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GenoLensGenoLens

TF

Chr 3q22.1

transferrin

Aliases:
PRO1557, PRO2086
MANE:
ENST00000402696.9

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Cytopenias and congenital anaemias

    BIALLELIC, autosomal or pseudoautosomal
  • Iron metabolism disorders - NOT common HFE mutations

    BIALLELIC, autosomal or pseudoautosomal
  • Rare anaemia

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • atransferrinemia

    0.76
  • Congenital atransferrinemia

    0.66
  • hemochromatosis type 1

    0.47
  • alcohol drinking

    0.46
  • neurodegenerative disease

    0.40
  • urolithiasis

    0.29
  • preeclampsia

    0.24
  • prostate cancer

    0.13
  • Familial prostate cancer

    0.13
  • Iron deficiency anemia

    0.13

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Serotransferrin

Transferrins are iron binding transport proteins which can bind two Fe(3+) ions in association with the binding of an anion, usually bicarbonate. It is responsible for the transport of iron from sites of absorption and heme degradation to those of storage and utilization. Serum transferrin may also have a further role in stimulating cell proliferation

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.