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Q9UP52

- TFR2_HUMAN

UniProt

Q9UP52 - TFR2_HUMAN

Protein

Transferrin receptor protein 2

Gene

TFR2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 122 (01 Oct 2014)
      Sequence version 1 (01 May 2000)
      Previous versions | rss
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    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.

    GO - Molecular functioni

    1. peptidase activity Source: InterPro
    2. transferrin receptor activity Source: UniProtKB

    GO - Biological processi

    1. cellular iron ion homeostasis Source: UniProtKB
    2. iron ion transport Source: UniProtKB
    3. receptor-mediated endocytosis Source: GOC

    Keywords - Molecular functioni

    Receptor

    Protein family/group databases

    MEROPSiM28.973.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Transferrin receptor protein 2
    Short name:
    TfR2
    Gene namesi
    Name:TFR2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 7

    Organism-specific databases

    HGNCiHGNC:11762. TFR2.

    Subcellular locationi

    Isoform Beta : Cytoplasm Curated
    Note: Lacks the transmembrane domain. Probably intracellular.

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB-SubCell
    2. integral component of plasma membrane Source: UniProtKB

    Keywords - Cellular componenti

    Cell membrane, Cytoplasm, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Hemochromatosis 3 (HFE3) [MIM:604250]: A 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.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti22 – 221V → I in HFE3. 1 Publication
    VAR_042515
    Natural varianti172 – 1721M → K in HFE3. 1 Publication
    VAR_012738
    Natural varianti690 – 6901Q → P in HFE3. 1 Publication
    VAR_042517

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi604250. phenotype.
    Orphaneti225123. Hemochromatosis type 3.
    PharmGKBiPA36477.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 801801Transferrin receptor protein 2PRO_0000174136Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Disulfide bondi108 – 108InterchainSequence Analysis
    Disulfide bondi111 – 111InterchainSequence Analysis
    Glycosylationi240 – 2401N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi339 – 3391N-linked (GlcNAc...)1 Publication
    Glycosylationi540 – 5401N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi754 – 7541N-linked (GlcNAc...)1 Publication

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    MaxQBiQ9UP52.
    PaxDbiQ9UP52.
    PRIDEiQ9UP52.

    PTM databases

    PhosphoSiteiQ9UP52.

    Expressioni

    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

    ArrayExpressiQ9UP52.
    BgeeiQ9UP52.
    CleanExiHS_TFR2.
    GenevestigatoriQ9UP52.

    Organism-specific databases

    HPAiCAB016255.
    HPA011937.

    Interactioni

    Subunit structurei

    Homodimer.

    Protein-protein interaction databases

    BioGridi112894. 6 interactions.
    IntActiQ9UP52. 1 interaction.
    STRINGi9606.ENSP00000223051.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9UP52.
    SMRiQ9UP52. Positions 134-799.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 8383CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini105 – 801697ExtracellularSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei84 – 10421Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi23 – 264Endocytosis signalSequence Analysis

    Sequence similaritiesi

    Belongs to the peptidase M28 family. M28B subfamily.Curated

    Keywords - Domaini

    Signal-anchor, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG74799.
    HOGENOMiHOG000124067.
    HOVERGENiHBG023177.
    InParanoidiQ9UP52.
    OMAiLFISWDG.
    OrthoDBiEOG780RKW.
    PhylomeDBiQ9UP52.
    TreeFamiTF312981.

    Family and domain databases

    Gene3Di1.20.930.40. 1 hit.
    InterProiIPR007484. Peptidase_M28.
    IPR003137. Protease-assoc_domain.
    IPR007365. TFR-like_dimer_dom.
    [Graphical view]
    PfamiPF02225. PA. 1 hit.
    PF04389. Peptidase_M28. 1 hit.
    PF04253. TFR_dimer. 1 hit.
    [Graphical view]
    SUPFAMiSSF47672. SSF47672. 1 hit.

