3 Blocks protein families:

IPB003137 Protease-associated PA

IPB007365 Transferrin receptor-like dimerisation domain

IPB007484 Peptidase family M28

UniProtKB/Swiss-Prot: TFR1_HUMAN, P02786

Similarity: Belongs to the peptidase M28 family. M28B subfamily

Similarity: Contains 1 PA (protease associated) domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: TFR1_HUMAN, P02786

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 (By

similarity). A second ligand, the heditary hemochromatosis protein HFE, competes for binding with transferrin for an

overlapping C-terminal binding site

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

Genatlas biochemistry entry for TFRC:

transferrin receptor (p90),involved in the development of erythrocytes and the nervous system

miRNA Products:		miRTarBase miRNAs that target TFRC: hsa-mir-200a (MIRT004549), hsa-mir-320a (MIRT003744), hsa-mir-22 (MIRT004538)

		OriGene 3'-UTR Clone (see all 2): TFRC Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TFRC
		8/82 QIAGEN miScript miRNA Assays for microRNAs that regulate TFRC (see all 82):
		hsa-miR-323-3p hsa-miR-582-3p hsa-miR-140-5p hsa-miR-200a hsa-miR-3142 hsa-miR-1243 hsa-miR-4273 hsa-miR-374b*

		SwitchGear 3'UTR luciferase reporter plasmid: TFRC 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TFRC (see all 4) OriGene shRNA RFP: TFRC OriGene siRNA: TFRC
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TFRC

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for TFRC

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TFRC (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TFRC (see all 4) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): TFRC (NM_003234)
		Sino Biological Human cDNA Clone for TFRC
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for TFRC
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TFRC

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for TFRC
		Search LifeMap BioReagents cell lines for TFRC

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TFRC

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004998	transferrin receptor activity	NAS	1871153
GO:0008233	peptidase activity	IEA	--
GO:0030544	Hsp70 protein binding	--	--
GO:0051087	chaperone binding	--	--

TFRC for ontologies About GeneDecksing

3 GenomeRNAi human phenotypes for TFRC:

Increased cell death in HCT116

Increased gamma-H2AX phosphory

Upregulation of Wnt/beta-caten

Animal Models:
Mouse knock-out Tfrc^tm1Nca for TFRC
12 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Tfrc):

cardiovascular system	cellular	digestive/alimentary	embryogenesis	growth/size
hematopoietic system	homeostasis/metabolism	immune system	integument	liver/biliary system
mortality/aging	nervous system

TFRC for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/12 super-pathways (see all 12) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Clathrin derived vesicle budding

	Clathrin derived vesicle budding	1.00			Golgi Associated Vesicle Biogenesis	0.89
	trans-Golgi Network Vesicle Budding	1.00

Insulin receptor recycling

Transferrin endocytosis and recycling

0.79

Iron uptake and transport

0.56

Membrane Trafficking

Membrane Trafficking

1.00

iron metabolism in placenta

iron metabolism in placenta

1.00

AMPK Enzyme Complex Pathway

AMPK Enzyme Complex Pathway

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for TFRC

AMPK Enzyme Complex Pathway

4 BioSystems Pathways for TFRC

	iron metabolism in placenta
	FOXA2 and FOXA3 transcription factor networks
	Validated targets of C-MYC transcriptional activation
	HIF-1-alpha transcription factor network

5/7 Reactome Pathways for TFRC (see all 7)

	Transmembrane transport of small molecules
	Membrane Trafficking
	Clathrin derived vesicle budding
	Golgi Associated Vesicle Biogenesis
	trans-Golgi Network Vesicle Budding

