Entrez Gene ID | 7036 |
---|---|
Official Gene Symbol | TFR2 (GeneCards) |
Full name | transferrin receptor 2 |
Location | 7q22.1 |
Other ids | Vega : OTTHUMG00000159598 MIM : 604720 HGNC : HGNC:11762 Ensembl : ENSG00000106327 |
Other names | HFE3, TFRC2 |
Summary | This gene encodes a single-pass type II membrane protein, which is a member of the transferrin receptor-like family. This protein mediates cellular uptake of transferrin-bound iron, and may be involved in iron metabolism, hepatocyte function and erythrocyte differentiation. Mutations in this gene have been associated with hereditary hemochromatosis type III. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2011] |
Found 2 variants in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
29536 | 7036 | TFR2 | 7 | 100229477 | 100229477 | Autism Spectrum Disorders | MiSeq |
29808 | 7036 | TFR2 | 7 | 100229477 | 100229477 | Autism Spectrum Disorders | MiSeq NextSeq500 |