TFR2
entrez
7036
canonical
uniprot
Q9UP52
canonical
ensembl
ENSG00000106327
resolver
ensp
ENSP00000223051
resolver
genesymbol
TFR2
resolver
hgnc
HGNC:11762
resolver
uniprot
A6NGM7
resolver
uniprot
O75422
resolver
uniprot
Q1HE13
resolver
uniprot
Q9HA99
resolver
uniprot
Q9NX67
resolver
uniprot_entry
TFR2_HUMAN
resolver
uniprot_sec
A6NGM7
resolver
uniprot_sec
O75422
resolver
uniprot_sec
Q1HE13
resolver
uniprot_sec
Q9HA99
resolver
uniprot_sec
Q9NX67
resolver
amino_acid_sequence
MERLWGLFQRAQQLSPRSSQTVYQRVEGPRKGHLEEEEEDGEEGAETLAHFCPMELRGPEPLGSRPRQPNLIPWAAAGRRAAPYLVLTALLIFTGAFLLGYVAFRGSCQACGDSVLVVSEDVNYEPDLDFHQGRLYWSDLQAMFLQFLGEGRLEDTIRQTSLRERVAGSAGMAALTQDIRAALSRQKLDHVWTDTHYVGLQFPDPAHPNTLHWVDEAGKVGEQLPLEDPDVYCPYSAIGNVTGELVYAHYGRPEDLQDLRARGVDPVGRLLLVRVGVISFAQKVTNAQDFGAQGVLIYPEPADFSQDPPKPSLSSQQAVYGHVHLGTGDPYTPGFPSFNQTQFPPVASSGLPSIPAQPISADIASRLLRKLKGPVAPQEWQGSLLGSPYHLGPGPRLRLVVNNHRTSTPINNIFGCIEGRSEPDHYVVIGAQRDAWGPGAAKSAVGTAILLELVRTFSSMVSNGFRPRRSLLFISWDGGDFGSVGSTEWLEGYLSVLHLKAVVYVSLDNAVLGDDKFHAKTSPLLTSLIESVLKQVDSPNHSGQTLYEQVVFTNPSWDAEVIRPLPMDSSAYSFTAFVGVPAVEFSFMEDDQAYPFLHTKEDTYENLHKVLQGRLPAVAQAVAQLAGQLLIRLSHDRLLPLDFGRYGDVVLRHIGNLNEFSGDLKARGLTLQWVYSARGDYIRAAEKLRQEIYSSEERDERLTRMYNVRIMRVEFYFLSQYVSPADSPFRHIFMGRGDHTLGALLDHLRLLRSNSSGTPGATSSTGFQESRFRRQLALLTWTLQGAANALSGDVWNIDNNF
uniprot
proteins
disease_involvement
DISEASE: 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. {ECO:0000269|PubMed:11313241, ECO:0000269|PubMed:12130528, ECO:0000269|PubMed:14633868}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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.
uniprot
proteins
mass_dalton
88755
uniprot
proteins
protein_family
M28B subfamily
uniprot
proteins
protein_family
Peptidase M28 family
uniprot
proteins
pubmed
10409623
uniprot
proteins
pubmed
10802645
uniprot
proteins
pubmed
11313241
uniprot
proteins
pubmed
12130528
uniprot
proteins
pubmed
12150153
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
14633868
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
9799793
uniprot
proteins
sequence_length
801
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane; Single-pass type II membrane protein.; SUBCELLULAR LOCATION: [Isoform Beta]: Cytoplasm {ECO:0000305}. Note=Lacks the transmembrane domain. Probably intracellular.
uniprot
proteins
transmembrane_region
TRANSMEM 84..104; /note="Helical; Signal-anchor for type II membrane protein"; /evidence="ECO:0000255
uniprot
proteins