3 Kegg Pathways (Kegg details for TFRC):

	Endocytosis
	Phagosome
	Hematopoietic cell lineage

TFRC for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for TFRC

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/104 Interacting proteins for TFRC (P02786^{2, 3} ENSP00000353224⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 104)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
SH3BP4	Q9P0V3²^,³, ENSP00000340237⁴	MINT-7160681 MINT-7183598 MINT-7159892 MINT-7183510 MINT-7159844 MINT-7160658 I2D: score=1 STRING: ENSP00000340237
HFE	Q30201²^,³, ENSP00000417404⁴	MINT-7896162 I2D: score=5 STRING: ENSP00000417404
RANBP9	Q96S59²^,³, ENSP00000011619⁴	MINT-50059 I2D: score=3 STRING: ENSP00000011619
MYO1G	B0I1T2²^,³, ENSP00000258787⁴	STRING: ENSP00000258787 MINT-7307283 I2D: score=1
IKBKE	Q14164²^,³	MINT-48105 I2D: score=2

About this table

Gene Ontology (GO): 5/18 biological process terms (GO ID links to tree view) (see all 18): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001666	response to hypoxia	--	--
GO:0006508	proteolysis	IEA	--
GO:0006879	cellular iron ion homeostasis	TAS	--
GO:0006953	acute-phase response	--	--
GO:0007568	aging	--	--

TFRC for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

TFRC for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for TFRC

1 HMDB Compound for TFRC About this table

Compound	Synonyms	CAS #	PubMed Ids
Iron	Armco iron (see all 19)	7439-89-6	--

10/138 Novoseek chemical compound relationships for TFRC gene (see all 138) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
iron	91.8	2382	11063448 (8), 12605386 (7), 9989689 (7), 10681454 (6) (see all 99)
ferric ammonium citrate	73.7	3	15615730 (1), 10691965 (1)
apotransferrin	71.1	9	9673237 (2), 7666462 (1), 8143732 (1), 7508710 (1) (see all 7)
zinc protoporphyrin	67.9	67	15755831 (10), 9543601 (4), 11570210 (2), 12468607 (2) (see all 22)
mannose 6-phosphate	66.5	33	1310006 (2), 10821869 (2), 1655415 (2), 9004032 (1) (see all 26)
deferoxamine	65	36	10518614 (3), 1629195 (2), 1638529 (2), 19183107 (2) (see all 20)
gallium	64.6	73	8761380 (5), 17121930 (4), 2393846 (3), 8379943 (3) (see all 30)
gambogic acid	63.9	27	16103367 (6), 20071291 (3), 17673602 (3), 17017915 (1) (see all 6)
fe3+	56.6	6	10373684 (1), 20397659 (1), 7508710 (1), 19103311 (1)
ricin a	54.4	13	2230286 (3), 9361057 (1), 2144790 (1), 1351885 (1) (see all 9)

Search CenterWatch for drugs/clinical trials and news about TFRC / TFR1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for TFRC gene (2 alternative transcripts):

NM_001128148.1 NM_003234.2

Unigene Cluster for TFRC:

Transferrin receptor (p90, CD71)

Hs.529618 [show with all ESTs]

Unigene Representative Sequence: NM_003234

17 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000426789 ENST00000420415 ENST00000360110(uc003fwa.4 uc010hzy.3 uc011btr.2)

ENST00000392396(uc003fvz.4) ENST00000463047 ENST00000475593 ENST00000483983

ENST00000463356 ENST00000482479 ENST00000465288 ENST00000477148 ENST00000464368

ENST00000491658 ENST00000421258 ENST00000464011 ENST00000535031 ENST00000540528

miRNA Products:		OriGene 3'-UTR Clone (see all 2): TFRC Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TFRC
		8/82 QIAGEN miScript miRNA Assays for microRNAs that regulate TFRC (see all 82):
		hsa-miR-323-3p hsa-miR-582-3p hsa-miR-140-5p hsa-miR-200a hsa-miR-3142 hsa-miR-1243 hsa-miR-4273 hsa-miR-374b*

		SwitchGear 3'UTR luciferase reporter plasmid: TFRC 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TFRC (see all 4) OriGene shRNA RFP: TFRC OriGene siRNA: TFRC
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TFRC

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TFRC (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TFRC (see all 4) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): TFRC (NM_003234)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for TFRC
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TFRC

