Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Transferrin receptor protein 2

Gene

TFR2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Mediates cellular uptake of transferrin-bound iron in a non-iron dependent manner. May be involved in iron metabolism, hepatocyte function and erythrocyte differentiation.

Miscellaneous

The variant Lys-172 found in hereditary hemochromatosis type III affects the putative initiation codon of the beta isoform thus preventing its translation.

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • co-receptor binding Source: BHF-UCL
  • transferrin receptor activity Source: BHF-UCL
  • transferrin transmembrane transporter activity Source: InterPro

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionReceptor

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-917977 Transferrin endocytosis and recycling

Protein family/group databases

MEROPS protease database

More...
MEROPSi
M28.973

Transport Classification Database

More...
TCDBi
9.B.229.1.2 the transferrin receptor, cd71, (tfr) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Transferrin receptor protein 2
Short name:
TfR2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:TFR2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 7

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000106327.12

Human Gene Nomenclature Database

More...
HGNCi
HGNC:11762 TFR2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
604720 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9UP52

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 83CytoplasmicSequence analysisAdd BLAST83
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei84 – 104Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST21
Topological domaini105 – 801ExtracellularSequence analysisAdd BLAST697

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Hemochromatosis 3 (HFE3)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder of iron metabolism characterized by iron overload. Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading.
See also OMIM:604250
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_04251522V → I in HFE3. 1 PublicationCorresponds to variant dbSNP:rs80338876EnsemblClinVar.1
Natural variantiVAR_012738172M → K in HFE3. 1 PublicationCorresponds to variant dbSNP:rs80338879EnsemblClinVar.1
Natural variantiVAR_042517690Q → P in HFE3. 1 PublicationCorresponds to variant dbSNP:rs80338889EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
7036

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
TFR2

MalaCards human disease database

More...
MalaCardsi
TFR2
MIMi604250 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000106327

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
225123 Hemochromatosis type 3

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA36477

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL3988361

Drug and drug target database

More...
DrugBanki
DB09412 Gallium citrate Ga-67
DB05260 Gallium nitrate

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
TFR2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
20140912

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001741361 – 801Transferrin receptor protein 2Add BLAST801

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi108InterchainSequence analysis
Disulfide bondi111InterchainSequence analysis
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi240N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi339N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi540N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi754N-linked (GlcNAc...) asparagine1 Publication1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9UP52

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9UP52

PeptideAtlas

More...
PeptideAtlasi
Q9UP52

PRoteomics IDEntifications database

More...
PRIDEi
Q9UP52

ProteomicsDB human proteome resource

More...
ProteomicsDBi
85352
85353 [Q9UP52-2]
85354 [Q9UP52-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9UP52

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9UP52

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Predominantly expressed in liver. While the alpha form is also expressed in spleen, lung, muscle, prostate and peripheral blood mononuclear cells, the beta form is expressed in all tissues tested, albeit weakly.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000106327 Expressed in 178 organ(s), highest expression level in liver

CleanEx database of gene expression profiles

More...
CleanExi
HS_TFR2

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9UP52 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9UP52 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB016255
HPA011937

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer.

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
112894, 11 interactors

Protein interaction database and analysis system

More...
IntActi
Q9UP52, 3 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000223051

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q9UP52

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q9UP52

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi23 – 26Endocytosis signalSequence analysis4

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the peptidase M28 family. M28B subfamily.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG2195 Eukaryota
COG2234 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000153978

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000124067

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG023177

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9UP52

Identification of Orthologs from Complete Genome Data

More...
OMAi
CPYSATG

Database of Orthologous Groups

More...
OrthoDBi
804230at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9UP52

TreeFam database of animal gene trees

More...
TreeFami
TF312981

Family and domain databases

Conserved Domains Database

More...
CDDi
cd02128 PA_TfR, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.20.930.40, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR003137 PA_domain
IPR007484 Peptidase_M28
IPR039373 Peptidase_M28B
IPR036757 TFR-like_dimer_dom_sf
IPR037324 TfR1/2_PA

