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Gene, Transcriptome, Protein, Pathway or Disease. 

Protein basic information

LiverAtlas Protein ID

HuLPr46947

Uniprot ID

TFR2_HUMAN

Uniprot Acc

Q9UP52;A6NGM7;O75422;Q1HE13;Q9HA99;Q9NX67;

Protein name

Transferrin receptor protein 2

Comment

FUNCTION:Mediates cellular uptake of transferrin-bound iron in a non-iron dependent manner. May be involved in iron metabolism, hepatocyte function and erythrocyte differentiation.||SUBUNIT:Homodimer.||SUBCELLULAR LOCATION:Cell membrane; Single-pass type II membrane protein.||SUBCELLULAR LOCATION:Isoform Beta:Cytoplasm (Probable). Note=Lacks the transmembrane domain. Probably intracellular.||ALTERNATIVE PRODUCTS:Event=Alternative splicing; Named isoforms=3; Name=Alpha; IsoId=Q9UP52-1; Sequence=Displayed; Name=Beta; IsoId=Q9UP52-2; Sequence=VSP 005354; Name=Gamma; IsoId=Q9UP52-3; Sequence=VSP 005355;||TISSUE SPECIFICITY: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.||DISEASE:Defects in TFR2 are a cause of hemochromatosis type 3 (HFE3) [MIM:604250]. HFE3 is a disorder of iron hemostasis resulting in iron overload and ha

Subcellular localization

Cell membrane;Single-pass type II membrane protein.

Gene name

transferrin receptor 2

Related liver disease name

Hepatocellular carcinoma

Hemachromatosis

Protein sequence

MERLWGLFQRAQQLSPRSSQTVYQRVEGPRKGHLEEEEED GEEGAETLAHFCPMELRGPEPLGSRPRQPNLIPWAAAGR RAAPYLVLTALLIFTGAFLLGYVAFRGSCQACGDSVLVV SEDVNYEPDLDFHQGRLYWSDLQAMFLQFLGEGRLEDTI RQTSLRERVAGSAGMAALTQDIRAALSRQKLDHVWTDTH YVGLQFPDPAHPNTLHWVDEAGKVGEQLPLEDPDVYCPY SAIGNVTGELVYAHYGRPEDLQDLRARGVDPVGRLLLVR VGVISFAQKVTNAQDFGAQGVLIYPEPADFSQDPPKPSL SSQQAVYGHVHLGTGDPYTPGFPSFNQTQFPPVASSGLP SIPAQPISADIASRLLRKLKGPVAPQEWQGSLLGSPYHL GPGPRLRLVVNNHRTSTPINNIFGCIEGRSEPDHYVVIG AQRDAWGPGAAKSAVGTAILLELVRTFSSMVSNGFRPRR SLLFISWDGGDFGSVGSTEWLEGYLSVLHLKAVVYVSLD NAVLGDDKFHAKTSPLLTSLIESVLKQVDSPNHSGQTLY EQVVFTNPSWDAEVIRPLPMDSSAYSFTAFVGVPAVEFS FMEDDQAYPFLHTKEDTYENLHKVLQGRLPAVAQAVAQL AGQLLIRLSHDRLLPLDFGRYGDVVLRHIGNLNEFSGDL KARGLTLQWVYSARGDYIRAAEKLRQEIYSSEERDERLT RMYNVRIMRVEFYFLSQYVSPADSPFRHIFMGRGDHTLG ALLDHLRLLRSNSSGTPGATSSTGFQESRFRRQLALLTW TLQGAANALSGDVWNIDNNF

Database cross reference

RefSeq Protein accession:NP_003218
RefSeq Protein gi:33589848

Liver relevance

Liver sepcificity

Yes/No

Yes

Evidence

Translational level from literatures

Quality score

HCC significant Proteins

Yes/No

Yes

Quality score

Ontology annotation

GO-C

GO:0005737;C:cytoplasm;IEA:UniProtKB-SubCell. GO:0005887;C:integral to plasma membrane;NAS:UniProtKB.

GO-F

GO:0008233;F:peptidase activity;IEA:InterPro. GO:0004998;F:transferrin receptor activity;NAS:UniProtKB.

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