TF Chromosome 3
Transferrin
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What This Gene Does
This gene encodes a glycoprotein with an approximate molecular weight of 76.5 kDa. It is thought to have been created as a result of an ancient gene duplication event that led to generation of homologous C and N-terminal domains each of which binds one ion of ferric iron. The function of this protein is to transport iron from the intestine, reticuloendothelial system, and liver parenchymal cells to all proliferating cells in the body. This protein may also have a physiologic role as granulocyte/pollen-binding protein (GPBP) involved in the removal of certain organic matter and allergens from serum. [provided by RefSeq, Sep 2009]
Gene Info
Gene Group
Transferrins
Locus Type
gene with protein product
Location
3q22.1
Ensembl
ENSG00000091513
Associated Conditions (4)
Atransferrinemia
TF-related disorder
Transferrin variant D1
Transferrin variant Bv
Key Variants
RS112157819
Conflicting classifications of pathogenicity
Atransferrinemia, Atransferrinemia
Health Risk
RS140381335
Conflicting classifications of pathogenicity
Atransferrinemia, Atransferrinemia
Health Risk
RS1406126776
Conflicting classifications of pathogenicity
Atransferrinemia, Atransferrinemia
Health Risk
RS146477698
Conflicting classifications of pathogenicity
Atransferrinemia, TF-related disorder, Atransferrinemia
Health Risk
RS150854910
Conflicting classifications of pathogenicity
Atransferrinemia, Atransferrinemia
Health Risk
RS201033555
Conflicting classifications of pathogenicity
Atransferrinemia, Atransferrinemia
Health Risk
RS368521553
Conflicting classifications of pathogenicity
Atransferrinemia, Atransferrinemia
Health Risk
RS376851470
Conflicting classifications of pathogenicity
Atransferrinemia, Atransferrinemia
Health Risk
RS575999145
Conflicting classifications of pathogenicity
Atransferrinemia, TF-related disorder, Atransferrinemia
Health Risk
RS756125441
Conflicting classifications of pathogenicity
Atransferrinemia, Atransferrinemia
Health Risk
RS757985238
Conflicting classifications of pathogenicity
Atransferrinemia, Atransferrinemia
Health Risk
RS762383370
Conflicting classifications of pathogenicity
Atransferrinemia, Atransferrinemia
Health Risk
All Variants (20)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS112157819 | Health Risk | Conflicting classifications of pathogenicity | Atransferrinemia, Atransferrinemia |
| RS140381335 | Health Risk | Conflicting classifications of pathogenicity | Atransferrinemia, Atransferrinemia |
| RS1406126776 | Health Risk | Conflicting classifications of pathogenicity | Atransferrinemia, Atransferrinemia |
| RS146477698 | Health Risk | Conflicting classifications of pathogenicity | Atransferrinemia, TF-related disorder, Atransferrinemia |
| RS150854910 | Health Risk | Conflicting classifications of pathogenicity | Atransferrinemia, Atransferrinemia |
| RS201033555 | Health Risk | Conflicting classifications of pathogenicity | Atransferrinemia, Atransferrinemia |
| RS368521553 | Health Risk | Conflicting classifications of pathogenicity | Atransferrinemia, Atransferrinemia |
| RS376851470 | Health Risk | Conflicting classifications of pathogenicity | Atransferrinemia, Atransferrinemia |
| RS575999145 | Health Risk | Conflicting classifications of pathogenicity | Atransferrinemia, TF-related disorder, Atransferrinemia |
| RS756125441 | Health Risk | Conflicting classifications of pathogenicity | Atransferrinemia, Atransferrinemia |
| RS757985238 | Health Risk | Conflicting classifications of pathogenicity | Atransferrinemia, Atransferrinemia |
| RS762383370 | Health Risk | Conflicting classifications of pathogenicity | Atransferrinemia, Atransferrinemia |
| RS769998552 | Health Risk | Conflicting classifications of pathogenicity | Atransferrinemia, Atransferrinemia |
| RS2107925842 | Health Risk | Likely pathogenic | Atransferrinemia, Atransferrinemia |
| RS773139494 | Health Risk | Likely pathogenic | Atransferrinemia, Atransferrinemia |
| RS121918676 | Health Risk | Pathogenic | Transferrin variant D1, Transferrin variant D1 |
| RS121918678 | Health Risk | Pathogenic | Transferrin variant Bv, Transferrin variant Bv |
| RS121918679 | Health Risk | Pathogenic | Atransferrinemia, Atransferrinemia |
| RS121918681 | Health Risk | Pathogenic | Atransferrinemia, Atransferrinemia |
| RS2530589860 | Health Risk | Pathogenic | Atransferrinemia, Atransferrinemia |