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TFRC Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat TFRC
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TFRC
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TFRC

Additional cDNA sequence:

AB209254.1 AK291723.1 AK294758.1 AK309923.1 BC001188.1 BX537966.1 M11507.1 X01060.1

24/31 DOTS entries (see all 31):

DT.95162018 DT.100678100 DT.320130 DT.95162011 DT.120896116 DT.95162010 DT.120896183 DT.120896169

DT.100678099 DT.120896107 DT.92002189 DT.100678101 DT.100678109 DT.120896141 DT.312070 DT.65287964

DT.100664236 DT.120896104 DT.120896178 DT.120896179 DT.40295693 DT.95314614 DT.100678108 DT.120896156

24/715 AceView cDNA sequences (see all 715):

BX494853 BU156830 AL710852 CB132323 AA693678 AU137896 BQ686221 BG571365

BM473073 BG250441 BG286655 CR595511 AI471581 AU140052 BF794028 BQ932043

BQ435153 AA216598 BX346252 BE220532 AI948778 BP354603 CB106689 AA594281

GeneLoc Exon Structure

5/11 Alternative Splicing Database (ASD) splice patterns (SP) for TFRC (see all 11) About this scheme

ExUns:	1a	·	1b	·	1c	·	1d	^	2	^	3	^	4	^	5	^	6	^	7a	·	7b	^	8a	·	8b	^	9	^	10	^	11	^	12	^	13	^	14a	·	14b	^	15a	·	15b	^	16a	·	16b	^	17a	·	17b	^
SP1:							-								-																						-				-				-				-
SP2:															-																						-				-				-				-
SP3:							-				-		-		-																						-				-				-				-
SP4:																																													-				-
SP5:							-								-

ExUns:	18a	·	18b	·	18c	^	19a	·	19b	·	19c	^	20a	·	20b	·	20c	^	21a	·	21b	·	21c
SP1:					-		-
SP2:					-		-
SP3:					-		-
SP4:					-		-
SP5:

ECgene alternative splicing isoforms for TFRC

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

TFRC expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ACCTTTACTG

About this image

TFRC expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

4 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Blood

Peripheral Blood

Erythroid Progenitor Cells

Selective marker (cell-identifying gene)

Blood

Peripheral Blood

Megakaryocyte-Erythroid Precursor Cells

Blood

Brain

Blood Brain Barrier

Endothelial Cells

Blood Brain Barrier, Endothelium

Liver

Liver Lobule

Liver

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 7 LifeMap Cells

Name

Category

PureStem™ progenitor SM22 (Embryonic Progenitor Cell)

Blast colony cells (Generation and expan...)

Enriched erythrocyte-like cells (Generation and expan...)

Erythroid-like cells (Generation of hemato...)

Mature brain microvascular endothelial cells (Derivation of blood-...)

Mesendoderm-like cells (Generation of mesend...)

Definitive endoderm-like cells (A scalable, suspensi...)

See TFRC Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TFRC

SOURCE GeneReport for Unigene cluster: Hs.529618

SABiosciences Expression via Pathway-Focused PCR Arrays including TFRC:

