TF transferrin
Gene ID: 7018, updated on 7-Apr-2024Gene type: protein coding
Also known as: TFQTL1; PRO1557; PRO2086; HEL-S-71p
- See all available tests in GTR for this gene
- Go to complete Gene record for TF
- Go to Variation Viewer for TF variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Association of HFE and TMPRSS6 genetic variants with iron and erythrocyte parameters is only in part dependent on serum hepcidin concentrations. GeneReviews: Not available | |
| Atransferrinemia | See labs |
| Genome-wide admixture and association study of serum iron, ferritin, transferrin saturation and total iron binding capacity in African Americans. GeneReviews: Not available | |
| Genome-wide association study identifies genetic loci associated with iron deficiency. GeneReviews: Not available | |
| Genome-wide association study identifies TF as a significant modifier gene of iron metabolism in HFE hemochromatosis. GeneReviews: Not available | |
| Genome-wide association study identifies two loci strongly affecting transferrin glycosylation. GeneReviews: Not available | |
| Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels. GeneReviews: Not available | |
| Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis. GeneReviews: Not available | |
| Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels. GeneReviews: Not available |
Genomic context
- Location:
- 3q22.1
- Sequence:
- Chromosome: 3; NC_000003.12 (133661998..133796641)
- Total number of exons:
- 24
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TF variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- TF database
- Variation ViewerRelated Variants
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