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    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

    MERLWGLFQR AQQLSPRSSQ TVYQRVEGPR KGHLEEEEED GEEGAETLAH    50
    FCPMELRGPE PLGSRPRQPN LIPWAAAGRR AAPYLVLTAL LIFTGAFLLG 100
    YVAFRGSCQA CGDSVLVVSE DVNYEPDLDF HQGRLYWSDL QAMFLQFLGE 150
    GRLEDTIRQT SLRERVAGSA GMAALTQDIR AALSRQKLDH VWTDTHYVGL 200
    QFPDPAHPNT LHWVDEAGKV GEQLPLEDPD VYCPYSAIGN VTGELVYAHY 250
    GRPEDLQDLR ARGVDPVGRL LLVRVGVISF AQKVTNAQDF GAQGVLIYPE 300
    PADFSQDPPK PSLSSQQAVY GHVHLGTGDP YTPGFPSFNQ TQFPPVASSG 350
    LPSIPAQPIS ADIASRLLRK LKGPVAPQEW QGSLLGSPYH LGPGPRLRLV 400
    VNNHRTSTPI NNIFGCIEGR SEPDHYVVIG AQRDAWGPGA AKSAVGTAIL 450
    LELVRTFSSM VSNGFRPRRS LLFISWDGGD FGSVGSTEWL EGYLSVLHLK 500
    AVVYVSLDNA VLGDDKFHAK TSPLLTSLIE SVLKQVDSPN HSGQTLYEQV 550
    VFTNPSWDAE VIRPLPMDSS AYSFTAFVGV PAVEFSFMED DQAYPFLHTK 600
    EDTYENLHKV LQGRLPAVAQ AVAQLAGQLL IRLSHDRLLP LDFGRYGDVV 650
    LRHIGNLNEF SGDLKARGLT LQWVYSARGD YIRAAEKLRQ EIYSSEERDE 700
    RLTRMYNVRI MRVEFYFLSQ YVSPADSPFR HIFMGRGDHT LGALLDHLRL 750
    LRSNSSGTPG ATSSTGFQES RFRRQLALLT WTLQGAANAL SGDVWNIDNN 800
    F 801
    Length:801
    Mass (Da):88,755
    Last modified:May 1, 2000 - v1
    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

    Sequence cautioni

    The sequence BAA91153.1 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti712 – 7121R → RIPLSAQV(PubMed:9799793)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti22 – 221V → I in HFE3. 1 Publication
    VAR_042515
    Natural varianti172 – 1721M → K in HFE3. 1 Publication
    VAR_012738
    Natural varianti230 – 2301D → E.
    Corresponds to variant rs41303465 [ dbSNP | Ensembl ].
    VAR_034122
    Natural varianti238 – 2381I → M.
    Corresponds to variant rs34242818 [ dbSNP | Ensembl ].
    VAR_034123
    Natural varianti455 – 4551R → Q Hereditary hemochromatosis modifier. 1 Publication
    Corresponds to variant rs41303501 [ dbSNP | Ensembl ].
    VAR_042516
    Natural varianti690 – 6901Q → P in HFE3. 1 Publication
    VAR_042517
    Natural varianti752 – 7521R → H.
    Corresponds to variant rs41295942 [ dbSNP | Ensembl ].
    VAR_034124

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 171171Missing in isoform Beta. 1 PublicationVSP_005354Add
    BLAST
    Alternative sequencei343 – 36927Missing in isoform Gamma. CuratedVSP_005355Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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_005250553.2. [Q9UP52-1]
    XP_006716166.1. XM_006716103.1. [Q9UP52-1]
    UniGeneiHs.544932.

    Genome annotation databases

    EnsembliENST00000223051; ENSP00000223051; ENSG00000106327. [Q9UP52-1]
    ENST00000462107; ENSP00000420525; ENSG00000106327. [Q9UP52-1]
    GeneIDi7036.
    KEGGihsa:7036.
    UCSCiuc003uvu.1. human. [Q9UP52-1]
    uc010lhc.1. human. [Q9UP52-2]

    Polymorphism databases

    DMDMi20140912.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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.
    CCDSi CCDS34707.1. [Q9UP52-1 ]
    RefSeqi NP_001193784.1. NM_001206855.1. [Q9UP52-2 ]
    NP_003218.2. NM_003227.3. [Q9UP52-1 ]
    XP_005250610.1. XM_005250553.2. [Q9UP52-1 ]
    XP_006716166.1. XM_006716103.1. [Q9UP52-1 ]
    UniGenei Hs.544932.

    3D structure databases

    ProteinModelPortali Q9UP52.
    SMRi Q9UP52. Positions 134-799.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 112894. 6 interactions.
    IntActi Q9UP52. 1 interaction.
    STRINGi 9606.ENSP00000223051.

    Protein family/group databases

    MEROPSi M28.973.

    PTM databases

    PhosphoSitei Q9UP52.

    Polymorphism databases

    DMDMi 20140912.