The PANTHER Classification System

More...
PANTHERi
PTHR10404 PTHR10404, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF02225 PA, 1 hit
PF04389 Peptidase_M28, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF47672 SSF47672, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform Alpha (identifier: Q9UP52-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MERLWGLFQR AQQLSPRSSQ TVYQRVEGPR KGHLEEEEED GEEGAETLAH
60 70 80 90 100
FCPMELRGPE PLGSRPRQPN LIPWAAAGRR AAPYLVLTAL LIFTGAFLLG
110 120 130 140 150
YVAFRGSCQA CGDSVLVVSE DVNYEPDLDF HQGRLYWSDL QAMFLQFLGE
160 170 180 190 200
GRLEDTIRQT SLRERVAGSA GMAALTQDIR AALSRQKLDH VWTDTHYVGL
210 220 230 240 250
QFPDPAHPNT LHWVDEAGKV GEQLPLEDPD VYCPYSAIGN VTGELVYAHY
260 270 280 290 300
GRPEDLQDLR ARGVDPVGRL LLVRVGVISF AQKVTNAQDF GAQGVLIYPE
310 320 330 340 350
PADFSQDPPK PSLSSQQAVY GHVHLGTGDP YTPGFPSFNQ TQFPPVASSG
360 370 380 390 400
LPSIPAQPIS ADIASRLLRK LKGPVAPQEW QGSLLGSPYH LGPGPRLRLV
410 420 430 440 450
VNNHRTSTPI NNIFGCIEGR SEPDHYVVIG AQRDAWGPGA AKSAVGTAIL
460 470 480 490 500
LELVRTFSSM VSNGFRPRRS LLFISWDGGD FGSVGSTEWL EGYLSVLHLK
510 520 530 540 550
AVVYVSLDNA VLGDDKFHAK TSPLLTSLIE SVLKQVDSPN HSGQTLYEQV
560 570 580 590 600
VFTNPSWDAE VIRPLPMDSS AYSFTAFVGV PAVEFSFMED DQAYPFLHTK
610 620 630 640 650
EDTYENLHKV LQGRLPAVAQ AVAQLAGQLL IRLSHDRLLP LDFGRYGDVV
660 670 680 690 700
LRHIGNLNEF SGDLKARGLT LQWVYSARGD YIRAAEKLRQ EIYSSEERDE
710 720 730 740 750
RLTRMYNVRI MRVEFYFLSQ YVSPADSPFR HIFMGRGDHT LGALLDHLRL
760 770 780 790 800
LRSNSSGTPG ATSSTGFQES RFRRQLALLT WTLQGAANAL SGDVWNIDNN

F
Length:801
Mass (Da):88,755
Last modified:May 1, 2000 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iD3D3082BA835413A
GO
Isoform Beta (identifier: Q9UP52-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-171: Missing.

Show »
Length:630
Mass (Da):69,618
Checksum:i267F164C1D1DEEAE
GO
Isoform Gamma (identifier: Q9UP52-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     343-369: Missing.

Show »
Length:774
Mass (Da):86,012
Checksum:i09A2662EFC77C9A0
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E7ET36E7ET36_HUMAN
Transferrin receptor protein 2
TFR2
355Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C544H7C544_HUMAN
Transferrin receptor protein 2
TFR2
169Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAA91153 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti712R → RIPLSAQV (PubMed:9799793).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04251522V → I in HFE3. 1 PublicationCorresponds to variant dbSNP:rs80338876EnsemblClinVar.1
Natural variantiVAR_012738172M → K in HFE3. 1 PublicationCorresponds to variant dbSNP:rs80338879EnsemblClinVar.1
Natural variantiVAR_034122230D → E. Corresponds to variant dbSNP:rs41303465Ensembl.1
Natural variantiVAR_034123238I → M. Corresponds to variant dbSNP:rs34242818EnsemblClinVar.1
Natural variantiVAR_042516455R → Q Hereditary hemochromatosis modifier. 1 PublicationCorresponds to variant dbSNP:rs41303501EnsemblClinVar.1
Natural variantiVAR_042517690Q → P in HFE3. 1 PublicationCorresponds to variant dbSNP:rs80338889EnsemblClinVar.1
Natural variantiVAR_034124752R → H. Corresponds to variant dbSNP:rs41295942EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0053541 – 171Missing in isoform Beta. 1 PublicationAdd BLAST171
Alternative sequenceiVSP_005355343 – 369Missing in isoform Gamma. CuratedAdd BLAST27

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF067864 mRNA Translation: AAD45561.1
AF053356 Genomic DNA Translation: AAC78796.1
DQ496110 Genomic DNA Translation: ABF47099.1
AC099394 Genomic DNA No translation available.
BC142630 mRNA Translation: AAI42631.1
AK022002 mRNA Translation: BAB13951.1
AK000421 mRNA Translation: BAA91153.1 Different initiation.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS34707.1 [Q9UP52-1]

NCBI Reference Sequences

More...
RefSeqi
NP_001193784.1, NM_001206855.1 [Q9UP52-2]
NP_003218.2, NM_003227.3 [Q9UP52-1]
XP_005250610.1, XM_005250553.4 [Q9UP52-1]
XP_016868062.1, XM_017012573.1 [Q9UP52-1]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.544932

