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Q9UP52

- TFR2_HUMAN

UniProt

Q9UP52 - TFR2_HUMAN

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Protein
Transferrin receptor protein 2
Gene
TFR2
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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
Complete GO annotation...

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 Inferred
Note: Lacks the transmembrane domain. Probably intracellular.

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 8383Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei84 – 10421Helical; Signal-anchor for type II membrane protein; Reviewed prediction
Add
BLAST
Topological domaini105 – 801697Extracellular Reviewed prediction
Add
BLAST

GO - Cellular componenti

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

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.4 Publications
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 2
PRO_0000174136Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi108 – 108Interchain Reviewed prediction
Disulfide bondi111 – 111Interchain Reviewed prediction
Glycosylationi240 – 2401N-linked (GlcNAc...) Reviewed prediction
Glycosylationi339 – 3391N-linked (GlcNAc...)1 Publication
Glycosylationi540 – 5401N-linked (GlcNAc...) Reviewed prediction
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.

Family & Domainsi

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi23 – 264Endocytosis signal Reviewed prediction

Sequence similaritiesi

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.

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.
VSP_005354Add
BLAST
Alternative sequencei343 – 36927Missing in isoform Gamma.
VSP_005355Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti712 – 7121R → RIPLSAQV1 Publication

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]
ENST00000544242; ENSP00000443656; ENSG00000106327.
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 ]
ENST00000544242 ; ENSP00000443656 ; ENSG00000106327 .
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

« Hide 'large scale' publications
  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: July 9, 2014
This is version 121 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

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