    Proteomic databases

    MaxQBi Q9UP52.
    PaxDbi Q9UP52.
    PRIDEi Q9UP52.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000223051 ; ENSP00000223051 ; ENSG00000106327 . [Q9UP52-1 ]
    ENST00000462107 ; ENSP00000420525 ; ENSG00000106327 . [Q9UP52-1 ]
    GeneIDi 7036.
    KEGGi hsa:7036.
    UCSCi uc003uvu.1. human. [Q9UP52-1 ]
    uc010lhc.1. human. [Q9UP52-2 ]

    Organism-specific databases

    CTDi 7036.
    GeneCardsi GC07M100218.
    GeneReviewsi TFR2.
    HGNCi HGNC:11762. TFR2.
    HPAi CAB016255.
    HPA011937.
    MIMi 604250. phenotype.
    604720. gene.
    neXtProti NX_Q9UP52.
    Orphaneti 225123. Hemochromatosis type 3.
    PharmGKBi PA36477.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG74799.
    HOGENOMi HOG000124067.
    HOVERGENi HBG023177.
    InParanoidi Q9UP52.
    OMAi LFISWDG.
    OrthoDBi EOG780RKW.
    PhylomeDBi Q9UP52.
    TreeFami TF312981.

    Miscellaneous databases

    GeneWikii TFR2.
    GenomeRNAii 7036.
    NextBioi 27489.
    PROi Q9UP52.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9UP52.
    Bgeei Q9UP52.
    CleanExi HS_TFR2.
    Genevestigatori Q9UP52.

    Family and domain databases

    Gene3Di 1.20.930.40. 1 hit.
    InterProi IPR007484. Peptidase_M28.
    IPR003137. Protease-assoc_domain.
    IPR007365. TFR-like_dimer_dom.
    [Graphical view ]
    Pfami PF02225. PA. 1 hit.
    PF04389. Peptidase_M28. 1 hit.
    PF04253. TFR_dimer. 1 hit.
    [Graphical view ]
    SUPFAMi SSF47672. SSF47672. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Molecular cloning of transferrin receptor 2: a new member of the transferrin receptor-like family."
      Kawabata H., Yang R., Hirama T., Vuong P.T., Kawano S., Gombart A.F., Koeffler H.P.
      J. Biol. Chem. 274:20826-20832(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS ALPHA AND BETA).
      Tissue: Erythroleukemia and Myeloid leukemia cell.
    2. "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."
      Gloeckner G., Scherer S., Schattevoy R., Boright A.P., Weber J., Tsui L.-C., Rosenthal A.
      Genome Res. 8:1060-1073(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM GAMMA).
    3. NHLBI resequencing and genotyping service (RS&G)
      Submitted (APR-2006) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    4. "The DNA sequence of human chromosome 7."
      Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L.
      , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
      Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    6. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-158 AND 370-801.
      Tissue: Carcinoma and Embryo.
    7. "The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22."
      Camaschella C., Roetto A., Cali A., De Gobbi M., Garozzo G., Carella M., Majorano N., Totaro A., Gasparini P.
      Nat. Genet. 25:14-15(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: DISEASE.
    8. "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
      Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.
      J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-339 AND ASN-754.
      Tissue: Liver.
    9. Cited for: VARIANT HFE3 LYS-172.
    10. "Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: identification of a novel TfR2 mutation."
      Mattman A., Huntsman D., Lockitch G., Langlois S., Buskard N., Ralston D., Butterfield Y., Rodrigues P., Jones S., Porto G., Marra M., De Sousa M., Vatcher G.
      Blood 100:1075-1077(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HFE3 PRO-690.
    11. "Mutation analysis of transferrin-receptor 2 in patients with atypical hemochromatosis."
      Hofmann W.-K., Tong X.-J., Ajioka R.S., Kushner J.P., Koeffler H.P.
      Blood 100:1099-1100(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT GLN-455.
    12. "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."
      Biasiotto G., Belloli S., Ruggeri G., Zanella I., Gerardi G., Corrado M., Gobbi E., Albertini A., Arosio P.
      Clin. Chem. 49:1981-1988(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HFE3 ILE-22.

    Entry informationi

    Entry nameiTFR2_HUMAN
    AccessioniPrimary (citable) accession number: Q9UP52
    Secondary accession number(s): A6NGM7
    , O75422, Q1HE13, Q9HA99, Q9NX67
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 11, 2002
    Last sequence update: May 1, 2000
    Last modified: October 1, 2014
    This is version 122 of the entry and version 1 of the sequence. [Complete history]
    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.

    Miscellaneousi

    Miscellaneous

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

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 7
      Human chromosome 7: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. Peptidase families
      Classification of peptidase families and list of entries
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3