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000223051; ENSP00000223051; ENSG00000106327 [Q9UP52-1]
ENST00000462107; ENSP00000420525; ENSG00000106327 [Q9UP52-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
7036

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:7036

UCSC genome browser

More...
UCSCi
uc003uvv.2 human [Q9UP52-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF067864 mRNA Translation: AAD45561.1
AF053356 Genomic DNA Translation: AAC78796.1
DQ496110 Genomic DNA Translation: ABF47099.1
AC099394 Genomic DNA No translation available.
BC142630 mRNA Translation: AAI42631.1
AK022002 mRNA Translation: BAB13951.1
AK000421 mRNA Translation: BAA91153.1 Different initiation.
CCDSiCCDS34707.1 [Q9UP52-1]
RefSeqiNP_001193784.1, NM_001206855.1 [Q9UP52-2]
NP_003218.2, NM_003227.3 [Q9UP52-1]
XP_005250610.1, XM_005250553.4 [Q9UP52-1]
XP_016868062.1, XM_017012573.1 [Q9UP52-1]
UniGeneiHs.544932

3D structure databases

ProteinModelPortaliQ9UP52
SMRiQ9UP52
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112894, 11 interactors
IntActiQ9UP52, 3 interactors
STRINGi9606.ENSP00000223051

Chemistry databases

ChEMBLiCHEMBL3988361
DrugBankiDB09412 Gallium citrate Ga-67
DB05260 Gallium nitrate

Protein family/group databases

MEROPSiM28.973
TCDBi9.B.229.1.2 the transferrin receptor, cd71, (tfr) family

PTM databases

iPTMnetiQ9UP52
PhosphoSitePlusiQ9UP52

Polymorphism and mutation databases

BioMutaiTFR2
DMDMi20140912

Proteomic databases

jPOSTiQ9UP52
PaxDbiQ9UP52
PeptideAtlasiQ9UP52
PRIDEiQ9UP52
ProteomicsDBi85352
85353 [Q9UP52-2]
85354 [Q9UP52-3]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000223051; ENSP00000223051; ENSG00000106327 [Q9UP52-1]
ENST00000462107; ENSP00000420525; ENSG00000106327 [Q9UP52-1]
GeneIDi7036
KEGGihsa:7036
UCSCiuc003uvv.2 human [Q9UP52-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
7036
DisGeNETi7036
EuPathDBiHostDB:ENSG00000106327.12

GeneCards: human genes, protein and diseases

More...
GeneCardsi
TFR2
GeneReviewsiTFR2
HGNCiHGNC:11762 TFR2
HPAiCAB016255
HPA011937
MalaCardsiTFR2
MIMi604250 phenotype
604720 gene
neXtProtiNX_Q9UP52
OpenTargetsiENSG00000106327
Orphaneti225123 Hemochromatosis type 3
PharmGKBiPA36477

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2195 Eukaryota
COG2234 LUCA
GeneTreeiENSGT00940000153978
HOGENOMiHOG000124067
HOVERGENiHBG023177
InParanoidiQ9UP52
OMAiCPYSATG
OrthoDBi804230at2759
PhylomeDBiQ9UP52
TreeFamiTF312981

Enzyme and pathway databases

ReactomeiR-HSA-917977 Transferrin endocytosis and recycling

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
TFR2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
7036

Protein Ontology

More...
PROi
PR:Q9UP52

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000106327 Expressed in 178 organ(s), highest expression level in liver
CleanExiHS_TFR2
ExpressionAtlasiQ9UP52 baseline and differential
GenevisibleiQ9UP52 HS

Family and domain databases

CDDicd02128 PA_TfR, 1 hit
Gene3Di1.20.930.40, 1 hit
InterProiView protein in InterPro
IPR003137 PA_domain
IPR007484 Peptidase_M28
IPR039373 Peptidase_M28B
IPR036757 TFR-like_dimer_dom_sf
IPR037324 TfR1/2_PA
PANTHERiPTHR10404 PTHR10404, 1 hit
PfamiView protein in Pfam
PF02225 PA, 1 hit
PF04389 Peptidase_M28, 1 hit
SUPFAMiSSF47672 SSF47672, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiTFR2_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9UP52
Secondary accession number(s): A6NGM7
, O75422, Q1HE13, Q9HA99, Q9NX67
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 11, 2002
Last sequence update: May 1, 2000
Last modified: January 16, 2019
This is version 157 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Peptidase families
    Classification of peptidase families and list of entries
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again