Housekeeping Genes PCR Array in human mouse rat

Hypoxia Signaling Pathway in human mouse rat

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for TFRC gene from 8/17 species (see all 17) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Tfrc^{1 , 5}	transferrin receptor^{1, 5}	81.77(n)¹ 77.34(a)¹		16 (23.06 cM)⁵ 22042¹ NM_011638.4¹ NP_035768.1¹ 32608920⁵
chicken (Gallus gallus)	Aves	TFRC¹	transferrin receptor (p90, CD71)	61.04(n) 53.33(a)		396191 NM_205256.1 NP_990587.1
lizard (Anolis carolinensis)	Reptilia	TFRC⁶	--	50(a)	1 ↔ 1	GL343971.1(81052-106113)
tropical clawed frog (Xenopus tropicalis)	Amphibia	Str.15779²	Transcribed sequence with weak similarity to protein more	87.79(n)		AL869143.2
zebrafish (Danio rerio)	Actinopterygii	CF347824.1²	--	87.85(n)		CF347824.1
worm (Caenorhabditis elegans)	Secernentea	R57.1⁶ C35C5.2⁶ (see all 3)	--	19(a) 19(a) (see all 3)	many ↔ many many ↔ many (see all 3)	X(301832-308296) X(11537648-11541351)
thale cress (Arabidopsis thaliana)	eudicotyledons	AT4G07670⁶ AMP1⁶ (see all 3)	glutamate carboxypeptidase II (see all 3)	28(a) 23(a) (see all 3)	many ↔ many many ↔ many (see all 3)	4(4462911-4464347) 3(20254725-20257848)
rice (Oryza sativa)	Liliopsida	-- -- (see all 4)	glutamate carboxypeptidase 2, putative, expressed (see all 4)	22(a) 22(a) (see all 4)	many ↔ many many ↔ many (see all 4)	3(32851930-32859478) 1(30921725-30926382)

ENSEMBL Gene Tree for TFRC (if available)
TreeFam Gene Tree for TFRC (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for TFRC gene

NAALADL1² NAALADL2² FOLH1² TFR2² NAALAD2²

2 SIMAP similar genes for TFRC using alignment to 5 protein entries: TFR1_HUMAN (see all proteins):

TFR2 NAALADL1

TFRC for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 3 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs189227396^1,2		--	195775696(+)	`TGTCAC/TGAAGA`	2	--	int¹		0	--	--	--	--
rs80088948^1,2		--	195775738(+)	`AAGAGG/ACCAAT`	2	--	int¹		1		WA	118
rs142807967^1,2		--	195775783(+)	`CAGTCA/TGGAAA`	2	--	int¹		0	--	--	--	--
rs180753199^1,2		--	195775815(+)	`AAGATC/TTGTGG`	2	--	int¹		0	--	--	--	--
rs41299394^1,2	C,F,	--	195775824(-)	`CCCTGG/ATAACC`	2	--	int¹		10		NS NA EA	618
rs112019504^1,2		--	195775947(+)	`CTAACA/GTAAAC`	2	--	int¹		1		CSA	1
rs12487702^1,2	C,F,H,	--	195775991(+)	`CACCCG/ATGTAG`	2	--	int¹		11		NA NS CSA WA EA	743
rs9849934^1,2	C,F,	--	195776017(+)	`AAATAT/CGCCGC`	2	--	int¹		14		NS NA WA EA	750
rs41299390^1,2	C,F,	--	195776028(-)	`CTTGCG/ACCAGA`	2	--	int¹		11		NS NA WA	626
rs149532495^1,2		--	195776095(+)	`CTGTTG/TAATTT`	2	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for TFRC (195754054 - 195809060 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 6 variations for TFRC
     3 CNVs: 0042 59128 3472
     1 Indel: 33749
     2 Inversions: 37243 0568
Human Gene Mutation Database (HGMD): TFRC

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

TFRC for disorders           About GeneDecksing

OMIM gene information: 190010    OMIM disorders: --

20/162 diseases for TFRC (see all 162):    About MalaCards

porphyria cutanea tarda adult-onset still's disease b-cell non-hodgkin lymphoma paroxysmal nocturnal hemoglobinuria

restless legs syndrome acral lentiginous melanoma beta thalassemia diffuse large b-cell lymphoma

non-hodgkin lymphoma retinol binding protein iron deficiency anemia iron overload

microcytic anemia fibrous histiocytoma amyotrophic lateral sclerosis b-cell lymphomas

malignant fibrous histiocytoma thalassemia friedreich ataxia anaplastic large cell lymphoma

6 diseases from the University of Copenhagen DISEASES database for TFRC:

