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STEAP3

Chr 2q14.2

STEAP3 metalloreductase

Aliases:
TSAP6, dudlin-2, STMP3
MANE:
ENST00000393110.7

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Iron metabolism disorders - NOT common HFE mutations

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Rare anaemia

Disease associations (Open Targets)

  • severe congenital hypochromic anemia with ringed sideroblasts

    0.50
  • ovarian neoplasm

    0.29
  • autoimmune thyroid disease

    0.29
  • trauma complication

    0.28
  • ocular hypotension

    0.28
  • bone remodeling disease

    0.22
  • hypochromic anemia

    0.19
  • primary ciliary dyskinesia

    0.15
  • Abnormal nasolacrimal system morphology

    0.13
  • central nervous system cancer

    0.11

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

Protein function (UniProt)

Metalloreductase STEAP3

Integral membrane protein that functions as a NADPH-dependent ferric-chelate reductase, using NADPH from one side of the membrane to reduce a Fe(3+) chelate that is bound on the other side of the membrane (PubMed:26205815). Mediates sequential transmembrane electron transfer from NADPH to FAD and onto heme, and finally to the Fe(3+) chelate (By similarity). Can also reduce Cu(2+) to Cu(1+) (By similarity). Mediates efficient transferrin-dependent iron uptake in erythroid cells (By similarity). May play a role downstream of p53/TP53 to interface apoptosis and cell cycle progression (By similarity). Indirectly involved in exosome secretion by facilitating the secretion of proteins such as TCTP (PubMed:15319436, PubMed:16651434)

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.