Hemochromatosis Anemia Leukemia Nutrition disease

Lymphoma Thalassemia

10/95 Novoseek disease relationships for TFRC gene (see all 95) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
iron deficiency	90.3	238	11063448 (6), 12605386 (3), 10968236 (3), 17469727 (3) (see all 99)
hereditary hemochromatosis	82.9	28	11027676 (2), 10087990 (2), 1915805 (2), 1537518 (1) (see all 19)
iron deficiency anemia	79.5	52	7513628 (4), 12870058 (3), 15843240 (3), 10508130 (2) (see all 33)
iron overload	79.3	39	2179037 (3), 12198371 (3), 1537518 (2), 9550556 (2) (see all 24)
anemia	76.5	128	15104997 (4), 8055201 (3), 8730420 (3), 15843240 (3) (see all 77)
hemochromatosis	75.3	41	1858781 (4), 15894659 (2), 2179037 (1), 8178799 (1) (see all 28)
microcytic anemia	57.7	2	15018392 (1), 18617898 (1)
chronic disease	52.7	33	11190796 (2), 11045146 (2), 16271988 (2), 7513628 (2) (see all 24)
erythroleukemia	51.2	11	7742556 (2), 1871153 (1), 19716852 (1), 7913709 (1) (see all 9)
thalassemia	49.7	8	12513755 (2), 19824799 (1), 7781757 (1), 9624883 (1) (see all 6)

Genetic Association Database (GAD): TFRC
Human Genome Epidemiology (HuGE) Navigator: TFRC (24 documents)

Export disorders for TFRC gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for TFRC gene, integrated from 9 sources (see all 1527):
(articles sorted by number of sources associating them with TFRC)

Utopia: connect your pdf to the dynamic
world of online information

Functional analysis of human/chicken transferrin receptor chimeras indicates that the carboxy-terminal region is important for ligand binding. (PubMed id 8631371)^{1, 2, 9} Buchegger F.... Collawn J.F. (1996)
Mutational analysis of the transferrin receptor reveals overlapping HFE and transferrin binding sites. (PubMed id 11800564)^{1, 2, 9} West A.P. Jr.... Bjorkman P.J. (2001)
Structural model of phospholipid-reconstituted human transferrin receptor derived by electron microscopy. (PubMed id 9782058)^{1, 2, 9} Fuchs H.... Engel A. (1998)
Iron and HFE or TfR1 mutations as comorbid factors for development and progression of chronic hepatitis C. (PubMed id 12445428)^{1, 4, 9} Bonkovsky H.L....Hsieh C.C. (2002)
Hemochromatosis gene mutations and distal adenomatous colorectal polyps. (PubMed id 15668490)^{1, 4, 9} McGlynn K.A....Buetow K.H. (2005)
A conserved RGD (Arg-Gly-Asp) motif in the transferrin receptor is required for binding to transferrin. (PubMed id 10377239)^{1, 2, 9} Dubljevic V.... Goding J.W. (1999)
Transferrin receptor 1 is a cellular receptor for New World haemorrhagic fever arenaviruses. (PubMed id 17287727)^{1, 2, 9} Radoshitzky S.R....Choe H. (2007)
Investigation of genetic variants of genes of the hemochromatosis pathway and their role in breast cancer. (PubMed id 15894659)^{1, 4, 9} Abraham B.K....Brauch H. (2005)
Evidence for an association between compound heterozygosity for germ line mutations in the hemochromatosis (HFE) gene and increased risk of colorectal cancer. (PubMed id 15941956)^{1, 4, 9} Robinson J.P....Silver A.R. (2005)
Interaction between haemochromatosis and transferrin receptor genes in hepatocellular carcinoma. (PubMed id 11096344)^{1, 4, 9} Beckman L.E....Beckman L. (2000)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 7037	HGNC: 11763	AceView: TFRC	Ensembl:ENSG00000072274	euGenes: HUgn7037
ECgene: TFRC	Kegg: 7037	H-InvDB: TFRC

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for TFRC	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for TFRC	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for TFRC gene
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Patent Information for TFRC gene:
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GeneCards and IP:
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transferrin receptor (p90, CD71)

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TFRC Gene

transferrin receptor (p90, CD71)

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